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	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
PRDM16	63976	broad.mit.edu	37	1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	932	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCAACTTCCGGTCCCCA	0.639		NA	T	EVI1	"""MDS, AML"""								False	1	False	1:3334494	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
ARID3B	10620	broad.mit.edu	37	15	74836314	74836316	+	In_Frame_Del	DEL	CAA	CAA	-	rs8043032	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:74836314_74836316delCAA	ENST00000346246.5	+	2	268_270	c.37_39delCAA	c.(37-39)caadel	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcagcaacaacagaagc	0.571		NA											False	2	True	15:74836314	0
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
TRIP12	9320	broad.mit.edu	37	2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	68					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTCGAGAATTGTCTTTCTT	0.463		NA											False	0	False	2:230724186	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
TTN	7273	broad.mit.edu	37	2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000589042.1	-	79	23224	c.23000C>T	c.(22999-23001)aCg>aTg	p.T7667M	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7350M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7350							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGATCGTAAGCAATGC	0.453		NA											False	0	False	2:179585746	0
COL6A5	256076	broad.mit.edu	37	3	130189737	130189737	+	Silent	SNP	C	C	T	rs145645992	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000265379.6	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000432398.2_Silent_p.T2500T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2500	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATATCCCACCGAAGATATGA	0.433		NA											False	0	False	3:130189737	0
FCGBP	8857	broad.mit.edu	37	19	40368706	40368706	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607		NA											False	0	True	19:40368706	0
CSMD1	64478	broad.mit.edu	37	8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000602557.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T1795M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGGGATCGTGTCGTTCCA	0.592		NA											False	0	False	8:3047451	0
GPATCH3	63906	broad.mit.edu	37	1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	302	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCATGCCGTTCCCATTCC	0.602		NA											False	0	False	1:27220874	0
TTLL8	164714	broad.mit.edu	37	22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P					tubulin tyrosine ligase-like family, member 8	NA										NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGCCCCGGGACTTGGCCGCG	0.607		NA											False	0	True	22:50472798	0
ADAM12	8038	broad.mit.edu	37	10	127755358	127755358	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCATTGCAGCAGCGATTCA	0.522		NA											False	0	False	10:127755358	0
CNTN4	152330	broad.mit.edu	37	3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	659	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACATTCACAGCGACCGTGGTG	0.498		NA											False	0	False	3:3078896	0
ATP2A2	488	broad.mit.edu	37	12	110783101	110783101	+	Silent	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000395494.2	+	17	3137	c.2574G>C	c.(2572-2574)gtG>gtC	p.V858V	ATP2A2_ENST00000539276.2_Silent_p.V885V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	885					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TTGAAGGCGTGGATTGTGCAA	0.443		NA											False	0	False	12:110783101	0
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000497424.1	+	6	1032	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|PANK2_ENST00000316562.4_Missense_Mutation_p.R532W	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532	Poly-Glu.				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388		NA											False	0	False	20:3899375	0
COG8	84342	broad.mit.edu	37	16	69368489	69368489	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:69368489G>A	ENST00000306875.4	-	3	1462	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	COG8_ENST00000562081.1_Missense_Mutation_p.R450C|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R96C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	450					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGCAGAGGCGCAGATCATTG	0.592		NA											False	0	False	16:69368489	0
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468		NA											False	0	False	10:96018889	0
TGM4	7047	broad.mit.edu	37	3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597		NA											False	0	False	3:44943132	0
PTPN14	5784	broad.mit.edu	37	1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	572	Poly-Pro.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCGTGGCCGTGGGTAGGGG	0.652		NA											False	0	False	1:214557484	0
IGHG2	0	broad.mit.edu	37	14	106110036	106110036	+	RNA	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:106110036G>A	ENST00000390545.2	-	0	581										NA											NA						ACTCCTTGCCGTTCAGCCAGT	0.582		NA											False	0	False	14:106110036	0
SORCS2	57537	broad.mit.edu	37	4	7691260	7691260	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	512						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACCCCTACGTATCAGGCA	0.592		NA											False	0	False	4:7691260	0
CHD4	1108	broad.mit.edu	37	12	6715504	6715504	+	Silent	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:6715504C>A	ENST00000309577.6	-	2	199	c.36G>T	c.(34-36)tcG>tcT	p.S12S	CHD4_ENST00000357008.2_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S|CHD4_ENST00000544484.1_Silent_p.S12S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	12					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACTGCCCGCCGAGCAGGGGG	0.672		NA											False	0	False	12:6715504	0
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478		NA											False	0	False	3:152554482	0
KMT2D	8085	broad.mit.edu	37	12	49426114	49426114	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:49426114G>A	ENST00000301067.7	-	39	12373	c.12374C>T	c.(12373-12375)tCt>tTt	p.S4125F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						TGAGGCCTCAGAAGATGATCC	0.607		NA											False	0	False	12:49426114	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATCTTCGAGCGCATCGCTGGC	0.607		NA											False	0	False	6:26200004	0
ZNF718	255403	broad.mit.edu	37	4	155843	155843	+	RNA	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:155843C>T	ENST00000510175.1	+	0	1278							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTAAAGAATGCGGGAAAGCTT	0.358		NA											False	0	True	4:155843	0
FAM208B	54906	broad.mit.edu	37	10	5791188	5791188	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:5791188A>G	ENST00000328090.5	+	15	6429	c.5804A>G	c.(5803-5805)aAa>aGa	p.K1935R		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1935											NA						AAAGAACTCAAAGATACCATG	0.517		NA											False	0	True	10:5791188	0
OR2C3	81472	broad.mit.edu	37	1	247695055	247695055	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547		NA											False	0	True	1:247695055	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512		NA											False	0	False	7:144060770	0
CPT1A	1374	broad.mit.edu	37	11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	284					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433		NA											False	0	False	11:68562300	0
CRIPAK	285464	broad.mit.edu	37	4	1388986	1388986	+	Silent	SNP	G	G	A	rs71299249		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:1388986G>A	ENST00000324803.4	+	1	3647	c.687G>A	c.(685-687)ccG>ccA	p.P229P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	229					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGGAGTGCCCGCCTGCTCACA	0.672		NA											False	0	True	4:1388986	0
FNDC7	163479	broad.mit.edu	37	1	109270590	109270590	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	425	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCACCCTTTCGGCTCTAGAGT	0.483		NA											False	0	False	1:109270590	0
KRT32	3882	broad.mit.edu	37	17	39619177	39619177	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	374	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTGGTTCTGCCGCTCCAGGT	0.647		NA											False	0	False	17:39619177	0
SLC8A3	6547	broad.mit.edu	37	14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	54					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACCCTCCTTGCAGTCCGATG	0.542		NA											False	0	False	14:70634978	0
SCAND3	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	407	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373		NA											False	0	False	6:28543263	0
TAF5L	27097	broad.mit.edu	37	1	229730353	229730353	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000258281.2	-	5	1626	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000366676.1_Silent_p.G487G	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	487					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGGTCCTCGCCAGCAGACG	0.577		NA											False	0	False	1:229730353	0
HS3ST4	9951	broad.mit.edu	37	16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAACCCGAGATCCCCACCTT	0.542		NA											False	0	False	16:26147120	0
SGOL2	151246	broad.mit.edu	37	2	201437658	201437658	+	Silent	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	863					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.Q863H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGAATTTCAAACAGTTGATC	0.318		NA											False	0	True	2:201437658	0
MUSK	4593	broad.mit.edu	37	9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000416899.2	+	1	184	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000374448.4_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438		NA											False	0	False	9:113431242	0
USP37	57695	broad.mit.edu	37	2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	890					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTGATGAGCCGGTACGAATG	0.353		NA											False	0	False	2:219321859	0
TNPO2	30000	broad.mit.edu	37	19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000425528.1	-	6	703	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Missense_Mutation_p.A116T			O14787	TNPO2_HUMAN	transportin 2	116					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTTGGAAGCGATGGTGGTG	0.632		NA											False	0	False	19:12826533	0
CCT6P3	0	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs137873032	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:64530103G>A	ENST00000426828.1	+	0	923					NR_033416.1					NA											NA						TGACTGCTTGGGACATGCAGG	0.388		NA											False	0	True	7:64530103	0
ZNF254	9534	broad.mit.edu	37	19	24309874	24309874	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309874G>T	ENST00000357002.4	+	4	1187	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	358					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAAGCTTTTAGCCA	0.398		NA											False	0	True	19:24309874	0
CYLC1	1538	broad.mit.edu	37	X	83129622	83129622	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	636	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCTCCAAAACCAAGATATGC	0.383		NA											False	0	True	X:83129622	0
DRD5	0	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCAGCGTGGACCGCTACTGG	0.612		NA											False	0	False	4:9784063	0
SRRT	51593	broad.mit.edu	37	7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:100484755C>T	ENST00000388793.4	+	15	2126	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	637					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572		NA											False	0	True	7:100484755	0
LRRC27	80313	broad.mit.edu	37	10	134165170	134165170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000392638.2	+	8	1276	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A329V			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522		NA											False	0	False	10:134165170	0
ARHGEF17	9828	broad.mit.edu	37	11	73067381	73067381	+	Silent	SNP	C	C	T	rs113094822		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1275					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGCTCACATCGAGGGCATGG	0.647		NA											False	0	False	11:73067381	0
LAMP2	0	broad.mit.edu	37	X	119575595	119575595	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000371335.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000200639.4_Silent_p.K361K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000540603.1_Silent_p.K314K	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	361	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGTAGAATACTTTCCTTGTG	0.343		NA											False	0	True	X:119575595	0
HTR2C	3358	broad.mit.edu	37	X	114141583	114141583	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	328					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403		NA											False	0	True	X:114141583	0
CES1	1066	broad.mit.edu	37	16	55860205	55860205	+	Missense_Mutation	SNP	C	C	A	rs5023782		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:55860205C>A	ENST00000422046.2	-	3	541	c.260G>T	c.(259-261)tGc>tTc	p.C87F	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000361503.4_Missense_Mutation_p.C87F			P23141	EST1_HUMAN	carboxylesterase 1	87					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.C88Y(1)			NA				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ATCTTGGGTGCACCTGGGGAG	0.502		NA											False	0	False	16:55860205	0
AQP9	366	broad.mit.edu	37	15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G	rs76614170	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|AQP9_ENST00000536493.1_Missense_Mutation_p.L264V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	264					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATCTATGTTCTTGTCATTGA	0.433		NA											False	0	False	15:58476236	0
BRINP1	1620	broad.mit.edu	37	9	121929760	121929760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:121929760G>A	ENST00000265922.3	-	8	2349	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	630											NA						GTCTCATTTCGCAGTAGGGTA	0.537		NA											False	0	False	9:121929760	0
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000448116.2	-	4	956	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552		NA											False	0	False	1:154940985	0
FUBP1	8880	broad.mit.edu	37	1	78430650	78430650	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370767.1	-	9	727	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000370768.2_Silent_p.R214R|FUBP1_ENST00000436586.2_Silent_p.R235R			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	214	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTCCAGCCCGTTCCTGTTAC	0.358		NA	"""F, N"""		oligodendroglioma								False	0	True	1:78430650	0
RXRG	6258	broad.mit.edu	37	1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	399	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522		NA											False	0	False	1:165376097	0
BCL6	604	broad.mit.edu	37	3	187447157	187447157	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:187447157C>T	ENST00000406870.2	-	5	1402	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	346					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCAGGACTCTGTGGGCGAG	0.587		NA	"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								False	0	False	3:187447157	0
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438		NA											False	0	True	6:105573335	0
PAQR3	152559	broad.mit.edu	37	4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCATTGCTGCGTGAGGTAATT	0.458		NA											False	0	False	4:79847790	0
KRT76	51350	broad.mit.edu	37	12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	358	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R358H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACTGGGCGCGGACCTCGGC	0.587		NA											False	0	False	12:53165942	0
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	G	T	rs140242525		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:43924970G>T	ENST00000396879.1	-	12	1447	c.1335C>A	c.(1333-1335)tcC>tcA	p.S445S	CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.S447S|CATSPER2_ENST00000354127.4_Silent_p.S445S|CATSPER2_ENST00000381761.1_Silent_p.S451S	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	447	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.378		NA											False	0	False	15:43924970	0
TRAPPC12	51112	broad.mit.edu	37	2	3392315	3392315	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:3392315C>T	ENST00000324266.5	+	2	1116	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TRAPPC12_ENST00000382110.2_Silent_p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	307							binding				NA						ACCGGAGGAACGACGCCTGGC	0.677		NA											False	0	False	2:3392315	0
SLC16A11	162515	broad.mit.edu	37	17	6945697	6945697	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	268						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGTCTAAAGCGTGGGGAGCCA	0.672		NA											False	0	False	17:6945697	0
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000299092.3	-	4	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W|RP11-37C7.1_ENST00000558616.1_RNA	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512		NA											False	0	False	15:40093386	0
COL24A1	255631	broad.mit.edu	37	1	86590618	86590618	+	Silent	SNP	A	A	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATAAAGCTCAGTTTCATAGC	0.373		NA											False	0	False	1:86590618	0
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393		NA											False	0	False	19:24309885	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			False	0	False	17:7578394	0
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547		NA											False	0	False	2:71906211	0
RIMBP3	85376	broad.mit.edu	37	22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E		NM_015672.1	NP_056487.1			RIMS binding protein 3	NA										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCTCTTCACCCCCAGAGCTTG	0.632		NA											False	0	True	22:20457064	0
PDZRN3	23024	broad.mit.edu	37	3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTCGGATGCGCCCATCCTT	0.468		NA											False	0	False	3:73438995	0
SDS	10993	broad.mit.edu	37	12	113831803	113831803	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	224					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGTCTTCACGCCCAGGGCCT	0.577		NA											False	0	True	12:113831803	0
SNRNP200	23020	broad.mit.edu	37	2	96969044	96969044	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:96969044C>T	ENST00000323853.5	-	3	311	c.234G>A	c.(232-234)cgG>cgA	p.R78R	SNRNP200_ENST00000349783.5_Silent_p.R78R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	78						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGATGTCATGCCGGTCCTCAT	0.498		NA											False	0	False	2:96969044	0
ACTR8	93973	broad.mit.edu	37	3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	409					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATCTGTGCTGCAAAGTCGTC	0.463		NA											False	0	False	3:53906488	0
MAP2	4133	broad.mit.edu	37	2	210560818	210560818	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1308					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGTCCCACAGCGTGCGTTTTG	0.507		NA											False	0	True	2:210560818	0
CTSD	1509	broad.mit.edu	37	11	1776217	1776217	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:1776217C>T	ENST00000236671.2	-	6	878	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	249					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGTCTGTGCCACCCAGCAT	0.602		NA											False	0	False	11:1776217	0
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507		NA											False	0	True	3:140397090	0
VPS13A	23230	broad.mit.edu	37	9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3129					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGAAGATTGCGCATTGAAGC	0.343		NA											False	0	False	9:80020889	0
DNMT3A	1788	broad.mit.edu	37	2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	118					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCCCTCTGCTGGG	0.657		NA	"""Mis, F, N, S"""		AML								False	0	True	2:25505406	0
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000382009.3	+	12	2093	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000467011.1_Missense_Mutation_p.R514H	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597		NA											False	0	False	4:27019384	0
ASIC1	41	broad.mit.edu	37	12	50471790	50471790	+	Silent	SNP	G	G	A	rs149521223		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:50471790G>A	ENST00000228468.4	+	5	1102	c.717G>A	c.(715-717)acG>acA	p.T239T	ASIC1_ENST00000552438.1_Silent_p.T273T|ASIC1_ENST00000447966.2_Silent_p.T239T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	239					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding				NA					Amiloride(DB00594)	TAGACGAGACGTCCTTCGAAG	0.567		NA											False	0	True	12:50471790	0
TRPV4	59341	broad.mit.edu	37	12	110234507	110234507	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000346520.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	385				I -> V (in Ref. 1; AAG28029).	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGCTGAAAGATCTGCACAG	0.612		NA											False	0	True	12:110234507	0
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532		NA											False	0	False	13:58299162	0
CNPY4	245812	broad.mit.edu	37	7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	131						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGAAGGGGGTGAAGGTGGA	0.557		NA											False	0	True	7:99720455	0
CDH18	1016	broad.mit.edu	37	5	19839078	19839078	+	Silent	SNP	T	T	A	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2	6					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGATGCAAGATGTGCTAGTAA	0.428		NA											False	0	False	5:19839078	0
SATL1	340562	broad.mit.edu	37	X	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000509231.1	-	1	1709	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	SATL1_ENST00000395409.3_Nonsense_Mutation_p.R357*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	357							N-acetyltransferase activity	p.R544R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTAATCAGTCGCAAAATTTCT	0.458		NA											False	0	False	X:84362345	0
IGHM	0	broad.mit.edu	37	14	106320735	106320735	+	RNA	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:106320735C>T	ENST00000390559.2	-	0	1074										NA											NA						AAGACGTCCGCGGGAGAGAAG	0.672		NA											False	0	True	14:106320735	0
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	rs149760238	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622		NA											False	0	True	9:33385626	0
RNF34	80196	broad.mit.edu	37	12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000361234.5	+	3	521	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Nonsense_Mutation_p.R117*|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	117	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	p.R118*(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCAGTTAATGCGACTGAAGGT	0.428		NA											False	0	False	12:121855430	0
MYH3	4621	broad.mit.edu	37	17	10555805	10555805	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:10555805G>T	ENST00000583535.1	-	4	367	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	94	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGTGCGTCAGCATGGCCATG	0.537		NA											False	0	False	17:10555805	0
DOCK1	1793	broad.mit.edu	37	10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1462	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCGAGAGAACCATATATACA	0.448		NA											False	0	False	10:129213435	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4	NA								p.L29L(1)			NA						TCAATATGAACTGATCTGTAT	0.378		NA											False	0	False	3:132319326	0
SETD5	55209	broad.mit.edu	37	3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000402466.1	+	17	2753	c.1985C>A	c.(1984-1986)tCa>tAa	p.S662*	SETD5_ENST00000406341.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	760										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CGCTTTGGCTCACCCTTTATC	0.483		NA											False	0	False	3:9490247	0
