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
SMAD4	4089	broad.mit.edu	37	18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			ACTT	-	ACTT	ACTT		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000342988.3	+	12	2121_2124	c.1583_1586delACTT	c.(1582-1587)cacttafs	p.HL528fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.L529fs*7(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			ATTGAAATTCACTTACACCGGGCC	0.495000																								39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)						SO:0001589	frameshift_variant			ENST00000342988.3	1	1	hg19	CCDS11950.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	142	346	0	64	1	9.999932e-01	14	31	0	64	2	1	1	176	300	0	1119	2	1	1.000000	166	356	1	64	25	0	0	0	0	0	0		-9.475697	1	1	0	0		1	0	1	1	1.494535	1	0.740000	1.770000	0.587302	4.900000e-01	4.200000e-01	0.560000	0.490000	0.496197	4.900000e-01	0	4.500000e-01	0.530000
SCN7A	6332	broad.mit.edu	37	2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gtafs	p.V377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit			44				Valproic Acid(DB00313)	ACAAAAAACTTACCACCACAAA	0.347000																								0							SO:0001589	frameshift_variant			ENST00000409855.1	0	1	hg19	CCDS46442.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	0	38	143	0	16	0	4.632929e-02	0	2	0	16	2			0	0	0	0		1	1.000000	38	142	0	16	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.252328	0	0.740000	1.770000	0.743792	5.700000e-01	4.200000e-01	1.000000	0.570000	0.595394	5.700000e-01	0	4.900000e-01	0.680000
MECOM	2122	broad.mit.edu	37	3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			TTATTAT	-	TTATTAT	TTATTAT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					GTATTCTTTCTTATTATTTATTGAAGC	0.348000																								0							SO:0001589	frameshift_variant			ENST00000464456.1	1	1	hg19	CCDS54669.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	0	87	289	0	54	0	9.999962e-01	1	62	0	54	2			0	0	0	0		1	1.000000	131	327	3	57	42	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.954591	1	0.740000	1.770000	0.700046	5.300000e-01	4.400000e-01	0.640000	0.540000	0.544772	5.300000e-01	0	4.800000e-01	0.590000
RREB1	6239	broad.mit.edu	37	6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000349384.6	+	10	2552	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000379938.2_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			AGCTGGTGGACGCCTTCTGCG	0.662000																								0							SO:0001589	frameshift_variant			ENST00000349384.6	1	1	hg19	CCDS34336.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	0	123	259	0	110	1	9.902697e-01	8	10	0	110	2			0	0	0	0		1	1.000000	122	255	0	105	2	0	0	0	0	0	0		-11.307400	1	1	0	0		1	0	1	1	1.499983	1	0.740000	1.770000	0.592093	5.400000e-01	4.700000e-01	0.630000	0.550000	0.555287	5.400000e-01	0	5.000000e-01	0.590000
TACC2	10579	broad.mit.edu	37	10	123843041	123843041	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000515273.1_Silent_p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			CATATCTGCCGCACGCAGAGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000369005.1	0	1	hg19	CCDS7626.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	0	5	491	0	108	0	4.439473e-03	0	8	0	108	2	0	0	0	1	0	0	2	1	0.936497	5	487	0	107	2		0	0	0	0	108	2	-3.107977	1	1	121382	6	39	1	2	2	4	2.343436	1	0.740000	1.770000	0.757914	2.000000e-02	0	1.000000	0.030000	0.112198	2.000000e-02	0	1.000000e-02	0.060000
PCDH15	65217	broad.mit.edu	37	10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000320301.6	-	14	2123	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000373965.2_Missense_Mutation_p.R584W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			GCGTAAGTCCGCCCGACTATC	0.483000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.460000	1.945863	0.343770	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.830000	2.870000	0.334580	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76751	0.4031	M	0.88979	2.995	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;1.0;1.0;0.997;1.0;1.0;0.994;0.997;0.987;0.997;0.999	D;P;P;P;D;D;D;P;D;D;P;P;P;P;P	0.67725	0.932;0.901;0.901;0.849;0.932;0.932;0.932;0.883;0.953;0.953;0.832;0.832;0.742;0.893;0.901	T	0.66689	-0.5860	9	0.87932	D	0	.	10.5008	0.44804	0.0:0.1241:0.4926:0.3833	.	555;577;577;582;577;540;577;577;584;584;577;582;577;555;577	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	W	584;582;577;577;188;584;577;540;577;555;555;577;577;582;577;577	ENSP00000363076:R584W;ENSP00000410304:R582W;ENSP00000378826:R577W;ENSP00000386693:R188W;ENSP00000378832:R584W;ENSP00000378833:R577W;ENSP00000378820:R540W;ENSP00000354950:R577W;ENSP00000378821:R555W;ENSP00000363068:R555W;ENSP00000322604:R577W;ENSP00000378818:R577W;ENSP00000412628:R577W;ENSP00000363066:R577W	ENSP00000322604:R577W	R	-	1	2	PCDH15	55582921	1.900000e-02	0.185530	6.000000e-03	0.133840	0.053000	0.150950	1.942000	0.402430	0.331000	0.235110	0.650000	0.862430	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	149	227	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	148	226	0	39	2		0	0	0	0	39	2	-19.870380	1	1	0	0		1	2	2	4	2.343436	1	0.740000	1.770000	0.757914	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999562	9.900000e-01	1	9.900000e-01	1.000000
P4HA1	5033	broad.mit.edu	37	10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000307116.2	-	5	531	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000412021.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I			15	Prostate(51;0.0198)			Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398000													Colon(147;367 2405 2662 52127)											0							SO:0001583	missense			ENST00000307116.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.900000	4.873543	0.916640	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52526	0.68;0.68;0.68;0.68;0.68;0.66	5.610000	5.610000	0.854770	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84676	0.0714	10	0.87932	D	0	-29.5049	19.6379	0.95744	0.0:1.0:0.0:0.0	.	139;139;139	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	139	ENSP00000307318:D139Y;ENSP00000362099:D139Y;ENSP00000411688:D139Y;ENSP00000378353:D139Y;ENSP00000263556:D139Y;ENSP00000414464:D139Y	ENSP00000263556:D139Y	D	-	1	0	P4HA1	74498658	1	0.714170	1	0.803570	0.991000	0.796840	7.374000	0.796330	2.657000	0.903040	0.655000	0.942530	GAT		TCGA-IB-A5SP-01A-11D-A32N-08	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	1	0	1	253	393	0	110	1	9.999999e-01	19	22	0	110	2		0	0	0	0	0	2	1	1.000000	246	388	0	109	2		0	0	0	0	110	2	-20.000000	1	1	0	0		1	2	2	4	2.343436	1	0.740000	1.770000	0.757914	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999891	9.900000e-01	1	9.900000e-01	1.000000
GATA3	2625	broad.mit.edu	37	10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000346208.3	+	3	1145	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000379328.3_Missense_Mutation_p.S230R|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3			87					CCGAGTACAGCTCCGGACTCT	0.697000			F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)								Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0							SO:0001583	missense			ENST00000346208.3	1	1	hg19	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	15.480000	2.846693	0.511640	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96459	-4.02;-4.0	5.550000	5.550000	0.834470	.	0.098818	0.64402	D	0.000001	D	0.94647	0.8274	L	0.50333	1.59	0.42485	D	0.99287	P;B	0.43826	0.818;0.317	B;B	0.39299	0.296;0.124	D	0.94291	0.7528	10	0.39692	T	0.17	-19.3456	19.5043	0.95108	0.0:1.0:0.0:0.0	.	230;230	P23771;P23771-2	GATA3_HUMAN;.	R	230	ENSP00000368632:S230R;ENSP00000341619:S230R	ENSP00000341619:S230R	S	+	3	2	GATA3	8140722	1	0.714170	1	0.803570	0.986000	0.746190	3.873000	0.560930	2.607000	0.881790	0.561000	0.740990	AGC		TCGA-IB-A5SP-01A-11D-A32N-08	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	0	0	1	86	369	1	106	0	9.554913e-02	0	3	1	106	2		0	0	0	0	0	2	1	1.000000	85	361	2	105	21		0	0	0	1	106	2	-20.000000	1	0	0	0		1	2	2	4	2.306636	0	0.740000	1.770000	0.754532	5.400000e-01	4.400000e-01	1.000000	0.540000	0.573890	5.400000e-01	0	4.800000e-01	0.610000
MRGPRX2	117194	broad.mit.edu	37	11	19077764	19077764	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2			15					CAGAGAAGGCGTTCCTGCGCA	0.557000													GBM(198;1966 2199 4849 37227 49954)											0							SO:0001819	synonymous_variant			ENST00000329773.2	1	1	hg19	CCDS7847.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	1	0	1	89	570	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1.000000	88	562	0	91	2		0	0	0	0	93	2	-20.000000	1	1	0	0		1	1	2	3	2.284513	0	0.740000	1.770000	0.745647	3.700000e-01	3.000000e-01	1.000000	0.370000	0.405274	3.700000e-01	0	3.300000e-01	0.420000
C11orf82	0	broad.mit.edu	37	11	82645017	82645017	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN				33					ATATGCTTGGATTCCAAGGCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000533655.1	1	1	hg19	CCDS8263.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1	1	0	1	40	298	0	63	0	1.485251e-02	0	2	0	63	2		0	0	0	0	0	2	1	1.000000	39	295	0	61	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	2	2	4	2.330246	0	0.740000	1.770000	0.756235	3.400000e-01	2.400000e-01	1.000000	0.340000	0.394753	3.400000e-01	0	2.900000e-01	0.420000
TRPV4	59341	broad.mit.edu	37	12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4			35					TCCTGGCGCCGCATGTCCGCC	0.612000																								0							SO:0001583	missense			ENST00000418703.2	0	1	hg19	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	19.050000	3.751278	0.695330	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	4.370000	2.430000	0.297440	Ankyrin repeat-containing domain (3);	0.055968	0.64402	D	0.000001	T	0.79370	0.4434	L	0.59967	1.855	0.33765	D	0.622362	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;P;D;P;P	0.76575	0.988;0.899;0.985;0.827;0.863	D	0.84213	0.0457	10	0.66056	D	0.02	-17.2861	12.0415	0.53456	0.0:0.0:0.6756:0.3244	.	315;315;268;268;281	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	315;315;268;315;268;315;268;281	ENSP00000406191:R315W;ENSP00000261740:R315W;ENSP00000376480:R268W;ENSP00000319003:R315W;ENSP00000443611:R268W;ENSP00000442738:R315W;ENSP00000442167:R268W;ENSP00000444336:R281W	ENSP00000261740:R315W	R	-	1	2	TRPV4	108721011	1	0.714170	1	0.803570	0.817000	0.461930	4.154000	0.581250	0.525000	0.285220	0.655000	0.942530	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	0	5	444	0	135	0	1.019960e-02	0	11	0	135	2		0	0	0	0	0	2	1	0.936015	5	439	0	134	2		0	0	0	0	135	2	-2.394291	0	1	0	0		1	0	1	1	2.113057	1	0.740000	1.770000	0.723639	2.000000e-02	0	0.070000	0.030000	0.033265	2.000000e-02	0	1.000000e-02	0.050000
SDSL	113675	broad.mit.edu	37	12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like			15					GCTGAGGACCCCACCAGGTGC	0.682000																								0							SO:0001583	missense			ENST00000403593.4	0	1	hg19	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	C	10.620000	1.401157	0.252910	.	.	ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635	D;D;D	0.96554	-4.05;-4.05;-4.05	4.490000	4.490000	0.547850	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.187421	0.42682	D	0.000666	D	0.93255	0.7851	L	0.56280	1.765	0.31826	N	0.625354	B	0.17852	0.024	B	0.14023	0.01	D	0.88786	0.3274	10	0.12430	T	0.62	-12.8961	12.3743	0.55271	0.2143:0.7856:0.0:0.0	.	165	Q96GA7	SDSL_HUMAN	S	165;107;165	ENSP00000385790:P165S;ENSP00000448868:P107S;ENSP00000341117:P165S	ENSP00000341117:P165S	P	+	1	0	SDSL	112357566	9.930000e-01	0.373040	9.980000e-01	0.565050	0.402000	0.308110	3.344000	0.521740	2.209000	0.713650	0.462000	0.415740	CCA		TCGA-IB-A5SP-01A-11D-A32N-08	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	0	0	0	9	89	0	19	0	8.938730e-01	1	41	0	19	2		0	0	0	0	0	2	1	0.994945	9	89	0	19	2		0	0	0	0	19	2	-14.831980	1	1	0	0		1	0	1	1	2.113057	1	0.740000	1.770000	0.723639	2.400000e-01	1.100000e-01	0.410000	0.240000	0.253290	2.400000e-01	0	1.700000e-01	0.330000
PITPNM2	57605	broad.mit.edu	37	12	123472784	123472784	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000542749.1	-	18	3057	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	PITPNM2_ENST00000280562.5_Silent_p.L992L|PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCCTCACCCGCAGCTTCACGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000542749.1	0	1	hg19	CCDS9242.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	0	9	665	0	224	0	2.403573e-04	0	2	0	224	2		0	0	0	0	0	2	1	0.993895	9	656	0	225	2		0	0	0	0	224	2	-6.636570	1	1	0	0		1	0	1	1	2.113057	1	0.740000	1.770000	0.723639	3.000000e-02	0	0.070000	0.040000	0.037872	3.000000e-02	0	1.000000e-02	0.050000
CCDC92	80212	broad.mit.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	T	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92			7	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CATCGTAACTCGAGAAATGTG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000238156.3	1	1	hg19	CCDS9256.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	1	0	1	107	206	0	87	1	9.999879e-01	13	23	0	87	2		0	0	0	0	0	2	1	1.000000	106	203	0	87	2		0	0	0	0	87	2	-11.809940	1	1	121412	4	36	1	0	1	1	2.113057	1	0.740000	1.770000	0.723639	8.600000e-01	7.300000e-01	1.000000	0.870000	0.869868	8.600000e-01	1	7.900000e-01	0.940000
GOLGA3	2802	broad.mit.edu	37	12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000450791.2	-	12	2747	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S			Q08378	GOGA3_HUMAN	golgin A3			64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			GTCGCGCCGGTAGGCCTCCAC	0.637000																								0							SO:0001583	missense			ENST00000450791.2	0	1	hg19	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	25.400000	4.636969	0.877600	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.37058	1.68;1.68;1.69;1.22;1.22	5.420000	5.420000	0.788660	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57957	-0.7721	10	0.29301	T	0.29	.	15.4572	0.75325	0.0:0.0:0.0:1.0	.	855;855;855	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	855	ENSP00000204726:Y855S;ENSP00000410378:Y855S;ENSP00000409303:Y855S;ENSP00000442143:Y855S;ENSP00000442603:Y855S	ENSP00000204726:Y855S	Y	-	2	0	GOLGA3	131875933	1	0.714170	9.960000e-01	0.522420	0.734000	0.419520	7.959000	0.878850	2.064000	0.616790	0.460000	0.390300	TAC		TCGA-IB-A5SP-01A-11D-A32N-08	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	0	0	0	8	213	0	75	1	4.312760e-01	3	34	0	75	2		0	0	0	0	0	2	1	0.989161	8	210	0	73	2		0	0	0	0	75	2	-13.468770	1	1	0	0		1	0	1	1	2.113057	1	0.740000	1.770000	0.723639	9.000000e-02	4.000000e-02	0.170000	0.090000	0.102436	9.000000e-02	0	6.000000e-02	0.130000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1	0.714170	1	0.803570	0.998000	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-IB-A5SP-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	49	35	0	18	1	9.989910e-01	11	1	0	18	2	1	1	105	109	0	1201	2	1	1.000000	49	34	0	18	2	1	1	5403	2618	0	18	2	-20.000000	1	1	121404	2	44	1	0	1	1	1.532613	1	0.740000	1.770000	0.592093	9.400000e-01	7.900000e-01	1.000000	1.000000	0.937091	9.400000e-01	1	8.700000e-01	1.000000
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000347598.4	+	27	3284	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557000																								0							SO:0001583	missense			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	c	13.730000	2.322899	0.410960	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.860000	4.860000	0.630820	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	1.390000e-01	0.225630	9.950000e-01	0.509660	0.979000	0.700020	1.089000	0.308900	2.687000	0.915940	0.651000	0.884530	ACG		TCGA-IB-A5SP-01A-11D-A32N-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	62	65	0	54	0	4.826940e-01	0	3	0	54	2		0	0	0	0	0	2	1	1.000000	62	63	0	53	2		0	0	0	0	54	2	-16.057770	1	1	121066	3	33	1	0	1	1	1.531743	1	0.740000	1.770000	0.592093	8.300000e-01	6.800000e-01	0.970000	0.840000	0.835235	8.300000e-01	0	7.500000e-01	0.910000
TMEM117	84216	broad.mit.edu	37	12	44782362	44782362	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000536799.1_Silent_p.T380T|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117			23	Lung SC(27;0.192)				CCCACCTAACCTCGGAAAACT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000266534.3	1	1	hg19	CCDS8745.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	1	0	1	263	449	0	77	1	9.931152e-01	4	12	0	77	2		0	0	0	0	0	2	1	1.000000	260	436	0	75	2		0	0	0	0	77	2	-20.000000	1	1	121412	1	34	1	0	1	1	2.172560	0	0.740000	1.770000	0.736094	9.700000e-01	8.800000e-01	1.000000	1.000000	0.971541	9.700000e-01	1	9.300000e-01	1.000000
RASA3	22821	broad.mit.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3			47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)		TCCCCGAGGACGAAATCAGAT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000334062.7	1	1	hg19	CCDS32016.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	1	0	1	84	137	0	70	1	1	34	30	0	70	2		0	0	0	0	0	2	1	1.000000	81	133	0	69	2		0	0	0	0	70	2	-20.000000	1	1	121346	2	31	1	0	0	0	2.145043	0	0.740000	1.770000	0.736094	9.900000e-01	8.400000e-01	1.000000	1.000000	0.971726	9.900000e-01	1	9.200000e-01	1.000000
GPC5	2262	broad.mit.edu	37	13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5			69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)			TTGTTCTTTTGATCAGAGCAA	0.398000																								0							SO:0001583	missense			ENST00000377067.3	0	1	hg19	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	18.710000	3.682939	0.681570	.	.	ENSG00000179399	ENST00000377067	T	0.55234	0.53	5.880000	5.040000	0.676660	.	0.478094	0.24502	N	0.037975	T	0.64091	0.2567	M	0.72894	2.215	0.37269	D	0.907309	P	0.44877	0.845	P	0.52514	0.701	T	0.72221	-0.4356	10	0.72032	D	0.01	2.7075	12.1984	0.54311	0.0779:0.0:0.9221:0.0	.	361	P78333	GPC5_HUMAN	Y	361	ENSP00000366267:D361Y	ENSP00000366267:D361Y	D	+	1	0	GPC5	91178847	1	0.714170	9.860000e-01	0.454190	0.989000	0.773840	3.232000	0.513020	1.499000	0.486170	0.557000	0.710580	GAT		TCGA-IB-A5SP-01A-11D-A32N-08	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	0	0	0	5	509	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.936206	5	504	0	77	2		0	0	0	0	78	2	-2.834094	1	1	0	0		1	0	0	0	2.131965	0	0.740000	1.770000	0.736094	2.000000e-02	0	0.060000	0.020000	0.030160	2.000000e-02	0	1.000000e-02	0.040000
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000423312.2	+	12	3641	c.3641C>T	c.(3640-3642)cCg>cTg	p.P1214L	KIF26A_ENST00000315264.7_Missense_Mutation_p.P1075L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A			21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)		CCCCGGAAACCGAGGACTGCC	0.721000																								0							SO:0001583	missense			ENST00000423312.2	1	1	hg19	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	0.014000	-1.580981	0.008790	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76448	-1.02;-1.02	3.600000	0.264000	0.156070	.	.	.	.	.	T	0.68146	0.2969	M	0.64404	1.975	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.51601	-0.8685	9	0.21540	T	0.41	.	4.6768	0.12715	0.2952:0.5102:0.0:0.1946	.	1214	Q9ULI4	KI26A_HUMAN	L	1214;1075	ENSP00000388241:P1214L;ENSP00000325452:P1075L	ENSP00000325452:P1075L	P	+	2	0	KIF26A	103712519	2.000000e-03	0.142020	2.000000e-03	0.105220	0.106000	0.193360	0.517000	0.228320	0.199000	0.204270	-1.026000	0.024260	CCG		TCGA-IB-A5SP-01A-11D-A32N-08	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	1	0	1	54	102	0	63	0	1.226017e-01	0	2	0	63	2		0	0	0	0	0	2	1	1.000000	54	100	0	63	2		0	0	0	0	63	2	-20.000000	1	1	119696	2	34	1	0	0	0	2.008487	0	0.740000	1.770000	0.716961	8.500000e-01	6.700000e-01	1.000000	1.000000	0.858834	8.500000e-01	1	7.600000e-01	0.950000
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					GAGGCTGATGCGGTTGCCATC	0.602000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001583	missense			ENST00000554752.2	0	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.470000	1.947067	0.343770	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.060000	5.170000	0.711590	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1	0.714170	1	0.803570	0.716000	0.411820	3.617000	0.541810	1.577000	0.498040	-0.150000	0.136520	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0	0	0	5	651	1	147	0	2.882276e-04	0	3	1	147	2		0	0	0	0	0	2	0	0.010455	5	631	1	146	16		0	0	0	1	147	2	-2.163597	0	1	121412	8	42	1	0	0	0	2.008487	0	0.740000	1.770000	0.716961	1.000000e-02	0	0.050000	0.020000	0.022249	1.000000e-02	0	0	0.030000
PPIP5K1	9677	broad.mit.edu	37	15	43827457	43827457	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000396923.3	-	30	3838	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000420765.1_Silent_p.S1239S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1			1					GCACCTGTGGGGACTGATTTG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000396923.3	1	1	hg19	CCDS45252.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	1	0	1	240	390	0	152	1	9.999997e-01	16	23	0	152	2		0	0	0	0	0	2	1	1.000000	239	387	0	149	2		0	0	0	0	152	2	-20.000000	1	1	0	0		1	0	1	1	1.932441	1	0.740000	1.770000	0.692162	8.600000e-01	7.700000e-01	0.950000	0.870000	0.869822	8.600000e-01	1	8.200000e-01	0.910000
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	p.S1323Y(1)		99					GCTGCCAAGTCTCTCTCTGTA	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000561311.1	1	1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.450000	3.126628	0.567210	.	.	ENSG00000171914	ENST00000306829	T	0.14893	2.47	5.870000	5.870000	0.943060	.	0.094038	0.85682	D	0.000000	T	0.20820	0.0501	L	0.49126	1.545	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.04281	-1.0963	10	0.23302	T	0.38	-13.3132	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1323	Q9Y4G6	TLN2_HUMAN	F	1323	ENSP00000303476:S1323F	ENSP00000303476:S1323F	S	+	2	0	TLN2	60820203	1	0.714170	1	0.803570	0.999000	0.989320	6.002000	0.706930	2.941000	0.997820	0.655000	0.942530	TCT		TCGA-IB-A5SP-01A-11D-A32N-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1	67	215	0	43	1	5.264291e-01	2	5	0	43	2		0	0	0	0	0	2	1	1.000000	67	210	0	43	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	0	1	1	1.932441	1	0.740000	1.770000	0.692162	5.300000e-01	4.300000e-01	0.650000	0.540000	0.545703	5.300000e-01	0	4.800000e-01	0.600000
ERCC4	2072	broad.mit.edu	37	16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4			38					GCTCAACACGCAGCCGGCCGA	0.697000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0							SO:0001587	stop_gained	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000311895.7	0	1	hg19	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	37.000000	6.363938	0.975070	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	4.980000	4.980000	0.660770	.	0.436137	0.26696	N	0.022966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.2254	11.0818	0.48064	0.2766:0.7234:0.0:0.0	.	.	.	.	X	65;54;54	.	ENSP00000310520:Q65X	Q	+	1	0	ERCC4	13921716	9.760000e-01	0.341440	1	0.803570	0.937000	0.578000	3.363000	0.523210	2.741000	0.939830	0.655000	0.942530	CAG		TCGA-IB-A5SP-01A-11D-A32N-08	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1	37	40	0	20	0	4.718823e-01	0	3	0	20	2		0	0	0	0	0	2	1	1.000000	37	39	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	1	2	3	2.232676	0	0.740000	1.770000	0.741910	9.900000e-01	9.900000e-01	1.000000	1.000000	0.998863	9.900000e-01	1	9.900000e-01	1.000000
IL21R	50615	broad.mit.edu	37	16	27448836	27448836	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor			8					AGCTGAAGGACGAGGCCACCT	0.597000			T	BCL6	NHL										Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0							SO:0001819	synonymous_variant			ENST00000337929.3	0	1	hg19	CCDS10630.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	0	0	0	9	394	0	103	0	1.967485e-03	0	3	0	103	2		0	0	0	0	0	2	1	0.994142	10	390	0	103	2		0	0	0	0	103	2	-8.496587	1	1	121412	4	37	1	1	2	3	2.232676	0	0.740000	1.770000	0.741910	6.000000e-02	2.000000e-02	0.120000	0.060000	0.076311	6.000000e-02	0	3.000000e-02	0.090000
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1			15					CAGGGCAGCCGCACACTGGTC	0.572000																								0							SO:0001583	missense			ENST00000574733.1	0	1	hg19	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.320000	3.804190	0.706820	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.840000	3.850000	0.443700	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1	0.714170	1	0.803570	0.789000	0.446020	3.199000	0.510430	0.786000	0.337080	-0.309000	0.091370	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	0	0	0	5	387	0	74	0	6.939733e-01	0	177	0	74	2		0	0	0	0	0	2	1	0.936655	5	384	0	74	2		0	0	0	0	74	2	-2.906499	1	1	121412	2	33	1	1	2	3	2.232676	0	0.740000	1.770000	0.741910	3.000000e-02	0	0.090000	0.040000	0.050418	3.000000e-02	0	1.000000e-02	0.060000
RRAD	6236	broad.mit.edu	37	16	66956197	66956197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:66956197G>A	ENST00000299759.6	-	5	959	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y			P55042	RAD_HUMAN	Ras-related associated with diabetes			17		Ovarian(137;0.192)			ACATTGTGGTGCAATGCCGCT	0.602000																								0							SO:0001583	missense			ENST00000299759.6	0	1	hg19	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	21.400000	4.142870	0.778880	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.79653	-1.29;-1.29	5.930000	5.930000	0.959200	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	P	0.59546	0.859	D	0.88586	0.3140	10	0.72032	D	0.01	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	237	P55042	RAD_HUMAN	Y	237	ENSP00000388744:H237Y;ENSP00000299759:H237Y	ENSP00000299759:H237Y	H	-	1	0	RRAD	65513698	1	0.714170	9.980000e-01	0.565050	0.449000	0.322280	9.471000	0.976960	2.802000	0.963970	0.561000	0.740990	CAC		TCGA-IB-A5SP-01A-11D-A32N-08	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	0	0	0	5	412	0	108	0	9.666273e-03	0	10	0	108	2		0	0	0	0	0	2	1	0.935903	5	407	0	104	2		0	0	0	0	108	2	-4.749076	1	1	0	0		1	1	2	3	2.246134	0	0.740000	1.770000	0.743792	3.000000e-02	0	1.000000	0.040000	0.066394	3.000000e-02	0	1.000000e-02	0.060000
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CTCTTCCCGCGACCCCAGGTG	0.632000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	21.300000	4.131602	0.776620	.	.	ENSG00000091536	ENST00000205890	T	0.51325	0.71	5.100000	5.100000	0.692640	.	.	.	.	.	T	0.59756	0.2217	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61978	-0.6951	9	0.54805	T	0.06	.	18.1103	0.89533	0.0:0.0:1.0:0.0	.	482	Q9UKN7	MYO15_HUMAN	Q	482	ENSP00000205890:R482Q	ENSP00000205890:R482Q	R	+	2	0	MYO15A	17964284	1	0.714170	1	0.803570	0.976000	0.684990	7.973000	0.880320	2.374000	0.810150	0.561000	0.740990	CGA		TCGA-IB-A5SP-01A-11D-A32N-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	31	190	1	89		0	0	0	1	89	2		0	0	0	0	0	2	1	0.999850	30	187	1	88	10		0	0	0	1	89	2	-20.000000	1	1	0	0		1	0	1	1	1.503745	1	0.740000	1.770000	0.589711	2.300000e-01	1.600000e-01	0.320000	0.240000	0.244999	2.300000e-01	0	1.900000e-01	0.280000
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572000		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	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	GRCh37	CM920673	TP53	M	rs28934573	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	.	.	.	.	.	.	.	.	.	.	G	17.500000	3.404027	0.622880	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.620000	3.640000	0.417300	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1	0.714170	1	0.803570	0.995000	0.863560	2.346000	0.440270	1.295000	0.447240	0.462000	0.415740	TCC		TCGA-IB-A5SP-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	107	110	0	91	1	1	79	14	0	91	2	1	1	286	243	2	2958	3	1	1.000000	105	109	0	91	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	0	1	1	1.503745	1	0.740000	1.770000	0.589711	8.300000e-01	7.200000e-01	0.950000	0.840000	0.841610	8.300000e-01	0	7.700000e-01	0.900000
ONECUT2	9480	broad.mit.edu	37	18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2			15		Colorectal(73;0.234)			ACCCTCATGCGCGACGAGCGC	0.677000																								0							SO:0001583	missense			ENST00000491143.2	1	1	hg19	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	19.280000	3.796477	0.705670	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.370000	4.370000	0.524810	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.76574	2.34	0.53688	D	0.999979	D	0.71674	0.998	D	0.79108	0.992	T	0.80984	-0.1138	9	0.56958	D	0.05	-18.0298	15.663	0.77203	0.0:0.0:1.0:0.0	.	199	O95948	ONEC2_HUMAN	P	180;199	.	ENSP00000262095:R199P	R	+	2	0	ONECUT2	53254542	1	0.714170	1	0.803570	0.754000	0.428550	9.544000	0.980920	1.990000	0.581190	0.455000	0.322230	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3	1	0	0	44	43	0	40	1	9.998059e-01	17	1	0	40	2		0	0	0	0	0	2	1	1.000000	44	43	0	40	2		0	0	0	0	40	2	-20.000000	1	1	0	0		1	0	1	1	1.494535	1	0.740000	1.770000	0.587302	8.400000e-01	6.700000e-01	0.980000	0.850000	0.844473	8.400000e-01	0	7.500000e-01	0.930000
ZNF441	126068	broad.mit.edu	37	19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441			19					ATATAAATGTAAACAATGTGG	0.368000																								0							SO:0001583	missense			ENST00000357901.4	1	1	hg19	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	15.890000	2.966344	0.535070	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.08370	3.1;3.1	1.220000	0.166000	0.149990	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.12611	0.24	0.09310	N	0.999999	B	0.28291	0.206	B	0.34418	0.182	T	0.44174	-0.9345	9	0.25751	T	0.34	.	0.0939	0.00042	0.3319:0.241:0.1882:0.239	.	422	Q8N8Z8	ZN441_HUMAN	E	378;422;355	ENSP00000350576:K422E;ENSP00000403738:K355E	ENSP00000350576:K422E	K	+	1	0	ZNF441	11752903	0	0.058580	1.220000e-01	0.217670	0.980000	0.705560	-4.770000	0.001880	-0.007000	0.143450	0.254000	0.183690	AAA		TCGA-IB-A5SP-01A-11D-A32N-08	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	1	0	1	82	124	0	20	1	5.223269e-01	3	1	0	20	2		0	0	0	0	0	2	1	1.000000	82	122	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	9.900000e-01	8.800000e-01	1.000000	1.000000	0.986632	9.900000e-01	1	9.600000e-01	1.000000
MAN2B1	4125	broad.mit.edu	37	19	12763078	12763078	+	Silent	SNP	G	G	A	rs34853569	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:12763078G>A	ENST00000456935.2	-	16	1975	c.1935C>T	c.(1933-1935)aaC>aaT	p.N645N	MAN2B1_ENST00000221363.4_Silent_p.N644N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1			33					CTATACTGGCGTTGTACCTGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000456935.2	1	0	hg19	CCDS32919.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	G	0.018000	-1.477523	0.010350	0.036768	1.16E-4	ENSG00000104774	ENST00000433513	.	.	.	5.600000	-11.200000	0.001270	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.45439	D	0.998412	.	.	.	.	.	.	T	0.69343	-0.5170	4	.	.	.	-8.3103	13.3469	0.60578	0.2157:0.0:0.6193:0.165	rs34853569	.	.	.	C	181	.	.	R	-	1	0	MAN2B1	12624078	2.000000e-03	0.142020	8.100000e-02	0.204880	0.002000	0.026280	-1.569000	0.021420	-3.131000	0.002360	-1.105000	0.021060	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1	0	0	1	166	277	0	104	1	1	23	69	0	104	2		0	0	0	0	0	2	1	1.000000	163	270	0	100	2		0	0	0	0	104	2	-2.204850	0	1	121412	427	59	1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	9.900000e-01	8.700000e-01	1.000000	1.000000	0.974689	9.900000e-01	1	9.300000e-01	1.000000
MKNK2	2872	broad.mit.edu	37	19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000591601.1	-	11	1111	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000250896.3_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	p.A359V(2)		10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)			GACTTGGGCGGCACTCAGCCT	0.662000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000591601.1	0	1	hg19	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	21.400000	4.140434	0.777750	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.46063	0.88;0.88;0.88	3.940000	3.940000	0.455960	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117336	0.56097	D	0.000022	T	0.52933	0.1765	L	0.38531	1.155	0.80722	D	1	D;D;P;P	0.71674	0.988;0.998;0.939;0.868	D;D;P;P	0.71414	0.951;0.973;0.779;0.859	T	0.55848	-0.8076	10	0.52906	T	0.07	-6.964	15.1499	0.72689	0.0:0.0:1.0:0.0	.	164;359;359;261	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	359;359;228;299	ENSP00000309485:A359V;ENSP00000250896:A359V;ENSP00000438904:A228V	ENSP00000250896:A359V	A	-	2	0	MKNK2	1992073	1	0.714170	5.400000e-01	0.280890	0.417000	0.312640	9.343000	0.970470	2.046000	0.607030	0.555000	0.697020	GCC		TCGA-IB-A5SP-01A-11D-A32N-08	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	0	0	0	5	535	1	169	0	4.522639e-02	0	387	1	169	10		0	0	0	0	0	2	0	0.043705	5	528	1	168	13		0	0	0	1	169	2	-2.739844	1	1	0	0		1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	2.000000e-02	0	0.060000	0.020000	0.028665	2.000000e-02	0	0	0.040000
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4			20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		GTCGGAGACCGCATTGGTGCA	0.632000																								0							SO:0001583	missense			ENST00000291823.2	0	1	hg19	CCDS12555.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.004000	-2.287071	0.002480	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.66099	-0.19	4.840000	-4.350000	0.036560	.	1.367440	0.05006	N	0.470122	T	0.31136	0.0787	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	7.7812	0.29066	0.217:0.3469:0.4361:0.0	.	449	Q8NE63	HIPK4_HUMAN	V	449;414	ENSP00000291823:A449V	ENSP00000291823:A449V	A	-	2	0	HIPK4	45578392	0	0.058580	1.200000e-02	0.152000	0.008000	0.064300	-0.930000	0.039720	-0.596000	0.058210	-0.598000	0.041060	GCG		TCGA-IB-A5SP-01A-11D-A32N-08	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	0	0	0	6	839	1	236		0	0	0	1	236	2		0	0	0	0	0	2	0	0.051844	6	824	1	233	14		0	0	0	1	236	2	-2.123610	0	1	121410	1	37	1	1	2	3	2.221285	0	0.740000	1.770000	0.741910	1.000000e-02	0	0.050000	0.020000	0.031990	1.000000e-02	0	0	0.030000
SHANK1	50944	broad.mit.edu	37	19	51219616	51219616	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:51219616G>A	ENST00000293441.1	-	2	393	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SHANK1_ENST00000391814.1_Silent_p.S125S|SHANK1_ENST00000359082.3_Silent_p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			CATCGCGGCCGGAGGTGGCCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000293441.1	0	1	hg19	CCDS12799.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	0	0	0	5	478	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	0.936816	5	475	0	107	2		0	0	0	0	108	2	-4.433140	1	1	0	0		1	1	2	3	2.221285	0	0.740000	1.770000	0.741910	2.000000e-02	0	0.070000	0.030000	0.042377	2.000000e-02	0	1.000000e-02	0.050000
MUC16	94025	broad.mit.edu	37	19	9011412	9011412	+	Missense_Mutation	SNP	C	C	T	rs114676657	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9011412C>T	ENST00000397910.4	-	36	39024	c.38821G>A	c.(38821-38823)Gag>Aag	p.E12941K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TACAGCTGCTCTCTGTTGAGT	0.572000																								0							SO:0001583	missense			ENST00000397910.4	1	0	hg19	CCDS54212.1	24	0.01098901098901099	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	20	0.026385224274406333	.	12.850000	2.061979	0.363730	0.010194	0.026633	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.63255	-0.03	2.760000	2.760000	0.324660	.	.	.	.	.	T	0.54854	0.1884	M	0.79258	2.445	.	.	.	D	0.71674	0.998	D	0.80764	0.994	T	0.76903	-0.2787	8	0.87932	D	0	-19.752	9.6026	0.39615	0.0:1.0:0.0:0.0	.	12941	B5ME49	.	K	12941;94	ENSP00000381008:E12941K	ENSP00000381008:E12941K	E	-	1	0	MUC16	8872412	1.000000e-03	0.127200	2.500000e-02	0.171560	0.022000	0.105750	0.101000	0.152510	1.474000	0.481780	0.305000	0.200340	GAG		TCGA-IB-A5SP-01A-11D-A32N-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1	337	670	0	207		0	0	0	0	207	2		0	0	0	0	0	2	1	1.000000	331	657	0	207	2		0	0	0	0	207	2	-1.349145	0	1	120900	2715	71	1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	8.800000e-01	8.000000e-01	0.970000	0.890000	0.891598	8.800000e-01	1	8.400000e-01	0.930000
MUC16	94025	broad.mit.edu	37	19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TGGTCACTGCCATGCTTGAAG	0.468000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.031000	-0.199690	0.062190	.	.	ENSG00000181143	ENST00000397910	T	0.20200	2.09	2.600000	-5.210000	0.028150	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	8	0.87932	D	0	.	1.7767	0.03023	0.1437:0.3395:0.3098:0.2071	.	10102	B5ME49	.	I	10102	ENSP00000381008:M10102I	ENSP00000381008:M10102I	M	-	3	0	MUC16	8918140	0	0.058580	0	0.037020	0.013000	0.082790	-3.069000	0.006190	-1.862000	0.011510	-1.436000	0.010780	ATG		TCGA-IB-A5SP-01A-11D-A32N-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	127	268	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	126	267	0	65	2		0	0	0	0	66	2	-11.413900	1	1	0	0		1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	8.500000e-01	7.300000e-01	0.970000	0.860000	0.857421	8.500000e-01	1	7.800000e-01	0.920000
MUC16	94025	broad.mit.edu	37	19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TAGGTGGGTTGTGCCCTGGCT	0.577000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.239000	-0.155665	0.065440	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.680000	-0.919000	0.104780	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15870	0.014	T	0.46247	-0.9205	8	0.87932	D	0	.	2.1688	0.03844	0.2075:0.0:0.4212:0.3713	.	623	B5ME49	.	K	623	ENSP00000381008:T623K	ENSP00000381008:T623K	T	-	2	0	MUC16	8950947	0	0.058580	0	0.037020	0.046000	0.143060	-0.135000	0.104200	-0.188000	0.104990	0.205000	0.176910	ACA		TCGA-IB-A5SP-01A-11D-A32N-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	130	257	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	128	254	0	76	2		0	0	0	0	76	2	-20.000000	1	1	121378	14	43	1	0	0	0	2.149781	0	0.740000	1.770000	0.736094	8.800000e-01	7.600000e-01	1.000000	1.000000	0.894340	8.800000e-01	1	8.200000e-01	0.960000
KCNA3	3738	broad.mit.edu	37	1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3			38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Dalfampridine(DB06637)	CGCTGGAAGTCGCGGCGGGGC	0.682000																								0							SO:0001583	missense			ENST00000369769.2	1	1	hg19	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	16.640000	3.180330	0.578000	.	.	ENSG00000177272	ENST00000369769	D	0.96830	-4.14	4.800000	3.870000	0.446320	.	0.844686	0.10366	U	0.683427	D	0.89332	0.6685	L	0.28192	0.835	0.41461	D	0.988045	P	0.34699	0.464	B	0.28849	0.095	D	0.85442	0.1155	10	0.87932	D	0	.	14.8698	0.70448	0.0:0.8552:0.1448:0.0	.	215	P22001	KCNA3_HUMAN	N	215	ENSP00000358784:D215N	ENSP00000358784:D215N	D	-	1	0	KCNA3	111018312	1	0.714170	9.970000e-01	0.539660	0.998000	0.957120	4.873000	0.630570	0.986000	0.386830	0.561000	0.740990	GAC		TCGA-IB-A5SP-01A-11D-A32N-08	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	0	0	0	15	541	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	0.999676	14	475	0	112	2		0	0	0	0	138	2	-12.714770	1	1	0	0		1	0	1	1	2.013778	1	0.740000	1.770000	0.703839	6.000000e-02	3.000000e-02	0.100000	0.070000	0.068001	6.000000e-02	0	4.000000e-02	0.090000
PRDM2	7799	broad.mit.edu	37	1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		TACCATCACCGTAACCCCATG	0.443000																								0							SO:0001583	missense			ENST00000235372.7	0	1	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.900000	3.502016	0.642980	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.170000	5.270000	0.740610	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1	0.714170	9.990000e-01	0.593770	0.823000	0.465620	6.781000	0.750680	1.635000	0.505120	0.655000	0.942530	CGT		TCGA-IB-A5SP-01A-11D-A32N-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	0	0	7	776	1	156	0	1.907308e-02	0	20	1	156	2		0	0	0	0	0	2	0	0.027969	6	764	1	156	17		0	0	0	1	156	2	-2.101181	0	1	121412	2	36	1	0	1	1	2.024600	1	0.740000	1.770000	0.708749	1.000000e-02	0	0.050000	0.020000	0.023370	1.000000e-02	0	0	0.030000
RGL1	23179	broad.mit.edu	37	1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000360851.3	+	16	2136	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000304685.4_Missense_Mutation_p.R688H|RGL1_ENST00000536277.1_Missense_Mutation_p.R651H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1			51					TGCATAATCCGCATCAGTGTG	0.498000																								0							SO:0001583	missense			ENST00000360851.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35.000000	5.454279	0.962230	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.430000	5.430000	0.792020	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.64567	-0.6377	10	0.87932	D	0	.	18.8583	0.92262	0.0:0.0:1.0:0.0	.	624;651;653;688	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	688;688;651;653;624	ENSP00000303192:R688H;ENSP00000356501:R688H;ENSP00000438662:R651H;ENSP00000354097:R653H;ENSP00000437355:R624H	ENSP00000303192:R688H	R	+	2	0	RGL1	182152412	1	0.714170	1	0.803570	0.990000	0.784780	9.401000	0.972940	2.555000	0.861850	0.650000	0.862430	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	0	0	0	5	383	0	85	0	1.335087e-02	0	11	0	85	2		0	0	0	0	0	2	1	0.934902	5	376	0	84	2		0	0	0	0	85	2	-2.406972	0	1	121412	3	37	1	0	1	1	2.004601	1	0.740000	1.770000	0.703839	2.000000e-02	0	0.070000	0.030000	0.036194	2.000000e-02	0	1.000000e-02	0.050000
HMCN1	83872	broad.mit.edu	37	1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TTTTGAGTATCTCAGGAAGTT	0.353000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.160000	3.318610	0.605240	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.400000	3.430000	0.392720	.	0.260319	0.43579	D	0.000544	T	0.53753	0.1816	L	0.47716	1.5	0.33535	D	0.594146	P	0.43169	0.8	B	0.42462	0.388	T	0.61850	-0.6978	10	0.34782	T	0.22	.	8.7355	0.34525	0.2826:0.6415:0.0:0.0759	.	367	Q96RW7	HMCN1_HUMAN	M	367	ENSP00000271588:I367M;ENSP00000356462:I367M	ENSP00000271588:I367M	I	+	3	3	HMCN1	184159224	1	0.714170	9.990000e-01	0.593770	0.997000	0.918780	3.005000	0.495210	0.558000	0.291350	0.655000	0.942530	ATC		TCGA-IB-A5SP-01A-11D-A32N-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	7	212	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	0.980795	7	212	0	42	2		0	0	0	0	43	2	-8.765153	1	1	0	0		1	0	1	1	2.004601	1	0.740000	1.770000	0.703839	7.000000e-02	3.000000e-02	0.150000	0.080000	0.085730	7.000000e-02	0	5.000000e-02	0.110000
KDM5B	10765	broad.mit.edu	37	1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					ATTCGCAGGCCCTGTGAAATA	0.542000																								0							SO:0001583	missense			ENST00000367265.3	1	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	17.450000	3.391676	0.620660	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.88046	-2.33;-2.33;-2.33	6.090000	4.150000	0.487050	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.449783	0.28871	N	0.013866	D	0.91036	0.7180	M	0.91140	3.18	0.33999	D	0.650031	P;P	0.49696	0.927;0.814	P;P	0.49276	0.605;0.563	D	0.93343	0.6711	10	0.56958	D	0.05	-5.713	9.9016	0.41351	0.0:0.8245:0.0:0.1755	.	1248;1212	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	1212;1054;1248;1054	ENSP00000356234:G1212C;ENSP00000356233:G1248C;ENSP00000235790:G1054C	ENSP00000235790:G1054C	G	-	1	0	KDM5B	200969427	4.320000e-01	0.255540	1.100000e-02	0.149720	0.797000	0.450370	0.847000	0.276960	0.798000	0.339940	0.643000	0.837060	GGC		TCGA-IB-A5SP-01A-11D-A32N-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1	135	143	0	52	1	1	18	21	0	52	2		0	0	0	0	0	2	1	1.000000	134	142	0	51	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	1	1	2.004601	1	0.740000	1.770000	0.703839	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999589	9.900000e-01	1	9.900000e-01	1.000000
USH2A	7399	broad.mit.edu	37	1	215933091	215933091	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000307340.3	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000366943.2_Silent_p.Q3714Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					TCAATTGATATTGAGAAACGA	0.428000										HNSCC(13;0.011)														0							SO:0001819	synonymous_variant			ENST00000307340.3	1	1	hg19	CCDS31025.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	112	314	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	111	310	0	78	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	0	1	1	2.004601	1	0.740000	1.770000	0.703839	6.100000e-01	5.200000e-01	0.720000	0.620000	0.625822	6.100000e-01	0	5.600000e-01	0.670000
PLD5	200150	broad.mit.edu	37	1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E|PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5			55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)		CCAGCATTCTGAGTGAAATCA	0.398000																								0							SO:0001583	missense			ENST00000536534.2	1	1	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	0.017000	-1.505959	0.009920	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.770000	5.770000	0.911460	.	0.137275	0.53938	D	0.000055	T	0.16599	0.0399	L	0.49126	1.545	0.30380	N	0.782052	B;P;B	0.39250	0.372;0.665;0.372	B;B;B	0.32677	0.15;0.119;0.15	T	0.10870	-1.0611	10	0.08837	T	0.75	-7.7223	13.5982	0.62002	0.0:0.0:0.8451:0.1548	.	371;463;401	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	401;371;463	ENSP00000401285:Q401E;ENSP00000414188:Q371E;ENSP00000440896:Q463E	ENSP00000401285:Q401E	Q	-	1	0	PLD5	240320003	1	0.714170	1	0.803570	0.064000	0.161820	3.937000	0.565750	2.723000	0.932090	0.655000	0.942530	CAG		TCGA-IB-A5SP-01A-11D-A32N-08	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1	125	295	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	125	292	0	86	2		0	0	0	0	87	2	-9.305342	1	1	0	0		1	0	1	1	1.963230	1	0.740000	1.770000	0.697463	6.800000e-01	5.800000e-01	0.790000	0.690000	0.692794	6.800000e-01	0	6.300000e-01	0.740000
SDCCAG8	10806	broad.mit.edu	37	1	243456473	243456473	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000343783.6_Silent_p.D64D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8			29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)		TTTCCCATGACAATGCAGATT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000366541.3	0	1	hg19	CCDS31075.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	0	0	0	7	388	0	66	0	7.609216e-02	0	22	0	66	2		0	0	0	0	0	2	1	0.979552	7	381	0	66	2		0	0	0	0	66	2	-6.752073	1	1	0	0		1	0	1	1	1.963230	1	0.740000	1.770000	0.697463	4.000000e-02	1.000000e-02	0.080000	0.040000	0.046796	4.000000e-02	0	2.000000e-02	0.060000
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000493901.1	-	15	2102	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	MAP3K6_ENST00000374040.3_Silent_p.T613T|MAP3K6_ENST00000357582.2_Silent_p.T621T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6			10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			AATCCGGGTTCGTCACCCAGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000493901.1	1	1	hg19	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.640000	1.407554	0.253780	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.200000	-0.331000	0.126790	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	1.4977	0.02470	0.1414:0.4258:0.1589:0.2739	.	.	.	.	Q	345	.	.	R	-	2	0	MAP3K6	27560056	2.000000e-03	0.142020	9.550000e-01	0.393950	0.932000	0.569680	-1.018000	0.036260	0.198000	0.204070	0.655000	0.942530	CGA		TCGA-IB-A5SP-01A-11D-A32N-08	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	1	0	1	19	85	0	29	1	9.955304e-01	3	40	0	29	2		0	0	0	0	0	2	1	0.999994	18	84	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	0	2	2	2.056041	1	0.740000	1.770000	0.740000	5.200000e-01	3.200000e-01	1.000000	0.490000	0.593906	5.200000e-01	0	4.100000e-01	1.000000
MATN1	4146	broad.mit.edu	37	1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein			12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)			GACATATTCCGCACAGCCGCC	0.592000																								0							SO:0001583	missense			ENST00000373765.4	0	1	hg19	CCDS336.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.400000	3.990861	0.747030	.	.	ENSG00000162510	ENST00000373765	T	0.79554	-1.28	5.340000	0.615000	0.176080	von Willebrand factor, type A (3);	.	.	.	.	D	0.88179	0.6367	M	0.78285	2.405	0.35079	D	0.763242	D;D	0.89917	0.999;1.0	D;D	0.68483	0.958;0.958	D	0.91112	0.4923	9	0.72032	D	0.01	-22.2694	14.8171	0.70041	0.0:0.0:0.2392:0.7608	.	327;343	A3KMG0;P21941	.;MATN1_HUMAN	W	343	ENSP00000362870:R343W	ENSP00000362870:R343W	R	-	1	2	MATN1	30961523	1	0.714170	9.980000e-01	0.565050	0.996000	0.888480	4.748000	0.621480	0.193000	0.203030	0.650000	0.862430	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	0	0	0	7	541	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	0.980210	8	536	0	130	2		0	0	0	0	131	2	-2.116668	0	1	121412	1	28	1	0	2	2	2.056041	1	0.740000	1.770000	0.740000	3.000000e-02	0	1.000000	0.040000	0.206485	3.000000e-02	0	1.000000e-02	1.000000
NINL	22981	broad.mit.edu	37	20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like			57					GGGCTGTGCCGGTTCTTGGGC	0.692000																								0							SO:0001583	missense			ENST00000278886.6	0	1	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	12.920000	2.083873	0.367580	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34859	1.58;1.34	4.730000	-5.110000	0.029010	.	2.414770	0.01809	N	0.033350	T	0.27765	0.0683	L	0.46741	1.465	0.09310	N	1	B;B	0.26147	0.143;0.001	B;B	0.15484	0.013;0.0	T	0.25433	-1.0132	10	0.51188	T	0.08	-6.8188	5.0826	0.14664	0.3951:0.0:0.3319:0.273	.	583;583	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	583	ENSP00000278886:R583W;ENSP00000410431:R583W	ENSP00000278886:R583W	R	-	1	2	NINL	25410667	0	0.058580	0	0.037020	0.001000	0.015030	-0.540000	0.061060	-0.682000	0.051970	0.555000	0.697020	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	0	0	0	6	577	0	166	0	6.775956e-03	0	10	0	166	2		0	0	0	0	0	2	1	0.964371	6	573	0	166	2		0	0	0	0	166	2	-3.201131	1	1	121200	4	38	1	1	2	3	2.231308	0	0.740000	1.770000	0.741910	2.000000e-02	0	0.070000	0.030000	0.041081	2.000000e-02	0	1.000000e-02	0.050000
TOX2	84969	broad.mit.edu	37	20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		AGCCTCGCCCGGACGCTGGGC	0.706000																								0							SO:0001583	missense			ENST00000358131.5	1	1	hg19	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	14.440000	2.536841	0.451760	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.14766	2.72;2.73;2.73;2.57;2.48	5.110000	4.160000	0.488620	.	0.000000	0.39687	N	0.001299	T	0.22003	0.0530	L	0.37850	1.14	0.45946	D	0.998777	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.99;0.978;0.978	T	0.03576	-1.1023	10	0.07325	T	0.83	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	253;375;357;333	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	Q	375;333;333;357;253	ENSP00000344724:R375Q;ENSP00000390278:R333Q;ENSP00000362090:R333Q;ENSP00000350849:R357Q;ENSP00000396777:R253Q	ENSP00000344724:R375Q	R	+	2	0	TOX2	42127929	1	0.714170	9.980000e-01	0.565050	0.161000	0.222730	5.322000	0.658520	1.282000	0.444960	-0.136000	0.146810	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1	190	348	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1.000000	188	342	0	136	2		0	0	0	0	140	2	-19.060080	1	1	121170	9	41	1	1	2	3	2.231308	0	0.740000	1.770000	0.741910	9.500000e-01	8.400000e-01	1.000000	1.000000	0.954210	9.500000e-01	1	9.000000e-01	1.000000
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000603338.2_Silent_p.H617H|TSHZ2_ENST00000329613.6_Silent_p.H617H|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		AAAGTCCCCACGAAGAGGCCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000371497.5	1	1	hg19	CCDS33490.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	0	189	375	0	95	1	9.858197e-01	5	11	0	95	2		0	0	0	0	0	2	1	1.000000	185	369	0	95	2		0	0	0	0	95	2	-20.000000	1	1	121412	2	37	1	1	2	3	2.231308	0	0.740000	1.770000	0.741910	9.000000e-01	8.000000e-01	1.000000	0.910000	0.912890	9.000000e-01	1	8.500000e-01	0.970000
COL20A1	57642	broad.mit.edu	37	20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000358894.6	+	3	257	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000422202.1_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1			36	all_cancers(38;1.39e-10)				GGAGGGGAGCGGCCTCGGCTA	0.632000																								0							SO:0001583	missense			ENST00000358894.6	0	1	hg19	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	2.312000	-0.357702	0.051380	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.950000	-1.670000	0.082380	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.543240	0.18383	N	0.142918	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.17137	-1.0379	10	0.21014	T	0.42	.	8.946	0.35758	0.8054:0.0:0.1946:0.0	.	53	Q9P218	COKA1_HUMAN	S	53	ENSP00000351767:G53S;ENSP00000323077:G53S;ENSP00000408690:G53S;ENSP00000414753:G53S	ENSP00000323077:G53S	G	+	1	0	COL20A1	61399781	0	0.058580	5.700000e-02	0.194520	0.005000	0.049000	0.036000	0.138190	-0.160000	0.110020	-0.229000	0.122940	GGC		TCGA-IB-A5SP-01A-11D-A32N-08	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	0	0	7	295	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	0.979507	6	290	0	113	2		0	0	0	0	115	2	-3.730716	1	1	120818	1	32	1	1	2	3	2.231308	0	0.740000	1.770000	0.741910	6.000000e-02	2.000000e-02	0.140000	0.060000	0.080684	6.000000e-02	0	4.000000e-02	0.100000
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology			130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		AGGTGACACCCGGGCTGCTCC	0.453000																								0							SO:0001583	missense			ENST00000361285.4	1	1	hg19	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078000	0.012302	0.079120	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558000	-1.120000	0.098080	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0	0.058580	0	0.037020	0.001000	0.015030	-2.181000	0.012570	-2.672000	0.004130	-2.396000	0.002260	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	1	0	1	195	668	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1.000000	186	551	0	163	2		0	0	0	0	163	2	-4.869643	1	1	121412	22	43	1	0	2	2	1.924057	0	0.740000	1.770000	0.740000	6.100000e-01	5.300000e-01	1.000000	0.610000	0.660918	6.100000e-01	0	5.700000e-01	0.680000
DYRK1A	1859	broad.mit.edu	37	21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000398960.2	+	9	1486	c.1411T>A	c.(1411-1413)Tat>Aat	p.Y471N	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Y462N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A			42					AATTCAACCTTATTATGCTCT	0.438000													Melanoma(114;464 1602 31203 43785 45765)											0							SO:0001583	missense			ENST00000398960.2	0	1	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	16.090000	3.024460	0.546830	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.830000	5.830000	0.931110	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120768	0.64402	D	0.000014	T	0.42899	0.1223	N	0.02685	-0.53	0.80722	D	1	B;B;B;B;B	0.26845	0.005;0.005;0.161;0.133;0.005	B;B;B;B;B	0.30179	0.035;0.035;0.112;0.068;0.035	T	0.49163	-0.8968	10	0.66056	D	0.02	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	471;471;471;462;471	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	471;462;471;471;471;471;243	ENSP00000342690:Y471N;ENSP00000340373:Y462N;ENSP00000319032:Y471N;ENSP00000416089:Y471N;ENSP00000381932:Y471N;ENSP00000381929:Y471N;ENSP00000407854:Y243N	ENSP00000319032:Y471N	Y	+	1	0	DYRK1A	37799627	1	0.714170	9.990000e-01	0.593770	0.983000	0.724000	7.977000	0.880810	2.228000	0.727670	0.528000	0.532280	TAT		TCGA-IB-A5SP-01A-11D-A32N-08	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	0	0	0	5	417	0	110	0	2.084297e-02	0	15	0	110	2		0	0	0	0	0	2	1	0.937502	4	417	0	108	2		0	0	0	0	110	2	-5.377386	1	0	0	0		1	0	1	1	1.505428	1	0.740000	1.770000	0.592093	1.000000e-02	0	0.050000	0.020000	0.024238	1.000000e-02	0	0	0.030000
SLC19A1	6573	broad.mit.edu	37	21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1			10				Methotrexate(DB00563)|Pralatrexate(DB06813)	AGGAAGAGGGCGAGGACCACG	0.647000																								0							SO:0001583	missense			ENST00000311124.4	1	1	hg19	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	14.350000	2.510194	0.446600	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	T;T;T	0.81330	-1.48;-1.48;-1.48	4.620000	-5.280000	0.027550	Major facilitator superfamily domain, general substrate transporter (1);	0.404697	0.27544	N	0.018889	T	0.60830	0.2299	L	0.35288	1.05	0.25111	N	0.990718	P;P;B;P	0.35481	0.504;0.504;0.262;0.504	B;B;B;B	0.33960	0.173;0.058;0.019;0.032	T	0.55029	-0.8204	10	0.33940	T	0.23	-15.7351	5.7407	0.18092	0.2584:0.1321:0.0:0.6095	.	160;222;200;200	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	200;200;160	ENSP00000308895:A200T;ENSP00000369347:A200T;ENSP00000441772:A160T	ENSP00000308895:A200T	A	-	1	0	SLC19A1	45776082	1.200000e-02	0.176700	1.720000e-01	0.229200	0.879000	0.507180	-0.237000	0.089900	-0.965000	0.035910	0.306000	0.203180	GCC		TCGA-IB-A5SP-01A-11D-A32N-08	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1	1	0	0	54	44	0	47	1	8.628921e-01	4	1	0	47	2		0	0	0	0	0	2	1	1.000000	53	44	0	46	2		0	0	0	0	47	2	-20.000000	1	1	121298	2	23	1	0	1	1	1.452635	1	0.740000	1.770000	0.587302	9.000000e-01	7.500000e-01	1.000000	0.930000	0.901602	9.000000e-01	1	8.200000e-01	0.970000
HIRA	7290	broad.mit.edu	37	22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator			37	Colorectal(54;0.0993)				TTAAAGAATGCCGTGGAGAAG	0.488000																								0							SO:0001583	missense			ENST00000263208.5	0	1	hg19	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.700000	5.030001	0.935750	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.4;-0.64;-0.48;-0.46	5.280000	5.280000	0.743790	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;P	0.67145	0.974;0.996;0.956	P;D;P	0.79784	0.647;0.993;0.549	T	0.69228	-0.5200	10	0.16896	T	0.51	-16.2298	19.1181	0.93350	0.0:1.0:0.0:0.0	.	433;477;477	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	T	477;477;433;433	ENSP00000345350:A477T;ENSP00000263208:A477T;ENSP00000446073:A433T;ENSP00000441870:A433T	ENSP00000263208:A477T	A	-	1	0	HIRA	17745576	1	0.714170	1	0.803570	0.999000	0.989320	6.297000	0.727570	2.756000	0.946170	0.655000	0.942530	GCA		TCGA-IB-A5SP-01A-11D-A32N-08	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	0	0	0	5	330	0	115	0	1.890112e-01	0	44	0	115	2		0	0	0	0	0	2	1	0.936510	5	327	0	115	2		0	0	0	0	115	2	-2.013891	0	1	0	0		1	0	1	1	1.494306	1	0.740000	1.770000	0.589711	2.000000e-02	0	0.060000	0.030000	0.030412	2.000000e-02	0	1.000000e-02	0.040000
MED15	51586	broad.mit.edu	37	22	20929453	20929453	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15			25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		CCCGGTTCCCGCCTACCACCG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000263205.7	0	1	hg19	CCDS33602.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	0	0	0	6	373	0	131	0	1.100247e-01	0	30	0	131	2		0	0	0	0	0	2	1	0.964991	6	372	0	131	2		0	0	0	0	131	2	-2.466742	0	1	0	0		1	0	1	1	1.494306	1	0.740000	1.770000	0.589711	2.000000e-02	0	0.060000	0.030000	0.031425	2.000000e-02	0	1.000000e-02	0.040000
MGAT5	4249	broad.mit.edu	37	2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase			36					CATTTGGGGTATGATGCTTCT	0.522000																								0							SO:0001583	missense			ENST00000409645.1	1	1	hg19	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	17.620000	3.435716	0.629550	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.880000	4.880000	0.635800	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38531	1.155	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.56541	-0.7962	9	0.16420	T	0.52	-29.1494	14.9292	0.70903	1.0:0.0:0.0:0.0	.	27	Q09328	MGT5A_HUMAN	V	27	.	ENSP00000281923:M27V	M	+	1	0	MGAT5	134728523	1	0.714170	9.920000e-01	0.483790	0.996000	0.888480	9.087000	0.941100	2.162000	0.679170	0.528000	0.532280	ATG		TCGA-IB-A5SP-01A-11D-A32N-08	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	1	0	1	75	134	0	29	1	9.998141e-01	12	15	0	29	2		0	0	0	0	0	2	1	1.000000	74	134	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	2.252328	0	0.740000	1.770000	0.743792	9.800000e-01	8.000000e-01	1.000000	1.000000	0.957723	9.800000e-01	1	8.900000e-01	1.000000
SCN2A	6326	broad.mit.edu	37	2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGCAGCCGCATCTGCTGA	0.408000																								0							SO:0001583	missense			ENST00000375437.2	0	1	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	11.480000	1.650394	0.293360	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.95;-3.95;-3.95;-3.95	5.900000	5.020000	0.671250	.	0.539045	0.18025	N	0.154104	D	0.93360	0.7883	L	0.40543	1.245	0.49483	D	0.999793	B;B	0.21520	0.055;0.057	B;B	0.19666	0.026;0.013	D	0.90222	0.4272	10	0.21540	T	0.41	.	15.0639	0.71977	0.0677:0.0:0.9323:0.0	.	467;467	Q99250-2;Q99250	.;SCN2A_HUMAN	T	467	ENSP00000406454:A467T;ENSP00000364586:A467T;ENSP00000349973:A467T;ENSP00000283256:A467T;ENSP00000364576:A467T	ENSP00000283256:A467T	A	+	1	0	SCN2A	165880242	9.940000e-01	0.377170	7.460000e-01	0.310950	0.313000	0.280210	3.124000	0.504610	1.496000	0.485670	0.650000	0.862430	GCA		TCGA-IB-A5SP-01A-11D-A32N-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	0	0	11	422	1	45		0	0	0	1	45	2		0	0	0	0	0	2	0	0.005237	11	417	1	45	27		0	0	0	1	45	2	-2.871021	1	1	121412	4	39	1	1	2	3	2.252328	0	0.740000	1.770000	0.743792	6.000000e-02	2.000000e-02	1.000000	0.070000	0.102194	6.000000e-02	0	4.000000e-02	0.100000
TTN	7273	broad.mit.edu	37	2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000591111.1	-	276	69874	c.69650T>A	c.(69649-69651)aTt>aAt	p.I23217N	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I24858N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGCTGATACAATTTGCCAGGT	0.418000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.560000	1.674275	0.296930	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.930000	5.930000	0.959200	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53786	0.1818	N	0.14661	0.345	0.51482	D	0.999922	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.58331	0.837;0.837;0.837;0.828	T	0.61535	-0.7043	9	0.87932	D	0	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	15793;15918;15985;23217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22290;15793;15985;15918;15791	ENSP00000343764:I22290N;ENSP00000434586:I15793N;ENSP00000340554:I15985N;ENSP00000352154:I15918N	ENSP00000340554:I15985N	I	-	2	0	TTN	179144532	1	0.714170	1	0.803570	0.978000	0.694770	7.251000	0.782970	2.261000	0.749720	0.528000	0.532280	ATT		TCGA-IB-A5SP-01A-11D-A32N-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	54	114	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	54	113	0	19	2		0	0	0	0	19	2	-20.000000	1	1	0	0		1	1	2	3	2.252328	0	0.740000	1.770000	0.743792	8.800000e-01	6.900000e-01	1.000000	1.000000	0.882675	8.800000e-01	1	7.800000e-01	0.990000
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000409749.3	-	6	1226	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	ASB18_ENST00000330842.6_Silent_p.P380P|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18			6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)			ACTGGTAGAACGGCTTGTGCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000409749.3	1	1	hg19	CCDS46548.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	1	0	1	56	100	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	55	99	0	33	2		0	0	0	0	34	2	-20.000000	1	1	121092	1	38	1	1	2	3	2.221947	0	0.740000	1.770000	0.741910	9.700000e-01	7.700000e-01	1.000000	1.000000	0.948228	9.700000e-01	1	8.700000e-01	1.000000
POMC	5443	broad.mit.edu	37	2	25387630	25387630	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin			12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Loperamide(DB00836)	GGCTGCAGCACGATCTCGGCA	0.607000													Colon(110;1515 1566 8452 10082 43216)											0							SO:0001819	synonymous_variant			ENST00000405623.1	0	1	hg19	CCDS1717.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	0	0	0	6	367	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	0.964100	6	363	0	73	2		0	0	0	0	73	2	-6.192198	1	1	121412	1	30	1	1	2	3	2.261196	0	0.740000	1.770000	0.744723	4.000000e-02	0	1.000000	0.040000	0.087339	4.000000e-02	0	2.000000e-02	0.080000
DPYSL5	56896	broad.mit.edu	37	2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5			27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CATGATCCCTGGCGGGGCCAA	0.587000																								0							SO:0001583	missense			ENST00000288699.6	0	1	hg19	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	26.300000	4.728087	0.893900	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.85258	-1.06;-1.96;-1.96;-1.06;-1.06	4.850000	4.850000	0.628380	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	L	0.33485	1.01	0.58432	D	0.999992	B	0.30937	0.301	B	0.28139	0.086	T	0.77253	-0.2656	10	0.37606	T	0.19	-13.6077	17.1086	0.86669	0.0:0.0:1.0:0.0	.	46	Q9BPU6	DPYL5_HUMAN	S	46	ENSP00000407174:G46S;ENSP00000288699:G46S;ENSP00000385549:G46S;ENSP00000399581:G46S;ENSP00000413075:G46S	ENSP00000288699:G46S	G	+	1	0	DPYSL5	26975007	1	0.714170	5.040000e-01	0.276390	0.986000	0.746190	9.333000	0.964590	2.403000	0.816810	0.561000	0.740990	GGC		TCGA-IB-A5SP-01A-11D-A32N-08	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	0	0	0	4	315	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	0.888013	4	311	0	62	2		0	0	0	0	63	2	-4.889804	1	1	0	0		1	1	2	3	2.261196	0	0.740000	1.770000	0.744723	3.000000e-02	0	1.000000	0.040000	0.078814	3.000000e-02	0	1.000000e-02	0.070000
MCF2L2	23101	broad.mit.edu	37	3	183027561	183027561	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2			72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		CGTGCATCACGCTGTCTCCAA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000328913.3	1	1	hg19	CCDS3243.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	0	0	11	402	0	84	0	2.650169e-03	0	3	0	84	2		0	0	0	0	0	2	1	0.998337	11	400	0	82	2		0	0	0	0	84	2	-2.872809	1	1	121412	3	36	1	0	1	1	1.954591	1	0.740000	1.770000	0.700046	6.000000e-02	2.000000e-02	0.110000	0.060000	0.067680	6.000000e-02	0	4.000000e-02	0.090000
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha			18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	Choline(DB00122)|Lamivudine(DB00709)	AAGTCTTGCCGGAGAAGGGCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000292823.2	0	1	hg19	CCDS3315.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	0	0	0	5	355	1	89	0	9.179977e-03	0	87	1	89	6		0	0	0	0	0	2	0	0.017052	6	347	1	86	15		0	0	0	1	89	2	-2.727133	1	1	121406	15	43	1	0	1	1	1.964826	1	0.740000	1.770000	0.701321	3.000000e-02	0	0.070000	0.030000	0.038766	3.000000e-02	0	1.000000e-02	0.050000
OSBPL10	114884	broad.mit.edu	37	3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10			34					GAGGGTGGCAGCAGAGGTAGC	0.637000																								0							SO:0001583	missense			ENST00000396556.2	0	1	hg19	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	20.500000	4.000746	0.748180	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45276	0.9;0.9;0.9	5.610000	4.740000	0.602240	.	0.047989	0.85682	D	0.000000	T	0.62962	0.2471	M	0.74881	2.28	0.50171	D	0.999853	D;P;P	0.89917	1.0;0.949;0.901	D;P;P	0.87578	0.998;0.642;0.49	T	0.62320	-0.6879	10	0.30078	T	0.28	-12.5971	14.4653	0.67480	0.0704:0.0:0.9296:0.0	.	219;283;51	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	V	283;219;91	ENSP00000379804:A283V;ENSP00000406124:A219V;ENSP00000399200:A91V	ENSP00000379804:A283V	A	-	2	0	OSBPL10	31764498	1	0.714170	2.950000e-01	0.249600	0.993000	0.825480	9.459000	0.976380	1.367000	0.460950	0.549000	0.686330	GCT		TCGA-IB-A5SP-01A-11D-A32N-08	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2	0	0	0	5	509	0	122	0	4.021961e-02	0	26	0	122	2		0	0	0	0	0	2	0	0.018499	5	504	1	121	15		0	0	0	0	122	2	-2.680701	1	1	0	0		1	0	1	1	1.952909	1	0.740000	1.770000	0.697463	2.000000e-02	0	0.050000	0.020000	0.026381	2.000000e-02	0	0	0.040000
RNF123	63891	broad.mit.edu	37	3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					CCATTACCTGCGGCTCACTAT	0.607000																								0							SO:0001583	missense			ENST00000327697.6	0	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	23.100000	4.373157	0.825730	0.0	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76060	-0.7;-0.99	5.260000	3.380000	0.387090	.	0.575264	0.18160	N	0.149820	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.988	P;P	0.50231	0.635;0.513	T	0.68629	-0.5358	10	0.56958	D	0.05	-11.9117	13.28	0.60208	0.2744:0.7256:0.0:0.0	.	260;406	C9J266;Q5XPI4	.;RN123_HUMAN	W	406;406;260	ENSP00000328287:R406W;ENSP00000392443:R260W	ENSP00000328287:R406W	R	+	1	2	RNF123	49713085	1	0.714170	9.960000e-01	0.522420	0.974000	0.676020	3.753000	0.551800	0.541000	0.288270	0.561000	0.740990	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	0	0	6	628	0	169	0	4.653204e-02	0	30	0	169	2		0	0	0	0	0	2	1	0.962973	6	616	0	165	2		0	0	0	0	169	2	-2.683539	1	1	121412	2	38	1	0	1	1	1.952909	1	0.740000	1.770000	0.697463	1.000000e-02	0	0.050000	0.020000	0.024732	1.000000e-02	0	0	0.040000
C4orf17	84103	broad.mit.edu	37	4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000326581.4	+	7	1162	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000514652.1_Missense_Mutation_p.V267A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17			18					AAATCAAAAGTGCTGACCAGA	0.458000																								0							SO:0001583	missense			ENST00000326581.4	1	1	hg19	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	T	10.360000	1.329614	0.241670	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18810	2.21;2.19	5.030000	-0.460000	0.121750	.	0.437967	0.19567	N	0.111193	T	0.13841	0.0335	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.19666	0.026	T	0.29731	-1.0002	10	0.20519	T	0.43	-0.8055	7.9028	0.29744	0.0:0.5021:0.0:0.4979	.	267	Q53FE4	CD017_HUMAN	A	267	ENSP00000322582:V267A;ENSP00000427663:V267A	ENSP00000322582:V267A	V	+	2	0	C4orf17	100679514	1.400000e-01	0.225790	6.800000e-02	0.199680	0.002000	0.026280	0.035000	0.137970	0.052000	0.160070	-0.290000	0.098290	GTG		TCGA-IB-A5SP-01A-11D-A32N-08	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	0	0	0	21	274	1	61		0	0	0	1	61	2		0	0	0	0	0	2	1	0.843303	21	274	1	61	16		0	0	0	1	61	2	-7.039774	1	1	0	0		1	0	1	1	1.671928	1	0.740000	1.770000	0.630682	1.300000e-01	8.000000e-02	0.200000	0.140000	0.140660	1.300000e-01	0	1.000000e-01	0.170000
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2			39					GATCTCAGAAGAACTGAAGAC	0.413000																								0							SO:0001583	missense			ENST00000358842.3	1	1	hg19	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	5.559000	0.287923	0.105130	.	.	ENSG00000196475	ENST00000358842	T	0.58060	0.36	4.570000	2.800000	0.328190	Carbohydrate kinase, FGGY, N-terminal (1);	0.115441	0.64402	N	0.000010	T	0.53206	0.1782	M	0.71581	2.175	0.58432	D	0.999998	B	0.31290	0.318	B	0.34093	0.175	T	0.57860	-0.7738	10	0.72032	D	0.01	-10.4064	13.132	0.59389	0.0:0.3081:0.6919:0.0	.	236	Q14410	GLPK2_HUMAN	C	236	ENSP00000351706:S236C	ENSP00000351706:S236C	S	-	2	0	GK2	80547672	1	0.714170	9.990000e-01	0.593770	0.136000	0.210420	3.061000	0.499630	0.612000	0.300710	-0.203000	0.127340	TCT		TCGA-IB-A5SP-01A-11D-A32N-08	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	1	0	0	29	328	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	26	326	0	73	2		0	0	0	0	73	2	-9.428238	1	1	0	0		1	0	1	1	1.671928	1	0.740000	1.770000	0.630682	1.500000e-01	1.000000e-01	0.210000	0.150000	0.158739	1.500000e-01	0	1.200000e-01	0.190000
ADAMTS19	171019	broad.mit.edu	37	5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGTACCAGCAGGACCTCAGCA	0.507000																								0							SO:0001583	missense			ENST00000274487.4	1	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.100000	1.835992	0.324210	.	.	ENSG00000145808	ENST00000274487	T	0.62232	0.04	4.710000	3.840000	0.442390	.	0.133374	0.47852	N	0.000212	T	0.32645	0.0836	N	0.04245	-0.25	0.33562	D	0.59748	B	0.06786	0.001	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	.	6.0807	0.19940	0.1582:0.0:0.6875:0.1543	.	628	Q8TE59	ATS19_HUMAN	K	628	ENSP00000274487:R628K	.	R	+	2	0	ADAMTS19	129011385	1	0.714170	1	0.803570	0.999000	0.989320	2.233000	0.430270	1.586000	0.499440	0.650000	0.862430	AGG		TCGA-IB-A5SP-01A-11D-A32N-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	1	0	1	255	436	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1.000000	255	433	0	70	2		0	0	0	0	70	2	-20.000000	1	1	0	0		1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	9.900000e-01	9.400000e-01	1.000000	1.000000	0.995450	9.900000e-01	1	9.900000e-01	1.000000
PCDHA1	56147	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_Silent_p.N238N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1			70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTAATGATAACGCCCCACTGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000504120.2	1	1	hg19	CCDS54913.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	1	0	1	173	282	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	1.000000	170	279	0	101	2		0	0	0	0	101	2	-20.000000	1	1	121412	1	30	1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	9.900000e-01	9.500000e-01	1.000000	1.000000	0.997039	9.900000e-01	1	9.900000e-01	1.000000
ADAM19	8728	broad.mit.edu	37	5	156915309	156915309	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000517905.1	-	21	2558	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000257527.4_Silent_p.R838R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19			53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GGGGAATTGGCCGGCTTGGAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000517905.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	4.950000	0.176471	0.094430	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.690000	2.920000	0.339320	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54077	-0.8347	4	.	.	.	.	9.7224	0.40311	0.0:0.7816:0.0:0.2184	.	.	.	.	D	409	.	.	G	-	2	0	ADAM19	156847887	9.880000e-01	0.358960	9.980000e-01	0.565050	0.351000	0.292360	0.032000	0.137320	0.738000	0.326060	0.491000	0.489740	GGC		TCGA-IB-A5SP-01A-11D-A32N-08	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	0	0	0	7	1027	0	206	0	6.676050e-05	0	2	0	206	2		0	0	0	0	0	2	1	0.979986	7	1018	0	204	2		0	0	0	0	206	2	-1.850776	0	1	0	0		1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	1.000000e-02	0	1.000000	0.020000	0.076948	1.000000e-02	0	0	0.030000
COL23A1	91522	broad.mit.edu	37	5	177688748	177688748	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1			19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TCCCTTTGGGCCCTGGAACAA	0.562000																								0							SO:0001630	splice_region_variant			ENST00000390654.3	1	0	hg19	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	14.680000	2.606433	0.465270	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.99637	-6.29;-6.29	5.290000	5.290000	0.746850	.	0.150367	0.42548	D	0.000684	D	0.99802	0.9915	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96894	0.9655	10	0.87932	D	0	-8.2243	14.438	0.67296	0.0:1.0:0.0:0.0	.	226	Q86Y22	CONA1_HUMAN	V	226;190	ENSP00000375069:G226V;ENSP00000385092:G190V	ENSP00000375069:G226V	G	-	2	0	COL23A1	177621354	1	0.714170	1	0.803570	0.222000	0.248450	3.891000	0.562270	2.469000	0.834160	0.491000	0.489740	GGC		TCGA-IB-A5SP-01A-11D-A32N-08	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	1	0	1	146	230	0	85	0	3.364934e-01	0	3	0	85	2		0	0	0	0	0	2	1	1.000000	144	227	0	85	2		0	0	0	0	85	2	-19.621590	1	1	0	0		1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	9.900000e-01	9.600000e-01	1.000000	1.000000	0.997942	9.900000e-01	1	9.900000e-01	1.000000
C5orf38	153571	broad.mit.edu	37	5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000334000.3	+	2	400	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_Missense_Mutation_p.E95K	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38			4					CAGTCACGTCGAGAACGGGCA	0.602000																								0							SO:0001583	missense			ENST00000334000.3	0	1	hg19	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	7.522000	0.656835	0.145800	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.470000	-4.950000	0.030480	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	8	0.87932	D	0	.	1.2249	0.01932	0.4102:0.2803:0.1664:0.143	.	95	Q86SI9	CEI_HUMAN	K	95	.	ENSP00000334267:E95K	E	+	1	0	C5orf38	2805818	0	0.058580	0	0.037020	0.015000	0.088740	-2.638000	0.008660	-1.913000	0.010790	0.313000	0.208870	GAG		TCGA-IB-A5SP-01A-11D-A32N-08	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	0	0	0	7	673	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	0.980049	7	667	0	163	2		0	0	0	0	166	2	-3.070793	1	1	121412	2	33	1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	2.000000e-02	0	1.000000	0.030000	0.086038	2.000000e-02	0	1.000000e-02	0.050000
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa			20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		GTCATGGATGCGGATGACGAG	0.612000																								0							SO:0001583	missense			ENST00000264935.5	0	1	hg19	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455000	0.854063	0.171060	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.140000	2.140000	0.274770	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	2.300000e-02	0.189210	2.100000e-02	0.166860	0.247000	0.257730	0.787000	0.268580	0.650000	0.307690	-0.355000	0.076370	GCG		TCGA-IB-A5SP-01A-11D-A32N-08	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	0	7	1028	0	312	0	2.890763e-02	0	33	0	312	2		0	0	0	0	0	2	1	0.979492	7	1015	0	309	2		0	0	0	0	312	2	-1.810166	0	1	121412	2	39	1	2	2	4	2.296524	0	0.740000	1.770000	0.752805	1.000000e-02	0	1.000000	0.020000	0.076940	1.000000e-02	0	0	0.030000
GRM1	2911	broad.mit.edu	37	6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000282753.1	+	8	3308	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1025A|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			GCAACCCCCTCCACAGCAGAA	0.662000																								0							SO:0001583	missense			ENST00000282753.1	1	1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	5.758000	0.324185	0.109000	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	2.790000	0.452000	0.166340	.	1.033610	0.07658	N	0.933160	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43861	-0.9365	10	0.05833	T	0.94	.	3.4837	0.07611	0.0:0.5533:0.2518:0.1949	.	1025	Q13255	GRM1_HUMAN	A	1025	ENSP00000354896:P1025A;ENSP00000282753:P1025A	ENSP00000282753:P1025A	P	+	1	0	GRM1	146797113	1.000000e-02	0.173220	5.200000e-02	0.191880	0.885000	0.512710	2.510000	0.454680	0.066000	0.165150	0.306000	0.203180	CCA		TCGA-IB-A5SP-01A-11D-A32N-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1	114	333	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1.000000	115	325	0	145	2		0	0	0	0	148	2	-5.752105	1	0	0	0		1	0	1	1	1.502892	1	0.740000	1.770000	0.589711	4.300000e-01	3.600000e-01	0.500000	0.440000	0.437982	4.300000e-01	0	3.900000e-01	0.470000
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2			65		Ovarian(120;0.196)			GGGGTGGTCCGGAAGGCCGGG	0.542000																								0							SO:0001583	missense			ENST00000461783.3	0	1	hg19	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36.000000	5.737056	0.968650	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	6.080000	6.080000	0.989890	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.84890	0.0836	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	508;508	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	508;754;508;508;508;508;508	ENSP00000437188:R508Q;ENSP00000434901:R508Q;ENSP00000407746:R508Q;ENSP00000327315:R508Q;ENSP00000353528:R508Q;ENSP00000433348:R508Q	ENSP00000327315:R508Q	R	+	2	0	TIAM2	155500331	1	0.714170	9.930000e-01	0.491080	0.972000	0.667710	9.476000	0.978230	2.894000	0.992530	0.655000	0.942530	CGG		TCGA-IB-A5SP-01A-11D-A32N-08	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	0	0	5	299	0	99	0	4.243622e-03	0	5	0	99	2		0	0	0	0	0	2	1	0.937504	5	298	0	99	2		0	0	0	0	99	2	-3.042169	1	1	121412	5	39	1	0	1	1	1.502892	1	0.740000	1.770000	0.589711	2.000000e-02	0	0.060000	0.030000	0.033500	2.000000e-02	0	1.000000e-02	0.050000
HIST1H2AC	8334	broad.mit.edu	37	6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac			12					TAACATCCAGGCCGTGCTTCT	0.582000																								0							SO:0001583	missense			ENST00000602637.1	1	1	hg19	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	13.940000	2.385900	0.423080	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.40756	1.02;1.02	5.500000	5.500000	0.815520	Histone-fold (2);Histone H2A (2);	0.000000	0.44285	D	0.000478	T	0.20047	0.0482	L	0.31845	0.965	0.41553	D	0.988589	B	0.10296	0.003	B	0.12156	0.007	T	0.02728	-1.1118	10	0.37606	T	0.19	.	13.6874	0.62524	0.0:0.0:0.8458:0.1542	.	114	Q93077	H2A1C_HUMAN	S	114	ENSP00000367022:A114S;ENSP00000321389:A114S	ENSP00000321389:A114S	A	+	1	0	HIST1H2AC	26232779	1	0.714170	1	0.803570	0.559000	0.355860	7.712000	0.846840	2.750000	0.943510	0.467000	0.429560	GCC		TCGA-IB-A5SP-01A-11D-A32N-08	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	1	0	0	28	257	0	89	1	9.996881e-01	14	103	0	89	2		0	0	0	0	0	2	1	1.000000	26	256	0	89	2		0	0	0	0	89	2	-20.000000	1	1	0	0		1	0	1	1	1.499983	1	0.740000	1.770000	0.592093	1.600000e-01	1.100000e-01	0.230000	0.170000	0.173650	1.600000e-01	0	1.300000e-01	0.200000
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.P479P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9			92					ACCCTTTGCCGTACCTCCAGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000252050.4	0	1	hg19	CCDS4890.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	0	0	5	552	0	191	0	1.336898e-04	0	2	0	191	2		0	0	0	0	0	2	1	0.936007	6	545	0	188	2		0	0	0	0	191	2	-2.078869	0	1	121412	2	30	1	0	1	1	1.502892	1	0.740000	1.770000	0.589711	1.000000e-02	0	0.040000	0.020000	0.018051	1.000000e-02	0	0	0.030000
RCAN2	10231	broad.mit.edu	37	6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000330430.6	-	3	619	c.431C>T	c.(430-432)cCa>cTa	p.P144L	RCAN2_ENST00000371374.1_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2			8					AAGCTTACCTGGTCCTAGTTT	0.488000																								0							SO:0001583	missense			ENST00000330430.6	0	1	hg19	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	G	31.000000	5.100723	0.942450	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.700000	5.700000	0.887880	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.73217	2.22	0.80722	D	1	P;P	0.50710	0.938;0.775	P;B	0.58130	0.833;0.396	T	0.74609	-0.3608	9	0.87932	D	0	-9.8695	18.8222	0.92102	0.0:0.0:1.0:0.0	.	190;144	Q14206-2;Q14206	.;RCAN2_HUMAN	L	144;190;190;190	.	ENSP00000305223:P190L	P	-	2	0	RCAN2	46322446	1	0.714170	1	0.803570	0.953000	0.610140	9.378000	0.971910	2.703000	0.923150	0.585000	0.799380	CCA		TCGA-IB-A5SP-01A-11D-A32N-08	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1	0	0	0	5	157	0	31	0	9.718456e-02	0	14	0	31	2		0	0	0	0	0	2	1	0.934359	5	153	0	31	2		0	0	0	0	31	2	-3.339483	1	1	0	0		1	0	1	1	1.502892	1	0.740000	1.770000	0.589711	5.000000e-02	1.000000e-02	0.110000	0.050000	0.062396	5.000000e-02	0	3.000000e-02	0.090000
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	p.R248L(1)		24					AGTGATGTCCGCACAGAAGAG	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393232.1	0	1	hg19	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.582880	0.965780	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.850000	5.850000	0.937110	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1	0.714170	1	0.803570	0.893000	0.520530	9.499000	0.979750	2.772000	0.953460	0.655000	0.942530	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	0	0	0	7	556	0	131	0	4.811622e-02	0	24	0	131	2		0	0	0	0	0	2	1	0.979702	5	551	0	129	2		0	0	0	0	131	2	-1.829393	0	1	0	0		1	0	1	1	2.009032	0	0.740000	1.770000	0.718096	2.000000e-02	0	0.060000	0.040000	0.035111	2.000000e-02	0	1.000000e-02	0.050000
HDAC9	9734	broad.mit.edu	37	7	18668998	18668998	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000432645.2	+	6	681	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Silent_p.R227R|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000417496.2_Intron	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000432645.2	0	1	hg19	CCDS47555.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	0	33	66	0	8	0	5.423152e-01	0	5	0	8	2		0	0	0	0	0	2	1	1.000000	33	66	0	8	2		0	0	0	0	8	2	-20.000000	1	1	120746	1	30	1	2	2	4	2.366928	1	0.740000	1.770000	0.759571	9.800000e-01	7.200000e-01	1.000000	1.000000	0.940855	9.800000e-01	1	8.400000e-01	1.000000
ELN	2006	broad.mit.edu	37	7	73474290	73474290	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474290T>G	ENST00000252034.7	+	23	1888	c.1489T>G	c.(1489-1491)Ttg>Gtg	p.L497V	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin			32		Lung NSC(55;0.159)			TGGAGTTGGCTTGGCTCCTGG	0.607000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome								Dom	yes		7	7q11.23	2006	elastin	yes	L	0							SO:0001583	missense			ENST00000252034.7	1	0	hg19	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	9.976000	1.226933	0.225420	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.55;1.56;1.53;1.52;1.52;1.51;1.55;1.56;1.54;1.54;1.53;1.55;1.55;1.54	3.570000	0.521000	0.170460	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0	T	0.34378	-0.9831	8	0.08837	T	0.75	.	3.2149	0.06695	0.0914:0.1471:0.4594:0.3021	.	497;416;473;487;503;468;483;502;478;361;408;464;497	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	V	497;497;532;416;473;503;468;464;487;502;483;361;478;497	ENSP00000389857:L497V;ENSP00000252034:L497V;ENSP00000351807:L532V;ENSP00000315607:L416V;ENSP00000392575:L473V;ENSP00000369936:L503V;ENSP00000369949:L468V;ENSP00000369958:L464V;ENSP00000403162:L487V;ENSP00000349540:L502V;ENSP00000391129:L483V;ENSP00000369926:L361V;ENSP00000369950:L478V;ENSP00000313565:L497V	ENSP00000252034:L497V	L	+	1	2	ELN	73112226	4.690000e-01	0.258460	0	0.037020	0.028000	0.117280	0.540000	0.231910	-0.267000	0.093250	-0.126000	0.149550	TTG		TCGA-IB-A5SP-01A-11D-A32N-08	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	1	0	1	286	753	0	359	1	1	3	70	0	359	2		0	0	0	0	1	2	0	1.000000	0	654	0	303	2		0	0	0	0	359	2	-11.204800	1	0	0	0		1	0	0	0	2.012507	0	0.740000	1.770000	0.716961	6.700000e-01	6.100000e-01	0.750000	0.680000	0.684213	6.700000e-01	0	6.400000e-01	0.720000
CYP11B1	1584	broad.mit.edu	37	8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	rs34620645	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1			67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)			Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTTGGGGCTGGTCCAGCGAGA	0.602000									Familial Hyperaldosteronism type I															0							SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	ENST00000292427.4	0	1	hg19	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	0.042000	-1.281373	0.013980	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.66815	-0.23;-0.23;-0.23	3.640000	0.810000	0.187320	.	1.139050	0.06616	N	0.756477	T	0.44644	0.1303	N	0.17312	0.475	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.17979	0.006;0.013;0.02	T	0.28744	-1.0034	10	0.02654	T	1	.	7.2978	0.26403	0.3297:0.0:0.6703:0.0	rs34620645	319;248;248	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	248;248;319	ENSP00000292427:T248I;ENSP00000428043:T248I;ENSP00000366903:T319I	ENSP00000292427:T248I	T	-	2	0	CYP11B1	143955156	0	0.058580	3.200000e-01	0.253060	0.198000	0.238930	0.272000	0.186440	0.339000	0.237190	-0.226000	0.123460	ACC		TCGA-IB-A5SP-01A-11D-A32N-08	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	0	0	0	8	162	0	38		0	0	0	0	38	2		0	0	0	0	0	2	0	0.089708	8	160	1	38	15		0	0	0	0	38	2	-1.842696	0	1	121410	128	41	1	1	2	3	2.250343	0	0.740000	1.770000	0.743792	1.300000e-01	6.000000e-02	1.000000	0.130000	0.167886	1.300000e-01	0	9.000000e-02	0.200000
RRS1	23212	broad.mit.edu	37	8	67341954	67341954	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)			4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		TGGCCCGCGCGCACAAGATGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000320270.2	0	1	hg19	CCDS6189.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	0	0	0	5	288	0	55	0	4.791068e-01	0	83	0	55	2		0	0	0	0	0	2	1	0.935789	5	284	0	54	2		0	0	0	0	55	2	-4.112707	1	1	0	0		1	1	2	3	2.250343	0	0.740000	1.770000	0.743792	4.000000e-02	0	1.000000	0.050000	0.082815	4.000000e-02	0	2.000000e-02	0.080000
ABCA1	19	broad.mit.edu	37	9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCTTTCCAGGGCATCAGCCAT	0.468000																								0							SO:0001583	missense			ENST00000374736.3	0	1	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.190000	2.460143	0.437360	.	.	ENSG00000165029	ENST00000374736	D	0.88664	-2.41	5.620000	5.620000	0.858410	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.33189	0.99	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.80339	-0.1424	10	0.12430	T	0.62	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	1831	O95477	ABCA1_HUMAN	V	1831	ENSP00000363868:A1831V	ENSP00000363868:A1831V	A	-	2	0	ABCA1	106596503	1	0.714170	1	0.803570	0.991000	0.796840	9.864000	0.995890	2.641000	0.895800	0.650000	0.862430	GCC		TCGA-IB-A5SP-01A-11D-A32N-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	0	0	0	6	664	0	104	0	1.205534e-03	0	5	0	104	2		0	0	0	0	0	2	1	0.963250	6	653	0	103	2		0	0	0	0	104	2	-2.345855	0	1	121412	15	46	1	1	2	3	2.224612	0	0.740000	1.770000	0.741910	2.000000e-02	0	0.060000	0.020000	0.036696	2.000000e-02	0	0	0.040000
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4			23					GCCTCTTGTGCGGCTGATGGC	0.468000																								0							SO:0001583	missense			ENST00000374198.4	0	1	hg19	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.163644	0.947270	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.820000	5.820000	0.927950	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1	0.714170	1	0.803570	0.956000	0.617450	7.378000	0.796790	2.752000	0.944350	0.655000	0.942530	GCG		TCGA-IB-A5SP-01A-11D-A32N-08	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	0	0	0	11	1795	0	418	0	7.429186e-02	0	66	0	418	2		0	0	0	0	0	2	1	0.998204	11	1775	0	413	2		0	0	0	0	418	2	-2.137060	0	1	121412	4	43	1	1	2	3	2.224612	0	0.740000	1.770000	0.741910	1.000000e-02	0	0.040000	0.020000	0.029858	1.000000e-02	0	0	0.030000
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					TCCGTTTTTGCGTCTCAGGAA	0.488000																								0							SO:0001583	missense			ENST00000350763.4	0	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	33.000000	5.217894	0.951040	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.480000	5.480000	0.808510	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.98936	4.375	0.44275	D	0.99713	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97749	1.0213	10	0.87932	D	0	.	19.3449	0.94359	0.0:1.0:0.0:0.0	.	1756;2029	E9PC84;P24821	.;TENA_HUMAN	H	1665;1574;1483;1392;2029;1847;1756;1392;1666	ENSP00000344400:R1665H;ENSP00000438152:R1574H;ENSP00000344555:R1483H;ENSP00000345861:R1392H;ENSP00000265131:R2029H;ENSP00000339553:R1847H;ENSP00000411406:R1756H;ENSP00000443478:R1392H;ENSP00000442242:R1666H	ENSP00000344400:R1665H	R	-	2	0	TNC	116831543	1	0.714170	1	0.803570	0.868000	0.497710	7.363000	0.795160	2.587000	0.873810	0.655000	0.942530	CGC		TCGA-IB-A5SP-01A-11D-A32N-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	0	6	553	0	87	0	3.329349e-02	0	22	0	87	2	0	8.132015e-01	1	908	6	2260	7	1	0.962922	7	541	0	86	2		0	0	0	0	87	2	-1.887151	0	1	0	0		1	1	2	3	2.201964	0	0.740000	1.770000	0.740958	2.000000e-02	0	0.070000	0.030000	0.032992	2.000000e-02	0	1.000000e-02	0.050000
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000376730.4	+	4	1266	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000442371.1_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2			30					GGTATGAGGTCGTTAATGGAA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000376730.4	1	1	hg19	CCDS6653.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	1	0	1	125	297	0	72	1	9.999925e-01	18	26	0	72	2		0	0	0	0	0	2	1	1.000000	124	296	0	71	2		0	0	0	0	72	2	-9.284615	1	1	0	0		1	1	2	3	2.224612	0	0.740000	1.770000	0.741910	8.000000e-01	6.800000e-01	0.940000	0.810000	0.810295	8.000000e-01	0	7.400000e-01	0.870000
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					GGGGATTGCCGCACCCCCACT	0.522000																								0							SO:0001583	missense			ENST00000376718.3	0	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851000	-0.238399	0.059440	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.080000	6.080000	0.989890	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	2.180000e-01	0.236080	7.940000e-01	0.320650	0.308000	0.278560	0.910000	0.285710	1.126000	0.420160	-0.254000	0.113340	GCG		TCGA-IB-A5SP-01A-11D-A32N-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	0	0	6	545	1	112	0	5.424425e-04	0	3	1	112	2		0	0	0	0	0	2	0	0.015201	6	539	1	112	17		0	0	0	1	112	2	-1.924413	0	1	120486	4	37	1	1	2	3	2.224612	0	0.740000	1.770000	0.741910	2.000000e-02	0	0.070000	0.030000	0.043113	2.000000e-02	0	1.000000e-02	0.050000
WWC3	55841	broad.mit.edu	37	X	10090747	10090747	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3			52					CGCTAGCCAGCGACAGTGGGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000380861.4	0	1	hg19	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	3.220000	-0.159648	0.065440	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.720000	-3.990000	0.040690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7804	15.226	0.73352	0.0:0.1046:0.0:0.8954	.	.	.	.	X	578	.	.	R	+	1	2	WWC3	10050747	9.150000e-01	0.310590	2.000000e-03	0.105220	0.277000	0.268210	-0.063000	0.116550	-0.854000	0.041310	-0.198000	0.127610	CGA		TCGA-IB-A5SP-01A-11D-A32N-08	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	0	0	7	882	0	227	0	6.497841e-03	0	13	0	227	2		0	0	0	0	0	2	1	0.979906	8	872	0	226	2		0	0	0	0	227	2	-2.538101	1	1	121412	2	43	1	0	1	1			0.740000	1.770000	0.740000	0	0	0.020000	0.010000	0.011531	0	0	0	0.020000
ZMAT1	84460	broad.mit.edu	37	X	101138639	101138639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1			22					TGAACTGACCTTGACTCTATC	0.378000																								0							SO:0001583	missense			ENST00000372782.3	1	1	hg19	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	0.008000	-1.914913	0.005030	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.48;2.48;1.9	3.750000	1.020000	0.199860	.	1.153020	0.06414	N	0.721174	T	0.06917	0.0176	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32534	-0.9903	10	0.06099	T	0.92	2.4748	7.3368	0.26615	0.0:0.6725:0.0:0.3275	.	587	Q5H9K5	ZMAT1_HUMAN	R	587;587;416	ENSP00000361868:K587R;ENSP00000437529:K587R;ENSP00000413044:K416R	ENSP00000361868:K587R	K	-	2	0	ZMAT1	101025295	0	0.058580	0	0.037020	0.299000	0.275590	0.140000	0.160560	0.077000	0.168630	-0.296000	0.095430	AAG		TCGA-IB-A5SP-01A-11D-A32N-08	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	0	0	0	7	313	0	30	0	9.561274e-03	0	6	0	30	2		0	0	0	0	0	2	1	0.980471	7	311	0	29	2		0	0	0	0	30	2	-7.676197	1	1	0	0		1	0	1	1			0.740000	1.770000	0.740000	2.000000e-02	0	0.060000	0.030000	0.033543	2.000000e-02	0	1.000000e-02	0.050000
AFF2	2334	broad.mit.edu	37	X	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				CTGAAACCTTCAATTGAATTT	0.478000																								0							SO:0001587	stop_gained			ENST00000370460.2	0	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41.000000	8.941224	0.990100	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.920000	4.890000	0.638310	.	0.113933	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8604	0.70376	0.0:0.9173:0.0:0.0827	.	.	.	.	X	308;304;304;304	.	ENSP00000345459:S304X	S	+	2	0	AFF2	147551863	9.990000e-01	0.422020	9.590000e-01	0.398830	0.949000	0.601150	4.247000	0.587500	2.492000	0.840950	0.600000	0.829820	TCA		TCGA-IB-A5SP-01A-11D-A32N-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	0	0	6	303	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.964668	6	301	0	51	2		0	0	0	0	52	2	-2.925983	1	1	0	0		1	0	1	1			0.740000	1.770000	0.740000	2.000000e-02	0	0.050000	0.030000	0.030384	2.000000e-02	0	1.000000e-02	0.040000
PTCHD1	139411	broad.mit.edu	37	X	23410819	23410819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1			42					CCTTTCACGAACATTGAGGCA	0.483000																								0							SO:0001583	missense			ENST00000379361.4	0	1	hg19	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	10.400000	1.340499	0.243390	.	.	ENSG00000165186	ENST00000379361	D	0.85088	-1.94	5.320000	5.320000	0.756190	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	L	0.31752	0.955	0.50632	D	0.999886	B	0.11235	0.004	B	0.31290	0.127	T	0.68981	-0.5266	10	0.05436	T	0.98	.	14.5355	0.67958	1.0:0.0:0.0:0.0	.	395	Q96NR3	PTHD1_HUMAN	S	395	ENSP00000368666:N395S	ENSP00000368666:N395S	N	+	2	0	PTCHD1	23320740	1	0.714170	1	0.803570	0.970000	0.659960	8.910000	0.926850	1.881000	0.544920	0.486000	0.481410	AAC		TCGA-IB-A5SP-01A-11D-A32N-08	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	0	0	0	5	264	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.935633	5	260	0	35	2		0	0	0	0	35	2	-3.306761	1	1	0	0		1	0	1	1			0.740000	1.770000	0.740000	2.000000e-02	0	0.060000	0.030000	0.029849	2.000000e-02	0	1.000000e-02	0.040000
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	p.D74D(2)		97					GTAAAAACTCGTCACGGCGAC	0.532000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000346193.3	1	1	hg19	CCDS43926.1																																																																																				TCGA-IB-A5SP-01A-11D-A32N-08	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	1	0	1	248	107	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1.000000	243	106	0	77	2		0	0	0	0	78	2	-20.000000	1	1	0	0		1	0	1	1			0.740000	1.770000	0.740000	9.300000e-01	8.700000e-01	0.990000	0.940000	0.939188	9.300000e-01	1	9.000000e-01	0.970000
