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
ARCN1	372	broad.mit.edu	37	11	118451977	118452014	+	Frame_Shift_Del	DEL	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	rs142869705	by1000genomes	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENST00000264028.4	+	2	115_152	c.20_57delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	c.(19-57)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs	p.AVCTKAGKAIVSR7fs	ARCN1_ENST00000359415.4_Frame_Shift_Del_p.AVCTKAGKAIVSR48fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	p.A15T(1)		13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)			TTGGCAGCAGCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGACAGTTTGTGG	0.420000																								1	Substitution - Missense(1)						SO:0001589	frameshift_variant			ENST00000264028.4	1	0	hg19	CCDS8400.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	0	54	617	0	298	0	9.999996e-01	0	242	0	298	2			0	0	0	0		1	0.999990	104	664	5	302	24								-2.665581	1	1	0	0		1	1	2	3	2.285822	1	0.360000	1.990000	0.437016	0.520000	0.390000	1.000000	0.500000	0.599614	0.520000	0	0.450000	1.000000
E4F1	1877	broad.mit.edu	37	16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	rs137969975		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1			1					CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693000																								0							SO:0001651	inframe_deletion			ENST00000301727.4	1	1	hg19	CCDS32370.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	1	0	0	16	156	0	110	0	8.440212e-01	0	35	0	110	2	0	0	0	1	0	0	2	1	0.951935	24	165	2	119	10								-19.998440	1	1	0	0		1	1	2	3	2.029570	0	0.360000	1.990000	0.365709	0.530000	0.310000	1.000000	0.510000	0.559520	0.530000	0	0.410000	0.690000
RASSF2	9770	broad.mit.edu	37	20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2			34					GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539000													Melanoma(158;1891 3343 50738)											0							SO:0001589	frameshift_variant			ENST00000379400.3	1	1	hg19	CCDS13083.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	1	0	0	17	228	0	131	0	8.708160e-01	0	51	0	131	2			0	0	0	0		1	0.999985	26	238	0	129	2								-19.970650	1	1	0	0		1	1	2	3	2.016887	0	0.360000	1.990000	0.362296	0.390000	0.230000	0.620000	0.390000	0.409252	0.390000	0	0.300000	0.500000
CACNA2D3	55799	broad.mit.edu	37	3	55021718	55021719	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:55021718_55021719delCT	ENST00000474759.1	+	31	2676_2677	c.2628_2629delCT	c.(2626-2631)gactttfs	p.F878fs	CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.F784fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.F878fs|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)	AGACTGGAGACTTTTTTGGTGA	0.436000																								0							SO:0001589	frameshift_variant			ENST00000474759.1	1	1	hg19	CCDS54598.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	0	23	179	0	110	0	4.583729e-01	0	13	0	110	2			0	0	0	0		1	1.000000	25	176	0	111	2								-10.716640	1	0	0	0		1	0	0	0	1.994361	0	0.360000	1.990000	0.357688	0.630000	0.410000	0.880000	0.620000	0.645227	0.630000	0	0.510000	0.760000
PDZD2	23037	broad.mit.edu	37	5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	p.C2022Y(1)		148					GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635000																								1	Substitution - Missense(1)						SO:0001651	inframe_deletion			ENST00000438447.1	1	1	hg19	CCDS34137.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	0	0	0	37	1259	0	784	0	2.582762e-03	0	3	0	784	2			0	0	0	0		1	0.903067	135	1349	10	784	32								-2.095622	0	1	0	0		1	0	0	0	1.992041	0	0.360000	1.990000	0.357688	0.150000	0.100000	0.210000	0.160000	0.161833	0.150000	0	0.120000	0.190000
DOCK11	139818	broad.mit.edu	37	X	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276202.7	+	25	2796_2806	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.LRSF912fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11			84					TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313000																								0							SO:0001589	frameshift_variant			ENST00000276202.7	1	1	hg19	CCDS35373.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	0	0	78	694	0	176	1	9.377920e-01	2	41	0	176	2			0	0	0	0		1	1.000000	125	740	3	178	29								-3.221883	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.550000	0.440000	0.680000	0.560000	0.565727	0.550000	0	0.490000	0.620000
KIAA1217	56243	broad.mit.edu	37	10	24762714	24762714	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376454.3	+	6	1434	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S	KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376452.3_Silent_p.S468S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					CACTGGGCTCCAAAACACCCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000376454.3	1	1	hg19	CCDS31165.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1	78	350	0	164	1	1	46	155	0	164	2	0	0	0	1	0	0	2	1	1.000000	78	346	0	161	2								-3.313313	1	1	0	0		1	1	2	3	2.003885	0	0.360000	1.990000	0.361150	0.990000	0.810000	1.000000	1.000000	0.967364	0.990000	1	0.910000	1.000000
ZEB1	6935	broad.mit.edu	37	10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000320985.10	+	7	2661	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1			77		Prostate(175;0.0156)			TACGGTCAGCCCTGCAGTCCA	0.463000													Ovarian(40;423 959 14296 36701 49589)											0							SO:0001583	missense			ENST00000320985.10	1	1	hg19	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067296	0.36470	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13778	2.86;2.57;2.59;2.56;2.6	5.68	4.78	0.61160	.	0.000000	0.56097	D	0.000028	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	B;D;D;P;D;B;D;P	0.89917	0.328;1.0;1.0;0.615;1.0;0.04;1.0;0.615	B;D;D;B;D;B;D;B	0.87578	0.076;0.998;0.996;0.158;0.996;0.034;0.996;0.158	T	0.03566	-1.1024	10	0.15499	T	0.54	-7.6384	15.0713	0.72040	0.0:0.9318:0.0:0.0682	.	784;851;835;851;851;831;852;851	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	633;851;852;846;784;851;831;742;835	ENSP00000444282:P633S;ENSP00000354487:P852S;ENSP00000444891:P784S;ENSP00000319248:P851S;ENSP00000391612:P835S	ENSP00000319248:P851S	P	+	1	0	ZEB1	31850820	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.779000	0.55379	1.534000	0.49203	0.650000	0.86243	CCT		TCGA-IB-7652-01A-11D-2154-08	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1	62	270	0	112	0	1	0	157	0	112	2		0	0	0	0	0	2	1	1.000000	62	266	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.003885	0	0.360000	1.990000	0.361150	0.990000	0.810000	1.000000	1.000000	0.972076	0.990000	1	0.920000	1.000000
MYOZ1	58529	broad.mit.edu	37	10	75399731	75399731	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1			myozenin 1			12	Prostate(51;0.0112)				TCAGCTTGCTGGATTTCCTCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000359322.4	1	1	hg19	CCDS7330.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1	1	0	1	75	340	0	213	0	9.655258e-01	0	27	0	213	2		0	0	0	0	0	2	1	1.000000	73	338	0	213	2								-2.961924	1	1	0	0		1	1	2	3	2.023677	0	0.360000	1.990000	0.364575	0.990000	0.810000	1.000000	1.000000	0.966415	0.990000	1	0.900000	1.000000
NPAT	4863	broad.mit.edu	37	11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		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)			TGTAACATTTCTGTGGTAATC	0.433000																								0							SO:0001583	missense			ENST00000278612.8	1	1	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	.	0.300838	0.34580	N	0.003851	T	0.23289	0.0563	M	0.69823	2.125	0.58432	D	0.999999	D	0.55385	0.971	P	0.53401	0.725	T	0.00164	-1.1968	10	0.66056	D	0.02	-12.4987	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1245	Q14207	NPAT_HUMAN	K	1245	ENSP00000278612:E1245K	ENSP00000278612:E1245K	E	-	1	0	NPAT	107537290	1.000000	0.71417	0.909000	0.35828	0.109000	0.19521	6.781000	0.75068	2.890000	0.99128	0.650000	0.86243	GAA		TCGA-IB-7652-01A-11D-2154-08	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	0	0	0	40	1398	0	423	0	7.800570e-01	1	101	0	423	2		0	0	0	0	0	2	1	1.000000	39	1387	0	419	2								-2.614862	1	1	120822	1	35	1	1	2	3	2.285822	1	0.360000	1.990000	0.437016	0.180000	0.120000	1.000000	0.170000	0.322576	0.180000	0	0.140000	1.000000
FDXACB1	91893	broad.mit.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000529270.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1			19					AGTCCACACCGAAACGTACAT	0.458000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000260257.4	0	1	hg19	CCDS44729.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	0	0	0	3	73	0	45	0	2.905908e-01	0	21	0	45	2		0	0	0	0	0	2	1	0.812541	3	73	0	45	2								-6.198291	1	0	120856	1	22	1	1	2	3	2.285822	1	0.360000	1.990000	0.437016	0.330000	0.080000	1.000000	0.250000	0.437134	0.330000	0	0.170000	1.000000
OR9G1	390174	broad.mit.edu	37	11	56468064	56468064	+	Silent	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1			31					ATCTGTCGTTTCTGGATCTCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000312153.1	1	1	hg19	CCDS31536.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	0	0	0	72	489	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1.000000	67	395	0	150	2								-20.000000	1	1	0	0		1	0	0	0	1.914842	0	0.360000	1.990000	0.328577	0.670000	0.530000	0.830000	0.680000	0.684137	0.670000	0	0.600000	0.760000
SLC22A11	55867	broad.mit.edu	37	11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11			23				Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCTTTGCCCTGCGGGACTGG	0.627000																								0							SO:0001583	missense			ENST00000301891.4	0	1	hg19	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	18.76	3.692873	0.68271	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.68181	-0.31;-0.31;-0.31	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173586	0.38326	U	0.001730	T	0.81772	0.4893	M	0.86502	2.82	0.38636	D	0.951485	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.969;0.998;0.98;0.98	D	0.85294	0.1069	10	0.87932	D	0	.	10.2369	0.43288	0.0:0.0:0.0:1.0	.	252;46;252;252	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	Q	252	ENSP00000301891:L252Q;ENSP00000366809:L252Q;ENSP00000366804:L252Q	ENSP00000301891:L252Q	L	+	2	0	SLC22A11	64086417	0.996000	0.38824	1.000000	0.80357	0.752000	0.42762	6.548000	0.73896	1.512000	0.48834	0.454000	0.30748	CTG		TCGA-IB-7652-01A-11D-2154-08	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	0	0	0	11	662	0	271	0	1.008534e-03	0	3	0	271	2		0	0	0	0	0	2	1	0.998319	11	659	0	266	2								-8.621009	1	0	0	0		1	1	2	3	2.051876	0	0.360000	1.990000	0.369085	0.090000	0.040000	1.000000	0.090000	0.157837	0.090000	0	0.060000	0.140000
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase			32		Melanoma(852;0.0525)		Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622000																								0							SO:0001583	missense			ENST00000393958.2	1	1	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		TCGA-IB-7652-01A-11D-2154-08	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	1	0	1	48	269	0	146	0	8.045444e-01	1	18	0	146	2		0	0	0	0	0	2	1	1.000000	48	269	0	143	2								-19.999710	1	1	0	0		1	1	2	3	2.051876	0	0.360000	1.990000	0.369085	0.860000	0.640000	1.000000	1.000000	0.863497	0.860000	1	0.740000	1.000000
OR10A6	390093	broad.mit.edu	37	11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6			22					TGAAAATATAATTAATTTCAT	0.338000																								0							SO:0001583	missense			ENST00000309838.2	1	1	hg19	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.614618	0.13200	N	0.406025	T	0.30039	0.0752	N	0.16862	0.45	0.09310	N	1	B	0.22080	0.064	B	0.23852	0.049	T	0.24225	-1.0166	10	0.62326	D	0.03	.	11.9092	0.52729	1.0:0.0:0.0:0.0	.	145	Q8NH74	O10A6_HUMAN	T	145	ENSP00000312470:I145T	ENSP00000312470:I145T	I	-	2	0	OR10A6	7906352	0.000000	0.05858	0.154000	0.22540	0.014000	0.08584	1.296000	0.33389	1.983000	0.57843	0.533000	0.62120	ATT		TCGA-IB-7652-01A-11D-2154-08	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	1	0	1	83	266	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1.000000	82	265	0	62	2								-20.000000	1	1	121338	9	40	1	0	1	1	1.639578	1	0.360000	1.990000	0.219512	0.950000	0.820000	1.000000	0.990000	0.947551	0.950000	1	0.890000	0.990000
CCDC81	60494	broad.mit.edu	37	11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000445632.2	+	14	2058	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81			20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)			GATGAAGAAGCAGCGAGACCT	0.517000																								0							SO:0001587	stop_gained			ENST00000445632.2	0	1	hg19	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	.	0.208392	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0404	17.2949	0.87168	0.0:1.0:0.0:0.0	.	.	.	.	X	506;331;596;331	.	.	Q	+	1	0	CCDC81	85808712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.566000	0.45948	2.685000	0.91497	0.555000	0.69702	CAG		TCGA-IB-7652-01A-11D-2154-08	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	1	0	1	63	271	0	147	0	3.214115e-01	0	6	0	147	2		0	0	0	0	0	2	1	1.000000	63	270	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.011981	0	0.360000	1.990000	0.361150	0.990000	0.820000	1.000000	1.000000	0.975612	0.990000	1	0.930000	1.000000
GPR83	10888	broad.mit.edu	37	11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83			19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			AGTGAGAAGACAATGATGAAG	0.557000																								0							SO:0001583	missense			ENST00000243673.2	1	1	hg19	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475211	0.43942	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39997	1.05;1.05	4.84	-4.47	0.03525	.	0.508381	0.21011	N	0.081692	T	0.33673	0.0871	L	0.59436	1.845	0.44702	D	0.997697	B	0.19706	0.038	B	0.17433	0.018	T	0.02774	-1.1112	10	0.46703	T	0.11	.	11.5618	0.50780	0.0:0.4821:0.0:0.5179	.	83	Q9NYM4	GPR83_HUMAN	F	83	ENSP00000243673:V83F;ENSP00000441550:V83F	ENSP00000243673:V83F	V	-	1	0	GPR83	93773815	0.059000	0.20769	0.684000	0.30055	0.982000	0.71751	0.089000	0.15002	-1.110000	0.02992	0.455000	0.32223	GTC		TCGA-IB-7652-01A-11D-2154-08	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	1	0	1	38	135	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	38	134	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.011981	0	0.360000	1.990000	0.361150	0.990000	0.900000	1.000000	1.000000	0.993773	0.990000	1	0.990000	1.000000
TAS2R42	353164	broad.mit.edu	37	12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42			11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)		AAGGAACTGAGCTTCAAATTT	0.418000													Melanoma(15;352 722 10077 19546 48810)											0							SO:0001583	missense			ENST00000334266.1	1	1	hg19	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.571166	0.14537	N	0.313489	T	0.02304	0.0071	M	0.69248	2.105	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.38650	-0.9651	10	0.49607	T	0.09	.	6.0575	0.19819	0.0:0.2103:0.5725:0.2171	.	216	Q7RTR8	T2R42_HUMAN	F	216	ENSP00000334050:L216F	ENSP00000334050:L216F	L	-	1	0	TAS2R42	11230165	0.000000	0.05858	0.250000	0.24296	0.001000	0.01503	0.335000	0.19806	0.302000	0.22762	-1.083000	0.02208	CTC		TCGA-IB-7652-01A-11D-2154-08	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	1	0	1	83	384	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1.000000	82	383	0	91	2								-20.000000	1	1	0	0		1	2	2	4	2.241829	1	0.360000	1.990000	0.429793	0.990000	0.910000	1.000000	1.000000	0.993728	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	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	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-7652-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	8	85	0	45	1	9.788113e-01	31	45	0	45	2	1	9.999997e-01	69	457	0	403	2	1	0.989988	8	84	0	45	2								-5.897826	1	1	0	0		1	2	2	4	2.241829	1	0.360000	1.990000	0.429793	0.620000	0.280000	1.000000	1.000000	0.671172	0.620000	0	0.420000	1.000000
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000331010.6	+	1	664	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R207Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	p.R194P(1)		22					TATGAAACGCGATGTAAGGAA	0.507000													GBM(194;1104 2182 8339 9578 18493)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000331010.6	1	1	hg19	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118561	0.77323	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.68181	-0.31;-0.31	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.72203	0.3431	M	0.64997	1.995	0.46564	D	0.999104	D;D	0.76494	0.999;0.999	P;P	0.48815	0.591;0.591	T	0.76664	-0.2876	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	Q	207;194	ENSP00000397297:R207Q;ENSP00000328738:R194Q	ENSP00000328738:R194Q	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA		TCGA-IB-7652-01A-11D-2154-08	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	1	0	1	47	254	0	114	0	3.072200e-01	0	7	0	114	2		0	0	0	0	0	2	1	1.000000	47	251	0	112	2								-19.999850	1	1	0	0		1	2	2	4	2.241829	1	0.360000	1.990000	0.429793	0.990000	0.740000	1.000000	1.000000	0.952284	0.990000	1	0.860000	1.000000
GDF11	10220	broad.mit.edu	37	12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11			12					CAACGCCTTTGATCCCAGTGG	0.622000																								0							SO:0001583	missense			ENST00000257868.5	1	1	hg19	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350476|4.350476	0.82132|0.82132	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.66280|.	-0.2|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.40728|.	T|.	0.16|.	-6.1484|-6.1484	14.8487|14.8487	0.70281|0.70281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263|.	O95390|.	GDF11_HUMAN|.	H|F	263|235	ENSP00000257868:D263H|.	ENSP00000257868:D263H|.	D|L	+|+	1|3	0|2	GDF11|GDF11	54428978|54428978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	GAT|TTG		TCGA-IB-7652-01A-11D-2154-08	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3	1	0	1	20	55	0	52	0	9.990535e-01	1	35	0	52	2		0	0	0	0	0	2	1	0.999999	20	55	0	52	2								-20.000000	1	1	0	0		1	0	2	2	1.857793	1	0.360000	1.990000	0.360000	0.990000	0.990000	1.000000	1.000000	0.997890	0.990000	1	0.990000	1.000000
PDS5B	23047	broad.mit.edu	37	13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)			62		Lung SC(185;0.0367)			AAAAGACTTAACAGGTACTAT	0.368000																								0							SO:0001583	missense			ENST00000315596.10	1	1	hg19	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.54323	1.7	0.80722	D	1	P;B	0.45827	0.867;0.057	P;B	0.53062	0.717;0.058	T	0.67166	-0.5739	10	0.18276	T	0.48	-0.3507	15.5881	0.76502	1.0:0.0:0.0:0.0	.	352;352	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	S	352	ENSP00000313851:T352S	ENSP00000313851:T352S	T	+	1	0	PDS5B	32151063	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.191000	0.94940	2.090000	0.63153	0.459000	0.35465	ACA		TCGA-IB-7652-01A-11D-2154-08	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1	36	185	0	76	1	9.996982e-01	5	62	0	76	2		0	0	0	0	0	2	1	1.000000	36	184	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.096311	0	0.360000	1.990000	0.375732	0.940000	0.670000	1.000000	1.000000	0.917059	0.940000	1	0.800000	1.000000
PDS5B	23047	broad.mit.edu	37	13	33332728	33332728	+	Silent	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)			62		Lung SC(185;0.0367)			AGAGTACTACATACAGTTTGG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000315596.10	1	1	hg19	CCDS41878.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1	122	575	0	202	1	9.999859e-01	12	64	0	202	2		0	0	0	0	0	2	1	1.000000	122	568	0	198	2								-20.000000	1	1	120812	1	36	1	1	2	3	2.096311	0	0.360000	1.990000	0.375732	0.990000	0.840000	1.000000	1.000000	0.970807	0.990000	1	0.910000	1.000000
AKAP6	9472	broad.mit.edu	37	14	33291794	33291794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:33291794G>A	ENST00000280979.4	+	13	4945	c.4775G>A	c.(4774-4776)cGa>cAa	p.R1592Q	AKAP6_ENST00000557272.1_Intron	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)		AGCCTCCAGCGAAGCACTTCT	0.433000													Melanoma(49;821 1200 7288 13647 42351)											0							SO:0001583	missense			ENST00000280979.4	1	0	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344158	0.82022	.	.	ENSG00000151320	ENST00000280979	T	0.15834	2.39	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.25779	-1.0122	10	0.87932	D	0	-9.1931	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1592	Q13023	AKAP6_HUMAN	Q	1592	ENSP00000280979:R1592Q	ENSP00000280979:R1592Q	R	+	2	0	AKAP6	32361545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.335000	0.79234	2.843000	0.97960	0.650000	0.86243	CGA		TCGA-IB-7652-01A-11D-2154-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	0	1	126	536	2	196	0	3.681493e-02	0	2	2	196	2		0	0	0	0	0	2	1	1.000000	126	532	1	194	13								-20.000000	1	1	121406	5	38	1	1	2	3	2.005040	0	0.360000	1.990000	0.361150	0.990000	0.890000	1.000000	1.000000	0.988767	0.990000	1	0.970000	1.000000
ERO1L	30001	broad.mit.edu	37	14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)		ERO1L/FERMT2(2)	12	Breast(41;0.226)				GAAGTTTTCTAATTCTTTCAC	0.303000																								0							SO:0001587	stop_gained			ENST00000395686.3	0	1	hg19	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	A	38	7.030927	0.98013	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.54	5.54	0.83059	.	0.224298	0.37906	N	0.001898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.329	15.1606	0.72782	1.0:0.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000379042:L457X	L	-	2	0	ERO1L	52180075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.104000	0.89551	2.230000	0.72887	0.528000	0.53228	TTA		TCGA-IB-7652-01A-11D-2154-08	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	0	0	1	4	43	0	22	1	9.999921e-01	201	435	0	22	2		0	0	0	0	0	2	1	0.893282	4	43	0	21	2								-9.338282	1	1	0	0		1	1	2	3	2.005040	0	0.360000	1.990000	0.361150	0.510000	0.180000	1.000000	1.000000	0.541594	0.510000	0	0.310000	0.770000
DAAM1	23002	broad.mit.edu	37	14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S|DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					CTATCATGTATCCTCAACTTT	0.418000																								0							SO:0001583	missense			ENST00000395125.1	1	1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954100	0.73902	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89050	-2.46;-2.46;-2.46	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	L	0.44542	1.39	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.55749	0.677;0.783	D	0.91609	0.5301	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	161;161	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	161	ENSP00000354162:I161S;ENSP00000247170:I161S;ENSP00000378557:I161S	ENSP00000247170:I161S	I	+	2	0	DAAM1	58859404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATC		TCGA-IB-7652-01A-11D-2154-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	0	1	99	505	0	189	1	9.997456e-01	21	42	0	189	2		0	0	0	0	0	2	1	1.000000	99	500	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.005040	0	0.360000	1.990000	0.361150	0.900000	0.750000	1.000000	1.000000	0.908312	0.900000	1	0.820000	1.000000
AK7	122481	broad.mit.edu	37	14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	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)			GGGGCTTCGCTTGAAGAAATT	0.418000																								0							SO:0001583	missense			ENST00000267584.4	1	1	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	.	0.410741	0.24182	N	0.040799	T	0.72771	0.3502	L	0.60455	1.87	0.54753	D	0.99998	B;D	0.89917	0.206;1.0	B;D	0.91635	0.043;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.42	14.9864	0.71351	0.0:0.0:0.0:1.0	.	46;46	Q96M32;G3V365	KAD7_HUMAN;.	R	46	ENSP00000267584:L46R	ENSP00000267584:L46R	L	+	2	0	AK7	95934196	0.996000	0.38824	0.290000	0.24890	0.970000	0.65996	5.104000	0.64584	2.044000	0.60594	0.402000	0.26972	CTT		TCGA-IB-7652-01A-11D-2154-08	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	1	78	487	0	178	1	9.655152e-01	13	23	0	178	2		0	0	0	0	0	2	1	1.000000	77	483	0	174	2								-20.000000	1	1	0	0		1	1	2	3	2.330571	1	0.360000	1.990000	0.454297	0.900000	0.720000	1.000000	1.000000	0.900107	0.900000	1	0.800000	1.000000
LRRK1	79705	broad.mit.edu	37	15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000388948.3	+	6	1003	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	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)		TTCCTGCTTCGGCATGGGGCC	0.483000																								0							SO:0001583	missense			ENST00000388948.3	1	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200254	0.38905	2.5E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70164	-0.46;-0.06;-0.46	5.27	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.357809	0.27245	N	0.020253	T	0.43590	0.1254	N	0.11560	0.145	0.27090	N	0.962887	B;B	0.23891	0.0;0.093	B;B	0.17098	0.001;0.017	T	0.27468	-1.0073	10	0.26408	T	0.33	.	9.4521	0.38731	0.1609:0.0:0.8391:0.0	.	215;215	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	Q	215;212;215	ENSP00000373600:R215Q;ENSP00000284395:R212Q;ENSP00000433268:R215Q	ENSP00000284395:R212Q	R	+	2	0	LRRK1	99347008	0.896000	0.30565	0.239000	0.24122	0.988000	0.76386	3.161000	0.50747	1.362000	0.46000	0.650000	0.86243	CGG		TCGA-IB-7652-01A-11D-2154-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1	98	554	0	248	1	9.931688e-01	7	38	0	248	2		0	0	0	0	0	2	1	1.000000	97	551	0	247	2								-2.774986	1	1	120936	1	37	1	1	2	3	2.394756	1	0.360000	1.990000	0.457627	0.980000	0.810000	1.000000	1.000000	0.958141	0.980000	1	0.890000	1.000000
HOMER2	9455	broad.mit.edu	37	15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)			9					CGTGAGAGGCCTTTTCATCGT	0.498000																								0							SO:0001583	missense			ENST00000304231.8	1	1	hg19	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741498	0.69304	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.79454	2.15;-1.27;2.42;2.43	5.39	3.46	0.39613	.	0.094216	0.64402	D	0.000001	T	0.77883	0.4197	L	0.60455	1.87	0.39080	D	0.960886	B;D;D;P	0.57899	0.338;0.981;0.96;0.893	B;P;P;P	0.53360	0.187;0.724;0.711;0.486	T	0.75777	-0.3198	10	0.25106	T	0.35	.	9.2512	0.37555	0.0:0.7746:0.0:0.2254	.	140;151;140;151	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	N	151;140;151;140	ENSP00000305632:K151N;ENSP00000407634:K140N;ENSP00000394293:K151N;ENSP00000382119:K140N	ENSP00000305632:K151N	K	-	3	2	HOMER2	81324909	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.921000	0.40035	1.478000	0.48253	0.651000	0.88453	AAG		TCGA-IB-7652-01A-11D-2154-08	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1	1	0	1	134	721	0	251	1	1	16	191	0	251	2		0	0	0	0	0	2	1	1.000000	133	711	0	247	2								-20.000000	1	1	0	0		1	1	2	3	2.394756	1	0.360000	1.990000	0.457627	0.990000	0.860000	1.000000	1.000000	0.980709	0.990000	1	0.940000	1.000000
AGBL1	123624	broad.mit.edu	37	15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1			62					CAAGATGTTCTCTGCCAGACG	0.483000																								0							SO:0001583	missense			ENST00000441037.2	0	1	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040625	0.75732	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000003	T	0.50701	0.1631	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.66500	-0.5908	10	0.87932	D	0	-23.9349	13.6996	0.62599	0.0:0.0:0.0:1.0	.	415;447;716	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	745;716;447	ENSP00000397173:L716P;ENSP00000373949:L447P	ENSP00000373949:L447P	L	+	2	0	AGBL1	84639554	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	6.505000	0.73708	2.170000	0.68504	0.528000	0.53228	CTC		TCGA-IB-7652-01A-11D-2154-08	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	0	0	0	10	286	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	0.996909	10	284	0	120	2								-11.319690	1	1	0	0		1	1	2	3	2.394756	1	0.360000	1.990000	0.457627	0.220000	0.110000	0.390000	0.210000	0.241013	0.220000	0	0.160000	0.310000
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3			40					CAGCAGTTACGAGCCAAATCC	0.488000																								0							SO:0001583	missense			ENST00000005284.3	1	1	hg19	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87820	0.2637	10	0.32370	T	0.25	-7.4112	17.8423	0.88718	0.0:0.0:1.0:0.0	.	208	O60359	CCG3_HUMAN	Q	208	ENSP00000005284:R208Q	ENSP00000005284:R208Q	R	+	2	0	CACNG3	24280360	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGA		TCGA-IB-7652-01A-11D-2154-08	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	1	0	1	69	610	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	1.000000	68	606	1	195	13								-3.017764	1	1	121412	1	37	1	1	2	3	2.050207	0	0.360000	1.990000	0.367964	0.570000	0.450000	1.000000	0.570000	0.600385	0.570000	0	0.500000	0.660000
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		TCGA-IB-7652-01A-11D-2154-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	51	164	1	117	1	1	87	81	1	117	7	1	1	219	657	0	906	2	1	1.000000	51	161	1	114	9								-4.108127	1	1	121412	1	41	1	0	1	1	1.717425	1	0.360000	1.990000	0.236277	0.990000	0.810000	1.000000	1.000000	0.968696	0.990000	1	0.910000	1.000000
DNAH17	8632	broad.mit.edu	37	17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000585328.1	-	57	9077	c.8953T>C	c.(8953-8955)Ttc>Ctc	p.F2985L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L	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)		TAGGACATGAAGAAGCTGATG	0.542000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	.	.	.	.	.	T	0.64283	0.2584	M	0.64676	1.99	0.47862	D	0.999534	.	.	.	.	.	.	T	0.67917	-0.5546	7	0.66056	D	0.02	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	.	.	.	L	2985;2976	ENSP00000374490:F2976L	ENSP00000300671:F2985L	F	-	1	0	DNAH17	73970727	1.000000	0.71417	0.940000	0.37924	0.747000	0.42532	8.838000	0.92115	1.847000	0.53656	0.454000	0.30748	TTC		TCGA-IB-7652-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	46	133	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1.000000	46	132	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.683774	1	0.360000	1.990000	0.222924	0.960000	0.800000	1.000000	1.000000	0.950506	0.960000	1	0.890000	1.000000
DNAH17	8632	broad.mit.edu	37	17	76571032	76571032	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000585328.1	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000389840.5_Silent_p.N36N	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)		ACAGGGCCACGTTCTCCTCGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000585328.1	1	1	hg19																																																																																					TCGA-IB-7652-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	0	10	138	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.996995	9	137	0	87	2								-3.078173	1	1	121024	17	43	1	0	1	1	1.683774	1	0.360000	1.990000	0.222924	0.310000	0.160000	0.520000	0.300000	0.327691	0.310000	0	0.220000	0.420000
ZNF521	25925	broad.mit.edu	37	18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K	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)				AAGTCAGTTTCGTTGCGGAAG	0.473000			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	10.38	1.334661	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.1;3.13	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04116	-0.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.41752	-0.9491	10	0.07482	T	0.82	-36.5484	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764	Q96K83	ZN521_HUMAN	K	764;798;764	ENSP00000354794:E764K;ENSP00000382352:E764K	ENSP00000354794:E764K	E	-	1	0	ZNF521	21059590	1.000000	0.71417	0.973000	0.42090	0.406000	0.30931	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-IB-7652-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	0	28	261	0	98	0	8.805710e-01	0	37	0	98	2		0	0	0	0	0	2	1	1.000000	27	260	0	97	2								-3.221884	1	1	0	0		1	0	1	1	1.639204	1	0.360000	1.990000	0.219512	0.430000	0.300000	0.600000	0.440000	0.448423	0.430000	0	0.360000	0.520000
GALR1	2587	broad.mit.edu	37	18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		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)			GCACTCGCGGCGCTCCTCCTC	0.657000																								0							SO:0001583	missense			ENST00000299727.3	1	1	hg19	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.053378	0.64402	D	0.000001	T	0.60919	0.2306	M	0.79805	2.47	0.58432	D	0.999997	D	0.65815	0.995	P	0.60345	0.873	T	0.67213	-0.5727	10	0.87932	D	0	.	11.9672	0.53042	0.1737:0.8263:0.0:0.0	.	142	P47211	GALR1_HUMAN	C	142	ENSP00000299727:R142C	ENSP00000299727:R142C	R	+	1	0	GALR1	73091916	0.998000	0.40836	1.000000	0.80357	0.380000	0.30137	3.631000	0.54280	2.044000	0.60594	0.591000	0.81541	CGC		TCGA-IB-7652-01A-11D-2154-08	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1	1	0	1	54	212	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1.000000	54	211	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.961344	0	0.360000	1.990000	0.345871	0.990000	0.850000	1.000000	1.000000	0.985237	0.990000	1	0.960000	1.000000
COL5A3	50509	broad.mit.edu	37	19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		ccgggggcgccgggcTCCCCA	0.607000																								0							SO:0001583	missense			ENST00000264828.3	0	1	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851005	0.32699	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	3.28	3.28	0.37604	.	0.000000	0.64402	U	0.000001	D	0.99651	0.9871	H	0.94658	3.565	0.51482	D	0.999926	D	0.89917	1.0	D	0.85130	0.997	D	0.97697	1.0182	10	0.87932	D	0	.	10.3456	0.43903	0.0:1.0:0.0:0.0	.	1304	P25940	CO5A3_HUMAN	S	1304	ENSP00000264828:G1304S	ENSP00000264828:G1304S	G	-	1	0	COL5A3	9942324	0.354000	0.24912	0.334000	0.25495	0.015000	0.08874	2.226000	0.42963	2.126000	0.65437	0.486000	0.48141	GGC		TCGA-IB-7652-01A-11D-2154-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	0	5	26	0	20	0	7.303493e-01	0	15	0	20	2		0	0	0	0	0	2	1	0.937878	4	26	0	19	2								-11.583800	1	1	118176	4	26	1	1	2	3	2.079962	0	0.360000	1.990000	0.373532	0.980000	0.390000	1.000000	1.000000	0.861715	0.980000	1	0.640000	1.000000
CACNA1A	773	broad.mit.edu	37	19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	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)	CGTAGGGTCCCTCCCGGCTCA	0.771000																								0							SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	.	4.895700	0.00541	N	0.000225	D	0.94948	0.8366	L	0.34521	1.04	0.20703	N	0.999864	B;P;D	0.58268	0.0;0.729;0.982	B;B;D	0.67548	0.001;0.21;0.952	D	0.86068	0.1536	10	0.21540	T	0.41	.	2.0266	0.03520	0.2518:0.3677:0.0:0.3805	.	895;898;894	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	894;898;895;895	ENSP00000353362:E894D	ENSP00000317661:E895D	E	-	3	2	CACNA1A	13270765	0.044000	0.20184	0.901000	0.35422	0.017000	0.09413	-0.312000	0.08113	0.768000	0.33290	-0.481000	0.04817	GAG		TCGA-IB-7652-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	0	13	48	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	0.999734	13	48	0	37	2								-19.999990	1	1	0	0		1	1	2	3	2.079962	0	0.360000	1.990000	0.373532	0.990000	0.710000	1.000000	1.000000	0.972150	0.990000	1	0.950000	1.000000
TIMM50	92609	broad.mit.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000607714.1	+	11	1068	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	p.R452H(1)		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)		TTGTGGCCTCGCTCCAAACAG	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000607714.1	0	1	hg19		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC		TCGA-IB-7652-01A-11D-2154-08	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	1	0	0	3	43	0	21	0	9.939711e-01	0	189	0	21	2		0	0	0	0	0	2	1	0.812613	3	43	0	21	2								-4.600715	1	1	121346	30	37	1	1	2	3	2.079962	0	0.360000	1.990000	0.373532	0.440000	0.120000	1.000000	0.360000	0.506552	0.440000	0	0.250000	0.800000
SEMA6B	10501	broad.mit.edu	37	19	4555520	4555520	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B			21		Hepatocellular(1079;0.137)			GCTTGGGGTCGTACGGGCAGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000586582.1	1	1	hg19	CCDS12131.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	1	0	1	39	178	0	123	0	9.999966e-01	0	92	0	123	2		0	0	0	0	0	2	1	1.000000	39	178	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.085608	0	0.360000	1.990000	0.373532	0.990000	0.750000	1.000000	1.000000	0.959431	0.990000	1	0.880000	1.000000
KCNA2	3737	broad.mit.edu	37	1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2			32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Dalfampridine(DB06637)	CTGTGGGTGCCCAGGGAGGGC	0.597000													Pancreas(18;568 735 10587 23710 36357)											0							SO:0001583	missense			ENST00000485317.1	1	1	hg19	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638576	0.67130	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96334	-1.29;-3.98;-3.98;-3.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.56769	1.78	0.80722	D	1	B;P	0.45011	0.262;0.848	B;P	0.52823	0.101;0.71	D	0.94141	0.7397	10	0.17369	T	0.5	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	17;17	Q86XG6;P16389	.;KCNA2_HUMAN	V	17	ENSP00000358785:G17V;ENSP00000433109:G17V;ENSP00000415257:G17V;ENSP00000314520:G17V	ENSP00000314520:G17V	G	-	2	0	KCNA2	110948878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGG		TCGA-IB-7652-01A-11D-2154-08	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	1	0	1	150	768	0	396		0	0	0	0	396	2		0	0	0	0	0	2	1	1.000000	147	757	0	386	2								-3.319885	1	1	0	0		1	1	2	3	2.036830	0	0.360000	1.990000	0.366838	0.910000	0.780000	1.000000	1.000000	0.919445	0.910000	1	0.840000	1.000000
VPS13D	55187	broad.mit.edu	37	1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	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)			CCTGGAGCCTGTGTTTGCATC	0.542000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748117	0.69533	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41400	1.0;1.0	5.94	5.03	0.67393	.	0.125158	0.53938	D	0.000060	T	0.37598	0.1009	L	0.50333	1.59	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.30572	0.117;0.055	T	0.26744	-1.0094	10	0.54805	T	0.06	.	9.8912	0.41292	0.1488:0.0:0.8512:0.0	.	242;242	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	242	ENSP00000348666:V242L;ENSP00000350854:V242L	ENSP00000348666:V242L	V	+	1	0	VPS13D	12239031	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GTG		TCGA-IB-7652-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	295	671	0	270	1	9.997890e-01	10	21	0	270	2		0	0	0	0	0	2	1	1.000000	292	662	0	267	2								-20.000000	1	1	0	0		1	0	4	4	2.454452	1	0.360000	1.990000	0.504491	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FLG	2312	broad.mit.edu	37	1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	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)		GACCCTGAACGTCGAGACCTT	0.567000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	.	.	.	.	.	T	0.00906	0.0030	M	0.77820	2.39	0.09310	N	1	D	0.64830	0.994	B	0.40038	0.317	T	0.43245	-0.9403	9	0.62326	D	0.03	.	2.9569	0.05880	0.1583:0.0:0.4366:0.4051	.	789	P20930	FILA_HUMAN	C	789	ENSP00000357789:R789C	ENSP00000357789:R789C	R	-	1	0	FLG	150551621	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.133000	0.10451	-0.248000	0.09583	0.479000	0.44913	CGT		TCGA-IB-7652-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	0	40	1793	0	691	0	0	0	1	0	691	2		0	0	0	0	0	2	1	1.000000	40	1776	0	680	2								-2.753389	1	1	121410	3	39	1	1	2	3	2.070548	0	0.360000	1.990000	0.371316	0.120000	0.080000	1.000000	0.130000	0.196933	0.120000	0	0.100000	0.160000
FMO1	2326	broad.mit.edu	37	1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*	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)	CCAGTGGGACCGAACATTCAA	0.478000																								0							SO:0001587	stop_gained			ENST00000354841.4	0	1	hg19	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1246	9.8702	0.41168	0.139:0.7877:0.0:0.0732	.	.	.	.	X	494;431;494	.	ENSP00000346901:R494X	R	+	1	2	FMO1	169521188	0.653000	0.27358	0.971000	0.41717	0.929000	0.56500	1.341000	0.33907	1.372000	0.46190	-0.259000	0.10710	CGA		TCGA-IB-7652-01A-11D-2154-08	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	1	0	1	78	339	0	92	0	9.989949e-01	0	47	0	92	2		0	0	0	0	0	2	1	1.000000	78	338	0	92	2								-2.852775	1	1	0	0		1	1	2	3	2.029486	0	0.360000	1.990000	0.365709	0.990000	0.840000	1.000000	1.000000	0.979895	0.990000	1	0.940000	1.000000
ASPM	259266	broad.mit.edu	37	1	197071382	197071382	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	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					CCCTGTGCATCTCTCGCATCC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000367409.4	1	1	hg19	CCDS1389.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	116	561	0	195	1	4.743704e-01	2	7	0	195	2		0	0	0	0	0	2	1	1.000000	116	559	0	192	2								-20.000000	1	1	0	0		1	1	2	3	2.011309	0	0.360000	1.990000	0.361150	0.940000	0.790000	1.000000	1.000000	0.941168	0.940000	1	0.870000	1.000000
PCNXL2	80003	broad.mit.edu	37	1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			ATTGCCTTCGGGACAGGGAAC	0.572000																								0							SO:0001583	missense			ENST00000258229.9	1	1	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	.	.	.	.	.	T	0.06462	0.0166	N	0.19112	0.55	0.23293	N	0.997962	B	0.28713	0.22	B	0.24006	0.05	T	0.33292	-0.9874	9	0.23891	T	0.37	.	13.897	0.63778	0.0:0.0:0.8472:0.1528	.	446	A6NKB5	PCX2_HUMAN	R	446	ENSP00000258229:P446R	ENSP00000258229:P446R	P	-	2	0	PCNXL2	231460894	0.205000	0.23458	0.018000	0.16275	0.005000	0.04900	2.254000	0.43214	2.484000	0.83849	0.655000	0.94253	CCC		TCGA-IB-7652-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1	106	376	0	211	1	9.985190e-01	11	26	0	211	2		0	0	0	0	0	2	1	1.000000	106	371	0	209	2								-3.658720	1	1	0	0		1	0	0	0	1.987797	0	0.360000	1.990000	0.355359	0.990000	0.990000	1.000000	1.000000	0.999471	0.990000	1	0.990000	1.000000
CSMD2	114784	broad.mit.edu	37	1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373380.1	-	22	3495	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000489419.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			GAGGTTGAGGCGGACGCCATG	0.577000																								0							SO:0001583	missense			ENST00000373380.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657455	0.29425	0.0	1.16E-4	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.28	-3.3	0.05003	CUB (5);	0.777035	0.12272	N	0.483686	T	0.07773	0.0195	N	0.16478	0.41	0.26223	N	0.979134	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39375	-0.9617	10	0.18710	T	0.47	.	7.3106	0.26473	0.1403:0.1536:0.0:0.7061	.	1092;2221;2219	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	2219;1092;318;318	ENSP00000362479:R2219H;ENSP00000362478:R1092H;ENSP00000362475:R318H;ENSP00000362486:R318H	ENSP00000241312:R2221H	R	-	2	0	CSMD2	33840610	0.246000	0.23909	0.678000	0.29963	0.858000	0.48976	0.231000	0.17872	-0.459000	0.07013	-0.143000	0.13931	CGC		TCGA-IB-7652-01A-11D-2154-08	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1	39	177	0	183	0	0	0	1	0	183	2		0	0	0	0	0	2	1	1.000000	38	174	0	182	2								-19.998740	1	1	121412	40	46	1	0	1	1	1.703950	1	0.360000	1.990000	0.219512	0.800000	0.590000	0.980000	0.810000	0.804804	0.800000	0	0.690000	0.910000
ZFYVE9	9372	broad.mit.edu	37	1	52740258	52740258	+	Splice_Site	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000287727.3_Splice_Site|ZFYVE9_ENST00000357206.2_Splice_Site	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9			53					TAAAAGGAGGTAAGTGGACTA	0.398000																								0							SO:0001630	splice_region_variant			ENST00000371591.1	1	1	hg19	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3915	0.55360	0.0:0.0:0.1407:0.8593	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE9	52512846	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	7.744000	0.85034	0.832000	0.34804	-0.313000	0.08912	.		TCGA-IB-7652-01A-11D-2154-08	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	1	84	400	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1.000000	82	399	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.087080	0	0.360000	1.990000	0.410898	0.990000	0.860000	1.000000	1.000000	0.984885	0.990000	1	0.960000	1.000000
HCK	3055	broad.mit.edu	37	20	30662501	30662501	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000520553.1	+	5	588	c.342C>T	c.(340-342)cgC>cgT	p.R114R	HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000534862.1_Silent_p.R115R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase			36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)	Bosutinib(DB06616)	ATGTCGCCCGCGTTGACTCTC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000520553.1	1	1	hg19	CCDS54455.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1	1	0	0	98	489	0	252	0	1	1	134	0	252	2		0	0	0	0	0	2	1	1.000000	98	483	0	249	2								-20.000000	1	1	0	0		1	1	2	3	2.016887	0	0.360000	1.990000	0.362296	0.920000	0.760000	1.000000	1.000000	0.923653	0.920000	1	0.840000	1.000000
CCT8L2	150160	broad.mit.edu	37	22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		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)			CGGGCGAGGCAGGCCAGCCTT	0.642000																								0							SO:0001583	missense			ENST00000359963.3	1	1	hg19	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	.	0.000000	0.29073	U	0.013223	D	0.86969	0.6061	M	0.80982	2.52	0.34168	D	0.669424	D	0.89917	1.0	D	0.83275	0.996	D	0.87908	0.2695	10	0.87932	D	0	-12.4381	5.9541	0.19263	1.0:0.0:0.0:0.0	.	127	Q96SF2	TCPQM_HUMAN	Q	127	ENSP00000353048:L127Q	ENSP00000353048:L127Q	L	-	2	0	CCT8L2	15453061	1.000000	0.71417	0.739000	0.30968	0.152000	0.21847	3.227000	0.51262	0.930000	0.37217	0.324000	0.21423	CTG		TCGA-IB-7652-01A-11D-2154-08	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	1	0	1	39	161	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1.000000	38	158	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.060051	0	0.360000	1.990000	0.370203	0.990000	0.810000	1.000000	1.000000	0.980160	0.990000	1	0.950000	1.000000
CECR2	27443	broad.mit.edu	37	22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			TCGACCAGCCGTCCTGTAGCC	0.448000																								0							SO:0001583	missense			ENST00000262608.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	8	.	.	.	.	2.4034	0.04407	0.5132:0.1197:0.1998:0.1673	.	387;359	Q9BXF3;Q9BXF3-2	CECR2_HUMAN;.	H	317;346	ENSP00000341219:R317H;ENSP00000262608:R346H	.	R	+	2	0	CECR2	16383349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.710000	0.00387	-2.277000	0.00677	-2.302000	0.00260	CGT		TCGA-IB-7652-01A-11D-2154-08	CECR2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	7	42	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	0.983355	7	42	0	26	2								-6.863299	1	1	120998	4	26	1	1	2	3	2.060051	0	0.360000	1.990000	0.370203	0.850000	0.390000	1.000000	1.000000	0.814269	0.850000	1	0.590000	1.000000
APOL5	80831	broad.mit.edu	37	22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5			19					GGGGAGACAGGCCCCGGGAAG	0.612000																								0							SO:0001583	missense			ENST00000249044.2	0	1	hg19	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.42155	-0.9468	9	0.87932	D	0	.	2.8292	0.05495	0.5743:0.0:0.4257:0.0	.	427	Q9BWW9	APOL5_HUMAN	T	427	ENSP00000249044:A427T	ENSP00000249044:A427T	A	+	1	0	APOL5	34454868	0.002000	0.14202	0.057000	0.19452	0.873000	0.50193	1.096000	0.30976	0.380000	0.24823	0.430000	0.28490	GCC		TCGA-IB-7652-01A-11D-2154-08	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	0	0	0	7	293	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	0.979500	7	287	0	98	2								-7.534923	1	0	0	0		1	1	2	3	2.060051	0	0.360000	1.990000	0.370203	0.140000	0.050000	1.000000	0.130000	0.210612	0.140000	0	0.090000	0.220000
LRP1B	53353	broad.mit.edu	37	2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		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)			TTAGTGTAGTTCTTAGGGAGC	0.458000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782993	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97598	-4.45;-4.45	5.64	1.83	0.25207	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.92691	3.335	0.46725	D	0.999171	P;D	0.89917	0.771;1.0	P;D	0.87578	0.531;0.998	D	0.96886	0.9649	10	0.66056	D	0.02	.	6.582	0.22600	0.0:0.249:0.119:0.632	.	552;1369	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1369;1307;514	ENSP00000374135:R1369S;ENSP00000413239:R514S	ENSP00000374135:R1369S	R	-	3	2	LRP1B	141357918	0.999000	0.42202	0.982000	0.44146	0.896000	0.52359	0.411000	0.21115	0.125000	0.18397	0.533000	0.62120	AGA		TCGA-IB-7652-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	113	548	0	202	0	0	0	1	0	202	2		0	0	0	0	0	2	1	1.000000	113	546	0	200	2								-20.000000	1	1	0	0		1	1	2	3	2.356307	1	0.360000	1.990000	0.457627	0.990000	0.930000	1.000000	1.000000	0.996057	0.990000	1	0.990000	1.000000
SCN1A	6323	broad.mit.edu	37	2	166848439	166848439	+	Silent	SNP	G	G	A	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000303395.4	-	26	5345	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000423058.2_Silent_p.I1782I			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)	GGATGACCGCGATGTACATGT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000303395.4	1	1	hg19	CCDS54413.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	0	1	190	915	0	279		0	0	0	0	279	2		0	0	0	0	0	2	1	1.000000	174	843	0	337	2								-3.322969	1	1	121412	2	36	1	1	2	3	2.356307	1	0.360000	1.990000	0.457627	0.990000	0.980000	1.000000	1.000000	0.998902	0.990000	1	0.990000	1.000000
MYO3B	140469	broad.mit.edu	37	2	171375968	171375968	+	Missense_Mutation	SNP	C	C	T	rs56052422	by1000genomes	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:171375968C>T	ENST00000408978.4	+	30	3636	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	MYO3B_ENST00000334231.6_Missense_Mutation_p.R1174C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R1138C	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB			59					CTCTGTACATCGTAGGAGCCA	0.468000																								0							SO:0001583	missense			ENST00000408978.4	1	0	hg19	CCDS42773.1	32	0.014652014652014652	14	0.028455284552845527	3	0.008287292817679558	9	0.015734265734265736	6	0.0079155672823219	C	12.17	1.856140	0.32791	0.029718	0.004725	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000334231	T;T;T	0.78707	-1.2;-1.16;-1.16	3.82	3.82	0.43975	.	1.065760	0.07515	U	0.909616	T	0.37433	0.1003	N	0.08118	0	0.09310	N	1	P;P;P	0.49358	0.923;0.825;0.733	B;B;B	0.40101	0.319;0.121;0.083	T	0.49597	-0.8923	10	0.66056	D	0.02	.	11.3838	0.49773	0.0:1.0:0.0:0.0	rs56052422	1165;1138;1165	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	C	1138;1165;1164;1174	ENSP00000386497:R1138C;ENSP00000386213:R1165C;ENSP00000335100:R1174C	ENSP00000314213:R1164C	R	+	1	0	MYO3B	171084214	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.016000	0.13377	2.120000	0.65058	0.446000	0.29264	CGT		TCGA-IB-7652-01A-11D-2154-08	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	0	0	1	25	235	0	82	0	1.011061e-02	0	2	0	82	2		0	0	0	0	0	2	1	1.000000	25	233	0	81	2								-3.017737	1	1	120846	1766	62	1	1	2	3	2.356307	1	0.360000	1.990000	0.457627	0.630000	0.420000	0.880000	0.630000	0.647377	0.630000	0	0.520000	0.760000
HECW2	57520	broad.mit.edu	37	2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	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					ACTTACGTTCCATGAAATAGG	0.358000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	.	0.046101	0.85682	D	0.000000	T	0.31358	0.0794	L	0.54323	1.7	0.50171	D	0.99985	B	0.12013	0.005	B	0.15484	0.013	T	0.02533	-1.1145	10	0.37606	T	0.19	.	14.2555	0.66048	0.1491:0.8509:0.0:0.0	.	132	Q9P2P5	HECW2_HUMAN	I	132	ENSP00000260983:M132I	ENSP00000260983:M132I	M	-	3	0	HECW2	196916630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	ATG		TCGA-IB-7652-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	0	80	1028	0	346	0	2.714016e-01	0	14	0	346	2		0	0	0	0	0	2	1	1.000000	78	1020	0	340	2								-14.217010	1	1	0	0		1	0	0	0	1.973393	0	0.360000	1.990000	0.348269	0.390000	0.310000	0.480000	0.400000	0.397439	0.390000	0	0.340000	0.440000
ASB1	51665	broad.mit.edu	37	2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1			8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			ATGCAGCTTACGTCGGGGACC	0.597000																								0							SO:0001587	stop_gained			ENST00000264607.4	0	1	hg19	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	.	0.253973	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4737	0.38858	0.0:0.574:0.0:0.426	.	.	.	.	X	46	.	ENSP00000264607:Y46X	Y	+	3	2	ASB1	239007022	0.656000	0.27385	0.998000	0.56505	0.974000	0.67602	-0.326000	0.07965	0.037000	0.15575	-0.258000	0.10820	TAC		TCGA-IB-7652-01A-11D-2154-08	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	0	0	0	6	227	0	85	0	3.184728e-01	0	39	0	85	2		0	0	0	0	0	2	1	0.963155	6	222	0	84	2								-7.381409	1	1	0	0		1	1	2	3	2.316627	1	0.360000	1.990000	0.455967	0.180000	0.070000	0.380000	0.170000	0.201584	0.180000	0	0.110000	0.270000
KIAA1524	57650	broad.mit.edu	37	3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524			38					ACCAAGGACTCTTTCTCTTCC	0.418000																								0							SO:0001583	missense			ENST00000295746.8	1	1	hg19	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013192	0.93346	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55052	0.54;0.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74910	-0.3503	10	0.66056	D	0.02	-12.9123	19.4773	0.94994	0.0:1.0:0.0:0.0	.	868	Q8TCG1	CIP2A_HUMAN	Q	709;868	ENSP00000419487:E709Q;ENSP00000295746:E868Q	ENSP00000295746:E868Q	E	-	1	0	KIAA1524	109752802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.593000	0.87608	0.655000	0.94253	GAG		TCGA-IB-7652-01A-11D-2154-08	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	1	0	1	45	143	0	81	1	9.770954e-01	6	16	0	81	2		0	0	0	0	0	2	1	1.000000	45	142	0	79	2								-4.399536	1	1	0	0		1	0	0	0	1.994361	0	0.360000	1.990000	0.357688	0.990000	0.990000	1.000000	1.000000	0.998848	0.990000	1	0.990000	1.000000
DNAJC13	23317	broad.mit.edu	37	3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13			34					AACCTGAAAAGTTTTCTGAGA	0.323000																								0							SO:0001583	missense			ENST00000260818.6	1	1	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	Armadillo-type fold (1);	0.072208	0.56097	D	0.000039	T	0.27832	0.0685	M	0.72576	2.205	0.50467	D	0.999872	P	0.52577	0.954	P	0.47981	0.563	T	0.03829	-1.1000	10	0.46703	T	0.11	.	8.6112	0.33804	0.2823:0.0:0.7177:0.0	.	1187	O75165	DJC13_HUMAN	N	1187	ENSP00000260818:K1187N	ENSP00000260818:K1187N	K	+	3	2	DNAJC13	133692523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.013000	0.29937	1.166000	0.42689	0.591000	0.81541	AAG		TCGA-IB-7652-01A-11D-2154-08	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1	15	200	0	91	1	8.936727e-01	9	46	0	91	2		0	0	0	0	0	2	1	0.999881	15	199	0	90	2								-19.503150	1	1	0	0		1	1	2	3	2.033691	0	0.360000	1.990000	0.365709	0.400000	0.230000	1.000000	0.390000	0.432400	0.400000	0	0.300000	0.520000
A4GNT	51146	broad.mit.edu	37	3	137849964	137849964	+	Silent	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase			16					TGTGGCTCAGGAGGGCTTCCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000236709.3	1	1	hg19	CCDS3097.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	1	0	1	68	348	0	120	0	7.299940e-01	0	15	0	120	2		0	0	0	0	0	2	1	1.000000	68	345	0	118	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.033691	0	0.360000	1.990000	0.365709	0.910000	0.720000	1.000000	1.000000	0.911537	0.910000	1	0.810000	1.000000
MUC4	4585	broad.mit.edu	37	3	195517059	195517059	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000475231.1_Silent_p.R464R|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)		TCTCATGAGGCCGTCCTGTGG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000463781.3	0	1	hg19	CCDS54700.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	0	0	0	15	757	0	360		0	0	0	0	360	2		0	0	0	0	0	2	1	0.999863	15	751	0	357	2								-2.560979	1	1	0	0		1	0	1	1	1.665638	1	0.360000	1.990000	0.219512	0.080000	0.040000	0.140000	0.090000	0.093730	0.080000	0	0.060000	0.120000
FLNB	2317	broad.mit.edu	37	3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000295956.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta			120					CTACACAGTGGAGGCCTCGCT	0.567000																								0							SO:0001583	missense			ENST00000295956.4	1	1	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855482	0.91355	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.87	5.87	0.94306	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.136651	0.64402	D	0.000004	T	0.49660	0.1570	L	0.35723	1.085	0.80722	D	1	P;P;B;B;P;P	0.48640	0.913;0.893;0.415;0.121;0.774;0.774	P;P;B;B;B;B	0.52217	0.693;0.493;0.299;0.246;0.345;0.345	T	0.36480	-0.9746	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1033;1033;864;864;1033;1033	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1033;1033;1033;1033;1033;1033;864;864	ENSP00000295956:E1033K;ENSP00000420213:E1033K;ENSP00000351339:E1033K;ENSP00000415599:E1033K;ENSP00000232447:E1033K;ENSP00000349819:E1033K;ENSP00000418510:E864K;ENSP00000414532:E864K	ENSP00000295956:E1033K	E	+	1	0	FLNB	58082241	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.890000	0.87313	2.780000	0.95670	0.655000	0.94253	GAG		TCGA-IB-7652-01A-11D-2154-08	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	1	0	1	120	537	0	302	1	1	207	239	0	302	2		0	0	0	0	0	2	1	1.000000	118	535	0	294	2								-20.000000	1	1	0	0		1	0	0	0	1.994361	0	0.360000	1.990000	0.357688	0.990000	0.840000	1.000000	1.000000	0.973170	0.990000	1	0.920000	1.000000
FLNB	2317	broad.mit.edu	37	3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000295956.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta			120					ACGAGCCCTGTCTCCTGAAGA	0.602000																								0							SO:0001587	stop_gained			ENST00000295956.4	0	1	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3262	0.55011	0.0:0.4478:0.0:0.5522	.	.	.	.	X	1952;1983;1928;1941;1952;1952;1759;1772	.	ENSP00000295956:C1952X	C	+	3	2	FLNB	58109100	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	0.021000	0.13489	-0.232000	0.09811	0.533000	0.62120	TGT		TCGA-IB-7652-01A-11D-2154-08	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	1	0	0	11	123	0	51	1	9.999999e-01	19	447	0	51	2		0	0	0	0	0	2	1	0.998501	11	122	0	51	2								-16.723850	1	1	0	0		1	0	0	0	1.994361	0	0.360000	1.990000	0.357688	0.460000	0.240000	0.750000	0.450000	0.481896	0.460000	0	0.340000	0.610000
FAT4	79633	broad.mit.edu	37	4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					ACTTTTTTATCACAGTCACTG	0.398000																								0							SO:0001583	missense			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	Cadherin (4);Cadherin-like (1);	0.250386	0.20094	U	0.099377	T	0.36082	0.0954	L	0.34521	1.04	0.31081	N	0.711959	B;B;B	0.20459	0.006;0.045;0.016	B;B;B	0.23716	0.005;0.048;0.019	T	0.41251	-0.9519	10	0.72032	D	0.01	.	1.0954	0.01672	0.1406:0.3872:0.2043:0.2679	.	1355;3057;3057	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3057;1355	ENSP00000377862:I3057M;ENSP00000335169:I1355M	ENSP00000335169:I1355M	I	+	3	3	FAT4	126590792	0.985000	0.35326	0.990000	0.47175	0.286000	0.27126	0.286000	0.18902	1.340000	0.45581	0.655000	0.94253	ATC		TCGA-IB-7652-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	8	397	0	127	0	5.662453e-02	0	17	0	127	2		0	0	0	0	0	2	1	0.989422	8	396	0	127	2								-3.997423	1	1	0	0		1	1	2	3	2.006995	0	0.360000	1.990000	0.361150	0.110000	0.040000	0.210000	0.110000	0.122536	0.110000	0	0.070000	0.160000
PCDH10	57575	broad.mit.edu	37	4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					CGGCTACTTGTACGCCCTGCG	0.597000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001442	T	0.68026	0.2956	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.73020	-0.4114	10	0.87932	D	0	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	526;526	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	526	ENSP00000264360:Y526D	ENSP00000264360:Y526D	Y	+	1	0	PCDH10	134292321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	TAC		TCGA-IB-7652-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1	80	407	0	176	0	7.378839e-02	0	3	0	176	2		0	0	0	0	0	2	1	1.000000	79	404	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.006995	0	0.360000	1.990000	0.361150	0.910000	0.730000	1.000000	1.000000	0.908113	0.910000	1	0.820000	1.000000
GRSF1	2926	broad.mit.edu	37	4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A	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)		GCTTCTCCAGTGGCCTTCCCA	0.488000																								0							SO:0001583	missense			ENST00000254799.6	1	1	hg19	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665232	0.88251	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	6.07	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044997	0.85682	D	0.000000	T	0.26159	0.0638	M	0.72576	2.205	0.53005	D	0.999964	D;P	0.60160	0.987;0.581	D;P	0.70016	0.967;0.702	T	0.00660	-1.1622	10	0.62326	D	0.03	-9.2706	12.0784	0.53657	0.0:0.0668:0.0:0.9332	.	353;440	B7Z5F9;Q12849	.;GRSF1_HUMAN	A	440;278;372;413;278;322	ENSP00000254799:T440A;ENSP00000389219:T278A;ENSP00000427354:T413A;ENSP00000425430:T278A;ENSP00000443380:T322A	ENSP00000254799:T440A	T	-	1	0	GRSF1	71909952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	1.114000	0.41781	0.533000	0.62120	ACT		TCGA-IB-7652-01A-11D-2154-08	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	0	0	1	23	108	1	51	1	9.999837e-01	97	359	1	51	26		0	0	0	0	0	2	1	0.995220	23	107	1	50	10								-15.100990	1	1	0	0		1	1	2	3	2.006995	0	0.360000	1.990000	0.361150	0.970000	0.650000	1.000000	1.000000	0.922508	0.970000	1	0.800000	1.000000
PTPN13	5783	broad.mit.edu	37	4	87684337	87684337	+	Silent	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000411767.2	+	24	4074	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P			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)			ATCAAACACCAAAACAGGCAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000411767.2	1	1	hg19	CCDS47094.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1	94	465	0	221	0	9.950115e-01	0	42	0	221	2		0	0	0	0	0	2	1	1.000000	94	463	0	220	2								-20.000000	1	1	0	0		1	1	2	3	2.006995	0	0.360000	1.990000	0.361150	0.930000	0.760000	1.000000	1.000000	0.926182	0.930000	1	0.840000	1.000000
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	p.C506S(1)		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)			TGAGCATCTACATTTTTCATT	0.333000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000506729.1	1	1	hg19	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077737	0.55753	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.86264	0.5891	H	0.97440	4.005	0.50313	D	0.999866	P;D;D	0.89917	0.933;1.0;0.957	P;D;P	0.87578	0.479;0.998;0.688	D	0.90071	0.4163	10	0.56958	D	0.05	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	506;506;444;253;253	ENSP00000421339:C506Y;ENSP00000369135:C506Y;ENSP00000373671:C444Y;ENSP00000421990:C253Y;ENSP00000369138:C253Y	ENSP00000369135:C506Y	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT		TCGA-IB-7652-01A-11D-2154-08	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	1	0	1	32	159	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	0.999975	32	159	1	89	9								-18.282950	1	1	0	0		1	0	1	1	1.626977	1	0.360000	1.990000	0.219512	0.740000	0.530000	0.960000	0.750000	0.755245	0.740000	0	0.630000	0.870000
TERT	7015	broad.mit.edu	37	5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	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)	GGGCAGTGCCGGGTTGGCTGC	0.662000									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	1	1	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.66056	D	0.02	-17.5136	11.4366	0.50072	0.0:0.0:1.0:0.0	.	1058;1121	O14746-3;O14746	.;TERT_HUMAN	Q	1121;1058	ENSP00000309572:P1121Q;ENSP00000334346:P1058Q	ENSP00000309572:P1121Q	P	-	2	0	TERT	1306880	0.987000	0.35691	0.320000	0.25306	0.012000	0.07955	2.740000	0.47418	2.134000	0.65973	0.561000	0.74099	CCG		TCGA-IB-7652-01A-11D-2154-08	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	1	0	1	17	69	0	40		0	0	0	0	40	2	1	1	222	1124	1	1002	7	1	0.999982	17	69	0	39	2								-3.126970	1	1	0	0		1	0	0	0	1.992041	0	0.360000	1.990000	0.357688	0.990000	0.680000	1.000000	1.000000	0.954283	0.990000	1	0.870000	1.000000
FSTL4	23105	broad.mit.edu	37	5	132535363	132535363	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4			23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGCCGCCCAGGTGGGTGTGTG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000265342.7	1	1	hg19	CCDS34238.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	1	0	0	38	151	0	83	0	3.547850e-01	1	5	0	83	2		0	0	0	0	0	2	1	1.000000	38	146	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.990000	0.970000	1.000000	1.000000	0.997877	0.990000	1	0.990000	1.000000
EGR1	1958	broad.mit.edu	37	5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		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)		TTCTCCCAGGACAATTGAAAT	0.502000																								0							SO:0001583	missense			ENST00000239938.4	1	1	hg19	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58101	1.795	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.01375	-1.1371	10	0.87932	D	0	-6.6955	12.7025	0.57041	1.0:0.0:0.0:0.0	.	539	P18146	EGR1_HUMAN	A	196;539	ENSP00000239938:T539A	ENSP00000239938:T539A	T	+	1	0	EGR1	137831652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.536000	0.90627	1.781000	0.52344	0.533000	0.62120	ACA		TCGA-IB-7652-01A-11D-2154-08	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	1	0	1	80	510	0	183	1	1	430	1842	0	183	2		0	0	0	0	0	2	1	1.000000	80	501	0	182	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.880000	0.710000	1.000000	1.000000	0.888497	0.880000	1	0.790000	0.980000
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGGGAGCGCGCGCTGTCGAGC	0.662000																								0							SO:0001583	missense			ENST00000530339.1	1	1	hg19	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG		TCGA-IB-7652-01A-11D-2154-08	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	1	0	1	60	367	0	193	0	3.180636e-01	0	8	0	193	2		0	0	0	0	0	2	1	1.000000	59	360	0	190	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.910000	0.710000	1.000000	1.000000	0.911249	0.910000	1	0.810000	1.000000
PCDHA7	56141	broad.mit.edu	37	5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	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_Missense_Mutation_p.A456T|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)		CCCGGCGTTCGCGCAGCCCGA	0.677000													NSCLC(160;258 2013 5070 22440 28951)											0							SO:0001583	missense			ENST00000525929.1	1	1	hg19	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624705	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01359	4.98;4.98	4.0	-1.5	0.08691	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.00815	0.0027	N	0.05534	-0.03	0.09310	N	1	B;B	0.25105	0.118;0.091	B;B	0.30495	0.069;0.116	T	0.45775	-0.9238	10	0.44086	T	0.13	.	1.4843	0.02444	0.2051:0.1061:0.364:0.3248	.	456;456	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	456	ENSP00000436426:A456T;ENSP00000367365:A456T	ENSP00000367365:A456T	A	+	1	0	PCDHA7	140195518	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.809000	0.04510	-0.802000	0.04421	-2.305000	0.00258	GCG		TCGA-IB-7652-01A-11D-2154-08	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	1	85	490	0	220	0	6.028650e-02	0	3	0	220	2		0	0	0	0	0	2	1	1.000000	85	483	0	217	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.960000	0.780000	1.000000	1.000000	0.947086	0.960000	1	0.870000	1.000000
ARHGEF37	389337	broad.mit.edu	37	5	149001460	149001460	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					AGGAGGAGGCCGCCCGGCACA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000333677.6	1	1	hg19	CCDS43385.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	0	36	412	0	158	1	9.687245e-01	3	63	0	158	2		0	0	0	0	0	2	1	1.000000	36	408	0	157	2								-20.000000	1	1	121088	3	39	1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.520000	0.370000	0.700000	0.520000	0.537590	0.520000	0	0.440000	0.620000
FAT2	2196	broad.mit.edu	37	5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		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)		TGACCCCAGAGCTGTATCCGT	0.473000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.65080	0.2657	L	0.42008	1.315	0.47245	D	0.999369	D	0.89917	1.0	D	0.77557	0.99	T	0.57365	-0.7824	10	0.12103	T	0.63	.	13.0521	0.58960	0.0733:0.0:0.9267:0.0	.	2249	Q9NYQ8	FAT2_HUMAN	D	2249	ENSP00000261800:A2249D	ENSP00000261800:A2249D	A	-	2	0	FAT2	150904135	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.043000	0.71004	2.683000	0.91414	0.561000	0.74099	GCT		TCGA-IB-7652-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	104	554	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1.000000	104	548	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.990000	0.850000	1.000000	1.000000	0.979927	0.990000	1	0.940000	1.000000
SPARC	6678	broad.mit.edu	37	5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)			15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		TTGCAAGGCCCGATGTAGTCC	0.572000																								0							SO:0001583	missense			ENST00000231061.4	1	1	hg19	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075918	0.94000	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.87650	-2.28;-2.28;-2.28	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.093699	0.85682	D	0.000000	D	0.95252	0.8460	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95663	0.8717	10	0.87932	D	0	-29.1188	19.8471	0.96713	0.0:1.0:0.0:0.0	.	147	P09486	SPRC_HUMAN	R	147;56;56	ENSP00000231061:G147R;ENSP00000440127:G56R;ENSP00000428119:G56R	ENSP00000231061:G147R	G	-	1	0	SPARC	151029430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.311000	0.78958	2.688000	0.91661	0.655000	0.94253	GGG		TCGA-IB-7652-01A-11D-2154-08	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	1	0	0	27	246	0	108	0	1	0	7346	0	108	2		0	0	0	0	0	2	1	1.000000	26	243	0	106	2								-2.841674	1	1	121412	2	31	1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.650000	0.440000	0.900000	0.640000	0.664316	0.650000	0	0.540000	0.780000
ITK	3702	broad.mit.edu	37	5	156608099	156608099	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		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)	CCAAAGCCAGCCTGGCATACT	0.398000			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:0001819	synonymous_variant			ENST00000422843.3	1	1	hg19	CCDS4336.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	1	0	1	121	638	0	284	0	2.587768e-02	0	2	0	284	2		0	0	0	0	0	2	1	1.000000	121	635	0	276	2								-20.000000	1	1	0	0		1	1	2	3	2.393020	1	0.360000	1.990000	0.457627	0.990000	0.870000	1.000000	1.000000	0.984625	0.990000	1	0.950000	1.000000
FLT4	2324	broad.mit.edu	37	5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	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)	AGCATGCCCCGCCGGTCATCC	0.647000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611614	0.66558	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.05258	3.47;3.47;3.47	5.16	3.02	0.34903	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	M	0.65975	2.015	0.38025	D	0.934989	D;D;D;D	0.89917	0.999;1.0;0.989;0.989	P;D;P;P	0.65010	0.855;0.931;0.677;0.582	T	0.02138	-1.1207	9	0.56958	D	0.05	.	7.5225	0.27637	0.0:0.1296:0.4182:0.4522	.	189;189;189;189	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	189	ENSP00000261937:R189W;ENSP00000377016:R189W;ENSP00000426057:R189W	ENSP00000261937:R189W	R	-	1	2	FLT4	179989660	0.824000	0.29247	1.000000	0.80357	0.821000	0.46438	0.873000	0.28052	1.262000	0.44165	0.561000	0.74099	CGG		TCGA-IB-7652-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	39	314	0	185	0	7.796675e-01	0	25	0	185	2		0	0	0	0	0	2	1	1.000000	39	300	0	173	2								-3.017765	1	1	0	0		1	1	2	3	2.381313	1	0.360000	1.990000	0.457627	0.720000	0.520000	0.950000	0.720000	0.735591	0.720000	0	0.620000	0.840000
FOXO3	2309	broad.mit.edu	37	6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000343882.6	+	3	1428	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000406360.1_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	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)			ATGGCAGGCACCATGAATCTG	0.582000																								0							SO:0001583	missense			ENST00000343882.6	0	1	hg19	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488937	0.26686	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.89681	-2.55;-2.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.43923	1.385	0.80722	D	1	P	0.40660	0.726	B	0.39617	0.305	T	0.80350	-0.1419	10	0.07325	T	0.83	-33.6779	19.4179	0.94709	0.0:1.0:0.0:0.0	.	375	O43524	FOXO3_HUMAN	S	375;375;155;155	ENSP00000339527:T375S;ENSP00000385824:T375S	ENSP00000339527:T375S	T	+	2	0	FOXO3	109091853	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.412000	0.80091	2.595000	0.87683	0.462000	0.41574	ACC		TCGA-IB-7652-01A-11D-2154-08	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	0	0	0	6	232	0	103	0	8.784722e-01	0	148	0	103	2		0	0	0	0	0	2	1	0.962194	6	225	0	99	2								-7.589620	1	1	121412	1	26	1	0	0	0	1.993689	0	0.360000	1.990000	0.357688	0.140000	0.050000	0.280000	0.140000	0.160241	0.140000	0	0.090000	0.220000
PARK2	5071	broad.mit.edu	37	6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L	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)			GGCTGGAGTTGAACCTGACAA	0.498000																								0							SO:0001583	missense			ENST00000366898.1	1	1	hg19	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682026	0.68042	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96371	0.8816	M	0.61703	1.905	0.33160	D	0.546906	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95618	0.8678	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC		TCGA-IB-7652-01A-11D-2154-08	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	0	0	0	19	294	0	203	0	0	0	1	0	203	2		0	0	0	0	0	2	1	0.999991	18	293	0	203	2								-5.902384	1	1	0	0		1	0	0	0	1.950015	0	0.360000	1.990000	0.341021	0.320000	0.200000	0.490000	0.330000	0.340469	0.320000	0	0.260000	0.410000
TBP	6908	broad.mit.edu	37	6	170871100	170871100	+	Silent	SNP	G	G	A	rs139333134	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:170871100G>A	ENST00000392092.2	+	3	555	c.276G>A	c.(274-276)caG>caA	p.Q92Q	TBP_ENST00000230354.6_Silent_p.Q92Q|TBP_ENST00000540980.1_Silent_p.Q72Q	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)			agcagcagcagcagcaacagg	0.612000																								0							SO:0001819	synonymous_variant			ENST00000392092.2	1	0	hg19	CCDS5315.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	0	0	1	90	284	2	108	1	9.473800e-01	5	19	2	108	3		0	0	0	0	0	2	1	1.000000	27	263	0	87	2								-2.884778	1	0	0	0		1	0	0	0	1.950015	0	0.360000	1.990000	0.341021	0.990000	0.990000	1.000000	1.000000	0.999874	0.990000	1	0.990000	1.000000
E2F3	1871	broad.mit.edu	37	6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	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)		CGATGCTTACGATTTGGAAAA	0.468000																								0							SO:0001583	missense			ENST00000346618.3	1	1	hg19	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.470974	0.84533	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.10288	2.89;3.01	5.79	5.79	0.91817	.	0.046857	0.85682	D	0.000000	T	0.21841	0.0526	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.57911	0.829	T	0.00379	-1.1777	10	0.66056	D	0.02	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	452	O00716	E2F3_HUMAN	N	115;452;321	ENSP00000262904:D452N;ENSP00000443418:D321N	ENSP00000262904:D452N	D	+	1	0	E2F3	20598596	1.000000	0.71417	0.941000	0.38009	0.685000	0.39939	9.476000	0.97823	2.746000	0.94184	0.561000	0.74099	GAT		TCGA-IB-7652-01A-11D-2154-08	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1	1	0	1	155	732	0	278	1	9.974819e-01	16	28	0	278	2		0	0	0	0	0	2	1	1.000000	155	725	0	275	2								-20.000000	1	1	0	0		1	1	2	3	2.050700	0	0.360000	1.990000	0.367964	0.980000	0.840000	1.000000	1.000000	0.965245	0.980000	1	0.910000	1.000000
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	p.L249V(1)		31					GGTAGTTATTCTTTTCTATGC	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000383555.2	1	1	hg19	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00073	0.0002	L	0.37630	1.12	0.09310	N	1	B	0.33755	0.424	B	0.43916	0.436	T	0.07693	-1.0759	10	0.22109	T	0.4	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	I	249	ENSP00000373047:L249I	ENSP00000373047:L249I	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT		TCGA-IB-7652-01A-11D-2154-08	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2	1	0	1	160	757	0	321	0	0	0	1	0	321	2		0	0	0	0	0	2	1	1.000000	159	755	0	318	2								-20.000000	1	1	0	0		1	1	2	3	2.050700	0	0.360000	1.990000	0.367964	0.980000	0.840000	1.000000	1.000000	0.964822	0.980000	1	0.910000	1.000000
PRSS35	167681	broad.mit.edu	37	6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000369700.3	+	2	575	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	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)			AGGTTCAGCATCTTGGACAAA	0.458000																								0							SO:0001583	missense			ENST00000369700.3	1	1	hg19	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078192	0.76528	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72944	-0.4138	10	0.87932	D	0	-14.2535	16.0993	0.81158	0.0:0.0:0.0:1.0	.	133	Q8N3Z0	PRS35_HUMAN	T	133	ENSP00000440870:I133T;ENSP00000358714:I133T	ENSP00000358714:I133T	I	+	2	0	PRSS35	84290277	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.698000	0.84413	2.207000	0.71202	0.459000	0.35465	ATC		TCGA-IB-7652-01A-11D-2154-08	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	1	0	1	105	422	0	184	0	2.638746e-01	0	5	0	184	2		0	0	0	0	0	2	1	1.000000	105	419	0	180	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.993689	0	0.360000	1.990000	0.357688	0.990000	0.910000	1.000000	1.000000	0.993863	0.990000	1	0.990000	1.000000
FLNC	2318	broad.mit.edu	37	7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					GCACATACAGACCTGCCATGG	0.637000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522233	0.44866	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	4.9	4.01	0.46588	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.483889	0.21640	N	0.071355	T	0.51924	0.1703	L	0.48642	1.525	0.43164	D	0.994953	B;B	0.21225	0.053;0.039	B;B	0.29440	0.038;0.102	T	0.52578	-0.8557	10	0.48119	T	0.1	.	4.0045	0.09595	0.1951:0.0:0.6163:0.1886	.	441;441	Q14315-2;Q14315	.;FLNC_HUMAN	S	441	ENSP00000327145:R441S;ENSP00000344002:R441S	ENSP00000327145:R441S	R	+	3	2	FLNC	128266005	0.385000	0.25172	0.997000	0.53966	0.975000	0.68041	-0.139000	0.10358	1.257000	0.44085	-0.366000	0.07423	AGA		TCGA-IB-7652-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0	0	1	106	607	1	354	0	5.043645e-01	0	11	1	354	2		0	0	0	0	0	2	1	1.000000	104	602	1	343	9								-2.920951	1	1	0	0		1	2	2	4	2.116647	1	0.360000	1.990000	0.394856	0.880000	0.720000	1.000000	1.000000	0.890745	0.880000	1	0.800000	1.000000
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox			26	Melanoma(164;0.14)				AATCTCTCGGCGTTTATCACT	0.557000																								0							SO:0001583	missense			ENST00000467773.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		TCGA-IB-7652-01A-11D-2154-08	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	1	0	1	69	292	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1.000000	68	289	0	155	2								-20.000000	1	1	0	0		1	2	2	4	2.116647	1	0.360000	1.990000	0.394856	0.990000	0.900000	1.000000	1.000000	0.992807	0.990000	1	0.990000	1.000000
GTF2IRD2B	389524	broad.mit.edu	37	7	74563983	74563983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:74563983C>T	ENST00000312575.7	+	16	1905	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.S124F	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B			4					ttcgatgtgtccgaagaactt	0.443000																								0							SO:0001583	missense			ENST00000312575.7	1	0	hg19	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047024	0.08243	.	.	ENSG00000174428	ENST00000312575;ENST00000418185	T;T	0.22539	1.95;1.95	1.53	1.53	0.23141	Ribonuclease H-like (1);	.	.	.	.	T	0.18045	0.0433	L	0.43923	1.385	0.33876	D	0.635526	B;P	0.48911	0.021;0.917	B;P	0.46049	0.009;0.502	T	0.27191	-1.0081	9	0.22706	T	0.39	-4.1018	6.5351	0.22348	0.0:1.0:0.0:0.0	.	72;577	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	F	577;124	ENSP00000308080:S577F;ENSP00000411454:S124F	ENSP00000308080:S577F	S	+	2	0	GTF2IRD2B	74201919	0.018000	0.18449	0.895000	0.35142	0.475000	0.33008	1.774000	0.38573	1.164000	0.42652	0.430000	0.28490	TCC		TCGA-IB-7652-01A-11D-2154-08	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	1	0	0	32	158	0	60	1	7.459707e-01	3	12	0	60	2		0	0	0	0	0	2	1	1.000000	30	148	0	145	2								-18.427890	1	1	0	0		1	2	2	4	2.116647	1	0.360000	1.990000	0.394856	0.990000	0.710000	1.000000	1.000000	0.945569	0.990000	1	0.850000	1.000000
DLGAP2	9228	broad.mit.edu	37	8	1497384	1497384	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		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)			GCAACGCCAACGGCACCAAGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000421627.2	1	1	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63377	-0.6651	4	.	.	.	-13.2071	15.0453	0.71822	0.0:0.285:0.0:0.715	.	.	.	.	M	192	.	.	T	+	2	0	DLGAP2	1484791	0.085000	0.21516	0.019000	0.16419	0.196000	0.23810	-0.644000	0.05415	-0.909000	0.03852	-0.783000	0.03347	ACG		TCGA-IB-7652-01A-11D-2154-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	18	53	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.999993	18	53	0	16	2								-20.000000	1	1	120940	13	38	1	0	1	1	1.681487	1	0.360000	1.990000	0.219512	0.890000	0.640000	1.000000	0.990000	0.879063	0.890000	1	0.770000	0.970000
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	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-7652-01A-11D-2154-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	0	17	367	0	161	0	6.632273e-03	0	3	0	161	2		0	0	0	0	0	2	1	0.999964	17	363	0	158	2								-3.157053	1	1	0	0		1	0	0	0	1.982820	0	0.360000	1.990000	0.355359	0.240000	0.140000	0.370000	0.240000	0.255990	0.240000	0	0.190000	0.310000
OR13F1	138805	broad.mit.edu	37	9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1			31					AGTTAATCATGCTGGTGATCA	0.433000																								0							SO:0001583	missense			ENST00000334726.2	1	1	hg19	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.091249	0.47093	N	0.000241	T	0.00073	0.0002	N	0.05608	-0.01	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06391	-1.0829	10	0.30078	T	0.28	.	5.7443	0.18112	0.3867:0.0:0.6133:0.0	.	199	Q8NGS4	O13F1_HUMAN	I	199	ENSP00000334452:M199I	ENSP00000334452:M199I	M	+	3	0	OR13F1	106306961	0.006000	0.16342	0.148000	0.22405	0.993000	0.82548	0.163000	0.16520	0.572000	0.29383	0.650000	0.86243	ATG		TCGA-IB-7652-01A-11D-2154-08	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	0	0	0	80	1122	0	365		0	0	0	0	365	2		0	0	0	0	0	2	1	1.000000	80	1118	0	364	2								-12.923450	1	1	0	0		1	0	1	1	2.002675	0	0.360000	1.990000	0.358846	0.360000	0.290000	0.450000	0.370000	0.372527	0.360000	0	0.320000	0.410000
SVEP1	79987	broad.mit.edu	37	9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N|SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					ATGTTACTTCCTTCATGAAGC	0.552000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927013	0.34002	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.285646	0.43919	D	0.000511	T	0.44808	0.1311	L	0.31526	0.94	0.80722	D	1	P	0.40578	0.722	B	0.39617	0.305	T	0.29912	-0.9996	10	0.30854	T	0.27	.	5.6066	0.17383	0.0:0.6236:0.0:0.3764	.	2911	Q4LDE5	SVEP1_HUMAN	N	2911;2888;837	ENSP00000384917:K2911N;ENSP00000363593:K2888N;ENSP00000297826:K837N	ENSP00000297826:K837N	K	-	3	2	SVEP1	112208968	0.920000	0.31207	1.000000	0.80357	0.876000	0.50452	-0.039000	0.12124	1.303000	0.44873	0.591000	0.81541	AAG		TCGA-IB-7652-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	92	654	0	216	0	9.874727e-01	0	50	0	216	2		0	0	0	0	0	2	1	1.000000	91	647	0	214	2								-2.966611	1	1	0	0		1	1	2	3	2.368430	1	0.360000	1.990000	0.457627	0.800000	0.650000	0.960000	0.810000	0.813369	0.800000	0	0.720000	0.890000
DAB2IP	153090	broad.mit.edu	37	9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein			27					CCCGCCTGAGGCAGCAGTCCT	0.652000																								0							SO:0001583	missense			ENST00000408936.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397162	0.25205	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.7	3.73	0.42828	.	0.237534	0.39759	N	0.001274	T	0.17534	0.0421	L	0.53561	1.675	0.46954	D	0.999269	B;P	0.35033	0.271;0.481	B;B	0.42738	0.079;0.396	T	0.03852	-1.0998	10	0.13108	T	0.6	.	13.3473	0.60582	0.0:0.1591:0.8409:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	S	940;968;877;844	ENSP00000259371:R940S;ENSP00000386183:R968S;ENSP00000362887:R877S;ENSP00000310827:R844S	ENSP00000259371:R940S	R	+	3	2	DAB2IP	123575532	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.058000	0.30504	2.169000	0.68431	0.313000	0.20887	AGG		TCGA-IB-7652-01A-11D-2154-08	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	1	0	0	10	61	0	38	1	9.999612e-01	32	106	0	38	2		0	0	0	0	0	2	1	0.997189	10	59	0	38	2								-18.550380	1	1	0	0		1	1	2	3	2.409872	1	0.360000	1.990000	0.457627	0.940000	0.500000	1.000000	1.000000	0.877559	0.940000	1	0.690000	1.000000
PTGS1	5742	broad.mit.edu	37	9	125140773	125140773	+	Silent	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	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)	CCCACTTCCTGCTCACTCACG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000362012.2	1	1	hg19	CCDS6842.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1	1	0	0	117	584	0	324	0	9.999994e-01	1	100	0	324	2		0	0	0	0	0	2	1	1.000000	117	577	0	314	2								-20.000000	1	1	0	0		1	1	2	3	2.409872	1	0.360000	1.990000	0.457627	0.990000	0.910000	1.000000	1.000000	0.993602	0.990000	1	0.990000	1.000000
OR1K1	392392	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1			17					GGGGCACTCCGAGCCCTTCTC	0.582000																								0							SO:0001583	missense			ENST00000277309.2	1	1	hg19	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	.	0.252216	0.20517	N	0.090769	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.16867	-1.0388	10	0.23891	T	0.37	.	8.1058	0.30885	0.2689:0.0:0.7311:0.0	.	303	Q8NGR3	OR1K1_HUMAN	Q	303	ENSP00000277309:R303Q	ENSP00000277309:R303Q	R	+	2	0	OR1K1	124603130	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.119000	0.15626	0.171000	0.19730	-0.244000	0.11960	CGA		TCGA-IB-7652-01A-11D-2154-08	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1	1	0	0	110	227	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1.000000	108	223	0	144	2								-20.000000	1	1	121382	2	33	1	1	2	3	2.409872	1	0.360000	1.990000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PRDM12	59335	broad.mit.edu	37	9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12			11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)			CTGTACGGCCGCTGGCGCAAC	0.677000																								0							SO:0001583	missense			ENST00000253008.2	0	1	hg19	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905725	0.52333	.	.	ENSG00000130711	ENST00000253008	T	0.09723	2.95	4.48	3.51	0.40186	.	0.054397	0.64402	D	0.000002	T	0.06645	0.0170	L	0.29908	0.895	0.44079	D	0.996835	P	0.48640	0.913	B	0.36766	0.232	T	0.44190	-0.9344	10	0.16420	T	0.52	-16.2368	11.8827	0.52583	0.0:0.0:0.8247:0.1752	.	40	Q9H4Q4	PRD12_HUMAN	H	40	ENSP00000253008:R40H	ENSP00000253008:R40H	R	+	2	0	PRDM12	132529980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.872000	0.75536	2.026000	0.59711	0.462000	0.41574	CGC		TCGA-IB-7652-01A-11D-2154-08	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	0	0	0	3	62	0	31		0	0	0	0	31	2	0	0	0	1	0	0	2	1	0.802560	2	61	0	31	2								-6.927076	1	0	0	0		1	1	2	3	2.414666	1	0.360000	1.990000	0.457627	0.340000	0.100000	0.780000	0.300000	0.383772	0.340000	0	0.190000	0.560000
DDX31	64794	broad.mit.edu	37	9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31			27					GTGTGCTTTCCTCTTCTTTCT	0.532000																								0							SO:0001583	missense			ENST00000372159.3	1	1	hg19	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719394	0.30503	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03717	4.33;3.83;4.29	5.84	-2.42	0.06542	.	0.976044	0.08418	N	0.948855	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	B;B	0.20671	0.047;0.04	B;B	0.15484	0.013;0.008	T	0.34601	-0.9822	10	0.34782	T	0.22	-5.4579	8.5087	0.33204	0.0:0.2988:0.1156:0.5855	.	691;764	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	764;691;635	ENSP00000361232:R764T;ENSP00000361226:R691T;ENSP00000387730:R635T	ENSP00000361226:R691T	R	-	2	0	DDX31	134477313	0.449000	0.25689	0.028000	0.17463	0.076000	0.17211	-0.315000	0.08081	-0.512000	0.06505	-0.768000	0.03414	AGG		TCGA-IB-7652-01A-11D-2154-08	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	1	0	1	126	612	0	199	1	9.989779e-01	13	38	0	199	2		0	0	0	0	0	2	1	1.000000	126	608	0	198	2								-2.931160	1	1	0	0		1	1	2	3	2.414666	1	0.360000	1.990000	0.457627	0.990000	0.940000	1.000000	1.000000	0.996668	0.990000	1	0.990000	1.000000
ADAMTSL2	9719	broad.mit.edu	37	9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000354484.4	+	3	739	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R170H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2			14					GCGTGTTCCCGCAGTTGCGGG	0.672000																								0							SO:0001583	missense			ENST00000354484.4	1	1	hg19	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156452	0.94686	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.52983	0.64;0.64;0.64	4.84	4.84	0.62591	.	0.000000	0.56097	U	0.000031	T	0.74496	0.3724	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	10	0.87932	D	0	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	61	Q86TH1	ATL2_HUMAN	H	61;170;61	ENSP00000346478:R61H;ENSP00000376781:R170H;ENSP00000376780:R61H	ENSP00000346478:R61H	R	+	2	0	ADAMTSL2	135392439	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.401000	0.97294	2.229000	0.72834	0.491000	0.48974	CGC		TCGA-IB-7652-01A-11D-2154-08	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	1	0	1	51	245	0	143	0	9.997805e-01	1	62	0	143	2		0	0	0	0	0	2	1	1.000000	48	242	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.338965	1	0.360000	1.990000	0.457627	0.990000	0.860000	1.000000	1.000000	0.988490	0.990000	1	0.990000	1.000000
KCNT1	57582	broad.mit.edu	37	9	138675926	138675926	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000263604.3	+	25	2841	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A	KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000490355.2_Silent_p.A945A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1			50		Myeloproliferative disorder(178;0.0821)			CGTTCGCCGCCGGCCGCGTCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000263604.3	1	1	hg19																																																																																					TCGA-IB-7652-01A-11D-2154-08	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	41	353	0	222		0	0	0	0	222	2		0	0	0	0	0	2	1	1.000000	39	342	0	203	2								-2.879461	1	1	121396	11	40	1	1	2	3	2.338965	1	0.360000	1.990000	0.457627	0.680000	0.500000	0.890000	0.690000	0.693090	0.680000	0	0.580000	0.790000
TCEAL5	340543	broad.mit.edu	37	X	102529240	102529240	+	Silent	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5			11					CCTCACTTTGTGGCTTGTCCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000372680.1	1	1	hg19	CCDS35356.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	1	0	1	148	796	0	332	0	4.253071e-01	0	9	0	332	2		0	0	0	0	0	2	1	1.000000	142	654	0	259	2								-20.000000	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.860000	0.740000	1.000000	0.870000	0.872519	0.860000	1	0.800000	0.940000
IGSF1	3547	broad.mit.edu	37	X	130409231	130409231	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000361420.3	-	17	3293	c.3214C>G	c.(3214-3216)Cag>Gag	p.Q1072E	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	p.Q1072*(1)		78					GGACCAGGCTGGGCTAATAGG	0.542000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000361420.3	1	1	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474766	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.751183	0.12360	N	0.475750	T	0.03651	0.0104	L	0.38953	1.18	0.28842	N	0.89655	B;B;B	0.23650	0.082;0.089;0.079	B;B;B	0.25614	0.036;0.062;0.039	T	0.25293	-1.0136	10	0.29301	T	0.29	.	12.231	0.54488	0.0:0.0:1.0:0.0	.	1063;516;1072	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1063;1072;1063;1077	ENSP00000359947:Q1063E;ENSP00000355010:Q1072E;ENSP00000359941:Q1063E;ENSP00000359940:Q1077E	ENSP00000355010:Q1072E	Q	-	1	0	IGSF1	130236912	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.912000	0.39946	2.376000	0.81061	0.594000	0.82650	CAG		TCGA-IB-7652-01A-11D-2154-08	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1	163	949	0	326	0	2.754233e-01	0	7	0	326	2		0	0	0	0	0	2	1	1.000000	162	940	0	322	2								-3.221884	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.800000	0.690000	0.930000	0.820000	0.816533	0.800000	0	0.750000	0.870000
IDS	3423	broad.mit.edu	37	X	148579704	148579704	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000422081.2_Silent_p.T3T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase			20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)				GACTGGCTGACGTTTTCATCT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000340855.6	1	1	hg19	CCDS14685.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3	0	0	0	24	651	0	209	0	1	0	835	0	209	2		0	0	0	0	0	2	1	1.000000	23	640	0	198	2								-3.193399	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.190000	0.120000	0.280000	0.200000	0.204598	0.190000	0	0.150000	0.240000
MTM1	4534	broad.mit.edu	37	X	149826497	149826497	+	Silent	SNP	A	A	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1			26	Acute lymphoblastic leukemia(192;6.56e-05)				ATAAATTTGCATCTGTGAGTA	0.318000																								0							SO:0001819	synonymous_variant			ENST00000370396.2	1	1	hg19	CCDS14694.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	1	0	1	50	270	0	76	1	9.999199e-01	27	51	0	76	2		0	0	0	0	0	2	1	1.000000	50	270	0	74	2								-20.000000	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.860000	0.660000	1.000000	1.000000	0.866615	0.860000	1	0.750000	0.980000
ASB9	140462	broad.mit.edu	37	X	15266898	15266898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000380488.4	-	6	1001	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000546332.1_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9			15	Hepatocellular(33;0.183)				GGCCAAGGGGCTCTCTGGAGG	0.557000																								0							SO:0001583	missense			ENST00000380488.4	1	1	hg19	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.967	0.548435	0.13312	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	0.99;-0.17;-0.12;-0.17	5.78	1.15	0.20763	.	0.332697	0.42682	N	0.000673	T	0.47967	0.1474	L	0.39467	1.215	0.09310	N	1	B;B;B;B	0.24576	0.035;0.003;0.051;0.106	B;B;B;B	0.28139	0.019;0.005;0.086;0.063	T	0.35649	-0.9780	10	0.40728	T	0.16	-4.9969	6.2251	0.20703	0.0:0.6104:0.1283:0.2613	.	214;233;243;243	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	N	233;243;243;243	ENSP00000369850:S233N;ENSP00000369852:S243N;ENSP00000369855:S243N;ENSP00000438943:S243N	ENSP00000369850:S233N	S	-	2	0	ASB9	15176819	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.883000	0.28200	-0.105000	0.12132	-0.191000	0.12829	AGC		TCGA-IB-7652-01A-11D-2154-08	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	1	80	421	0	163	0	9.980183e-01	1	50	0	163	2		0	0	0	0	0	2	1	1.000000	79	419	0	159	2								-20.000000	1	0	121412	6	35	1	0	1	1			0.360000	1.990000	0.360000	0.880000	0.710000	1.000000	1.000000	0.885739	0.880000	1	0.790000	0.980000
ASB9	140462	broad.mit.edu	37	X	15266926	15266926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000380488.4	-	6	973	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000546332.1_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9			15	Hepatocellular(33;0.183)				TCCACAGGACGTTTGCCTTCA	0.557000																								0							SO:0001583	missense			ENST00000380488.4	1	1	hg19	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580533	0.28180	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.273432	0.42420	N	0.000717	T	0.41328	0.1154	L	0.54965	1.715	0.49483	D	0.999798	B;B;B;B	0.29188	0.236;0.05;0.03;0.157	B;B;B;B	0.29598	0.104;0.019;0.012;0.026	T	0.29941	-0.9995	10	0.62326	D	0.03	-10.1573	7.8005	0.29172	0.1464:0.0:0.7222:0.1313	.	205;224;234;234	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	224;234;234;234	ENSP00000369850:R224C;ENSP00000369852:R234C;ENSP00000369855:R234C;ENSP00000438943:R234C	ENSP00000369850:R224C	R	-	1	0	ASB9	15176847	0.993000	0.37304	0.143000	0.22291	0.565000	0.35776	1.270000	0.33086	0.638000	0.30545	-0.208000	0.12717	CGT		TCGA-IB-7652-01A-11D-2154-08	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	1	78	395	0	168	1	9.991435e-01	4	51	0	168	2		0	0	0	0	0	2	1	1.000000	73	393	0	164	2								-20.000000	1	0	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.910000	0.730000	1.000000	1.000000	0.909305	0.910000	1	0.820000	1.000000
FLNA	2316	broad.mit.edu	37	X	153577233	153577233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000369850.3	-	48	8164	c.7928G>A	c.(7927-7929)cGc>cAc	p.R2643H	FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|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)				CACCACAACGCGGTAGGGGCT	0.687000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570226	0.28003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	3.7	0.42460	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062457	0.64402	D	0.000011	T	0.61022	0.2314	N	0.03948	-0.315	0.35918	D	0.831602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.53809	-0.8386	10	0.17832	T	0.49	.	2.1844	0.03882	0.0:0.3694:0.3076:0.323	.	776;2635;2643;2643	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	H	2635;2311;2635;2643;776;2603	ENSP00000353467:R2635H;ENSP00000416926:R2635H;ENSP00000358866:R2643H;ENSP00000358872:R776H;ENSP00000358863:R2603H	ENSP00000358863:R2603H	R	-	2	0	FLNA	153230427	0.644000	0.27277	0.766000	0.31476	0.858000	0.48976	1.084000	0.30828	1.172000	0.42781	0.529000	0.55759	CGC		TCGA-IB-7652-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	0	0	0	12	388	0	218	0	9.999954e-01	1	822	0	218	2		0	0	0	0	0	2	1	0.999064	12	382	0	216	2								-3.386818	1	1	120942	3	31	1	0	1	1			0.360000	1.990000	0.360000	0.160000	0.080000	0.280000	0.160000	0.178844	0.160000	0	0.120000	0.230000
PPEF1	5475	broad.mit.edu	37	X	18845404	18845404	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S	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)				GCCTGATCTCCGTGGAAGAAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000361511.4	1	1	hg19	CCDS14188.1																																																																																				TCGA-IB-7652-01A-11D-2154-08	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	1	0	1	108	442	0	184	0	3.913671e-02	0	2	0	184	2		0	0	0	0	0	2	1	1.000000	109	437	0	184	2								-2.887929	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.990000	0.900000	1.000000	1.000000	0.992583	0.990000	1	0.990000	1.000000
CXorf21	80231	broad.mit.edu	37	X	30578132	30578132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21			20					GCAAGAAGATGGAACCAAGTA	0.443000																								0							SO:0001583	missense			ENST00000378962.3	1	1	hg19	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.75221	0.3820	M	0.66939	2.045	0.52501	D	0.999955	D	0.89917	1.0	D	0.81914	0.995	T	0.76934	-0.2775	9	0.54805	T	0.06	-14.154	12.9145	0.58199	0.0824:0.0:0.9176:0.0	.	114	Q9HAI6	CX021_HUMAN	Q	114	.	ENSP00000368245:P114Q	P	-	2	0	CXorf21	30488053	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.264000	0.78432	2.279000	0.76181	0.422000	0.28245	CCA		TCGA-IB-7652-01A-11D-2154-08	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	1	0	1	155	714	0	291	0	9.511243e-01	0	25	0	291	2		0	0	0	0	0	2	1	1.000000	155	710	0	288	2								-2.691029	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.980000	0.840000	1.000000	1.000000	0.967438	0.980000	1	0.910000	1.000000
DMD	1756	broad.mit.edu	37	X	31198512	31198512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F	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)			CACCATGGGATAGTGCATTTT	0.418000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417414	0.83449	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.03	3.8	0.43715	Zinc finger, ZZ-type (1);	0.000000	0.32372	U	0.006187	D	0.92590	0.7646	M	0.83953	2.67	0.58432	D	0.999999	B;D;D;B;D;D;D;D;D;D;D;D;D;D;P;D	0.89917	0.002;0.957;0.997;0.06;0.997;0.997;0.995;0.996;0.996;0.999;0.999;1.0;0.974;0.985;0.743;0.997	B;P;D;B;D;D;D;D;D;D;D;D;D;P;P;D	0.80764	0.003;0.754;0.97;0.018;0.97;0.97;0.962;0.917;0.917;0.986;0.994;0.986;0.969;0.871;0.493;0.97	D	0.92983	0.6408	10	0.87932	D	0	.	10.1983	0.43067	0.1502:0.0:0.0:0.8498	.	286;3346;3354;3350;2013;2010;894;894;894;894;894;3231;286;286;286;286	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	F	3346;2013;2010;286;1050;3350;3354;894;894;3354;3231;894;894;286;894;286;286;144	ENSP00000367997:Y286F;ENSP00000350765:Y1050F;ENSP00000367948:Y3350F;ENSP00000354923:Y3354F;ENSP00000352894:Y894F;ENSP00000340057:Y894F;ENSP00000367979:Y894F;ENSP00000444119:Y894F;ENSP00000367974:Y286F;ENSP00000417123:Y894F;ENSP00000354464:Y286F;ENSP00000367951:Y286F;ENSP00000367977:Y144F	ENSP00000340057:Y894F	Y	-	2	0	DMD	31108433	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.825000	0.86693	1.868000	0.54150	0.441000	0.28932	TAT		TCGA-IB-7652-01A-11D-2154-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	0	16	410	0	119	0	5.798785e-01	0	50	0	119	2		0	0	0	0	0	2	1	0.999930	16	406	0	117	2								-16.057510	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.210000	0.120000	0.320000	0.210000	0.219730	0.210000	0	0.160000	0.270000
CXorf22	170063	broad.mit.edu	37	X	35989882	35989882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22			44					GAGTCTGTGAGAAGAAAGGCA	0.368000																								0							SO:0001583	missense			ENST00000297866.5	1	1	hg19	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	.	1.479880	0.03603	N	0.233690	T	0.05547	0.0146	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.06365	T	0.9	-14.1458	12.5433	0.56184	0.7855:0.1024:0.1122:0.0	.	717	Q6ZTR5	CX022_HUMAN	K	717	ENSP00000297866:R717K	ENSP00000297866:R717K	R	+	2	0	CXorf22	35899803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.217000	0.02979	-1.390000	0.02087	-0.190000	0.12839	AGA		TCGA-IB-7652-01A-11D-2154-08	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	0	1	70	332	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1.000000	69	330	0	139	2								-20.000000	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.960000	0.760000	1.000000	1.000000	0.942435	0.960000	1	0.860000	1.000000
HEPH	9843	broad.mit.edu	37	X	65409671	65409671	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000343002.2	+	5	1618	c.954C>T	c.(952-954)caC>caT	p.H318H	HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000374727.3_Silent_p.H321H			Q9BQS7	HEPH_HUMAN	hephaestin			89					CCCGTGGACACCACACTGATG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000343002.2	0	1	hg19																																																																																					TCGA-IB-7652-01A-11D-2154-08	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	0	0	0	45	189	0	56	1	9.996183e-01	4	49	0	56	2		0	0	0	0	0	2	1	1.000000	45	185	0	56	2								-20.000000	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.990000	0.800000	1.000000	1.000000	0.973951	0.990000	1	0.920000	1.000000
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					ACTCTCCCAGCGGCTGTTGAT	0.343000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001583	missense			ENST00000373094.1	1	1	hg19	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	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	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		TCGA-IB-7652-01A-11D-2154-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	1	0	1	68	423	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1.000000	65	402	0	144	2								-20.000000	1	1	0	0		1	0	1	1			0.360000	1.990000	0.360000	0.760000	0.600000	0.940000	0.760000	0.774502	0.760000	0	0.680000	0.860000
