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
MUC5AC	4586	broad.mit.edu	37	11	1157562	1157563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:1157562_1157563insT	ENST00000356191.2	+	12	733_734	c.733_734insT	c.(733-735)gtcfs	p.V245fs						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACGGAGCAGTGTCAGGACCCTG	0.619		NA											False	1	False	11:1157562	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
RBL2	5934	broad.mit.edu	37	16	53488732	53488733	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:53488732_53488733insA	ENST00000262133.6	+	8	1294_1295	c.1157_1158insA	c.(1156-1161)atcttafs	p.IL386fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Ins_p.IL170fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	386					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGAAAAACATCTTACAGCAGC	0.441		NA											False	0	False	16:53488732	0
RBL2	5934	broad.mit.edu	37	16	53488733	53488734	+	In_Frame_Ins	INS	-	-	TCCTCATAGGCCTTATTGATGGCT			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:53488733_53488734insTCCTCATAGGCCTTATTGATGGCT	ENST00000262133.6	+	8	1295_1296	c.1158_1159insTCCTCATAGGCCTTATTGATGGCT	c.(1159-1161)tta>TCCTCATAGGCCTTATTGATGGCTtta	p.386_387insSS*ALLMA	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_In_Frame_Ins_p.170_171insSS*ALLMA	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	386					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAAAAACATCTTACAGCAGCA	0.441		NA											False	0	False	16:53488733	0
TP53	7157	broad.mit.edu	37	17	7579320	7579321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7579320_7579321insC	ENST00000420246.2	-	4	498_499	c.366_367insG	c.(364-369)gtgactfs	p.T123fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	123	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> I (in a sporadic cancer; somatic mutation).|T -> N (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.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		ACCGTGCAAGTCACAGACTTGG	0.55		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	1	False	17:7579320	0
IFNL1	282618	broad.mit.edu	37	19	39787103	39787117	+	In_Frame_Del	DEL	AGGCTTGGCCGTGGC	AGGCTTGGCCGTGGC	-			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	AGGCTTGGCCGTGGC	AGGCTTGGCCGTGGC	-	-	AGGCTTGGCCGTGGC	AGGCTTGGCCGTGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:39787103_39787117delAGGCTTGGCCGTGGC	ENST00000333625.2	+	1	139_153	c.42_56delAGGCTTGGCCGTGGC	c.(40-57)ctaggcttggccgtggca>cta	p.GLAVA15del		NM_172140.1	NP_742152.1			interferon, lambda 1	NA											NA						CTTTGGTGCTAGGCTTGGCCGTGGCAGGCCCTGTC	0.577		NA											False	1	False	19:39787103	0
hsa-mir-125a	0	broad.mit.edu	37	19	52196115	52196116	+	RNA	INS	-	-	GGCTGCGCCCTGCAC			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:52196115_52196116insGGCTGCGCCCTGCAC	ENST00000602324.1	-	0	593_594				MIRLET7E_ENST00000362102.1_RNA	NR_029482.1|NR_029693.1					NA											NA						AGCTTTCCCCAGGCTGCGCCCT	0.693		NA											False	0	False	19:52196115	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
HIST1H1B	3009	broad.mit.edu	37	6	27834834	27834845	+	In_Frame_Del	DEL	CTTCTTCGGAGT	CTTCTTCGGAGT	-	rs143393068	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CTTCTTCGGAGT	CTTCTTCGGAGT	-	-	CTTCTTCGGAGT	CTTCTTCGGAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:27834834_27834845delCTTCTTCGGAGT	ENST00000331442.3	-	1	514_525	c.463_474delACTCCGAAGAAG	c.(463-474)actccgaagaagdel	p.TPKK155del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	155					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT	0.599		NA											False	1	False	6:27834834	0
PHF3	23469	broad.mit.edu	37	6	64401799	64401800	+	In_Frame_Ins	INS	-	-	ATA			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:64401799_64401800insATA	ENST00000262043.3	+	5	2702_2703	c.2362_2363insATA	c.(2362-2364)caa>cATAaa	p.788_788Q>HK	PHF3_ENST00000393387.1_In_Frame_Ins_p.788_788Q>HK			Q92576	PHF3_HUMAN	PHD finger protein 3	788					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTGGAAAACCAAGCTACAGTT	0.351		NA											False	0	False	6:64401799	0
PABPC1	26986	broad.mit.edu	37	8	101719224	101719225	+	Splice_Site	INS	-	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	ENST00000318607.5	-	10	2465_2466	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa	p.-446fs	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs|PABPC1_ENST00000522387.1_Splice_Site_p.-414fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	NA					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TATTTTGGAATGCTGCATTTTA	0.416		NA											False	0	False	8:101719224	0
DNAH2	146754	broad.mit.edu	37	17	7727588	7727588	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7727588C>T	ENST00000572933.1	+	76	13088	c.11628C>T	c.(11626-11628)atC>atT	p.I3876I	DNAH2_ENST00000389173.2_Silent_p.I3876I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3876	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCCCCATCGCTGCTCGGC	0.652		NA											False	0	False	17:7727588	0
DCAF6	55827	broad.mit.edu	37	1	167960489	167960489	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:167960489C>T	ENST00000367840.3	+	6	694	c.600C>T	c.(598-600)tgC>tgT	p.C200C	DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000312263.6_Silent_p.C200C|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	200					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTGCTATTTGCCCACCAATAC	0.393		NA											False	0	True	1:167960489	0
CROCC	9696	broad.mit.edu	37	1	17266463	17266463	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	561					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692		NA											False	0	True	1:17266463	0
TNPO1	3842	broad.mit.edu	37	5	72179007	72179007	+	Missense_Mutation	SNP	T	T	A	rs1057846		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:72179007T>A	ENST00000337273.5	+	11	1524	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	TNPO1_ENST00000506351.2_Missense_Mutation_p.D358E|TNPO1_ENST00000454282.1_Missense_Mutation_p.D316E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D316E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	366	Asp/Glu-rich (acidic).				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGAGGAAgatgatgatgatg	0.408		NA											False	0	True	5:72179007	0
ZSWIM8	23053	broad.mit.edu	37	10	75559013	75559013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:75559013C>T	ENST00000604729.1	+	21	4727	c.4430C>T	c.(4429-4431)gCg>gTg	p.A1477V	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1439V|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.A1472V|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1477V|NDST2_ENST00000456638.1_Intron					zinc finger, SWIM-type containing 8	NA											NA						ACAGTGGCAGCGGCAGCAGTG	0.647		NA											False	0	True	10:75559013	0
MUS81	80198	broad.mit.edu	37	11	65630663	65630663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:65630663G>A	ENST00000308110.4	+	7	1082	c.733G>A	c.(733-735)Gct>Act	p.A245T	MUS81_ENST00000533035.1_Missense_Mutation_p.A170T	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	245					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCCAGGAGCAGCTTCAGCAGA	0.637		NA						Homologous recombination					False	0	False	11:65630663	0
LTB4R2	56413	broad.mit.edu	37	14	24780173	24780173	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:24780173C>T	ENST00000528054.1	+	1	2013	c.396C>T	c.(394-396)tgC>tgT	p.C132C	LTB4R2_ENST00000533293.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	132					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACTACGTGTGCGCGCTCAGCA	0.721		NA											False	0	True	14:24780173	0
GLMN	11146	broad.mit.edu	37	1	92755861	92755861	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:92755861T>A	ENST00000370360.3	-	5	369	c.288A>T	c.(286-288)ttA>ttT	p.L96F	GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	96					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGATTGCATAACTATAAAA	0.308		NA							Multiple Glomus Tumors (of the Skin), Familial				False	0	False	1:92755861	0
SLX4	84464	broad.mit.edu	37	16	3652237	3652237	+	Missense_Mutation	SNP	G	G	A	rs141597706	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:3652237G>A	ENST00000294008.3	-	4	1472	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	278	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R278W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTCCTACCCGTGCAAACTCC	0.562		NA						Direct reversal of damage					False	0	True	16:3652237	0
ADAM2	2515	broad.mit.edu	37	8	39646232	39646232	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:39646232C>A	ENST00000265708.4	-	8	701	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	200	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGAGCGACAACAGTTGTATCA	0.274		NA											False	0	False	8:39646232	0
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502		NA											False	0	True	4:188924640	0
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662		NA											False	0	True	17:40714771	0
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602		NA											False	0	False	14:71209085	0
DHX8	1659	broad.mit.edu	37	17	41570293	41570293	+	Missense_Mutation	SNP	C	C	T	rs146727331		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:41570293C>T	ENST00000262415.3	+	6	820	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	250						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGATAGATGGCGGGATAAGCA	0.507		NA											False	0	True	17:41570293	0
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647		NA											False	0	False	1:33745956	0
P2RY12	0	broad.mit.edu	37	3	151055628	151055628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:151055628G>A	ENST00000302632.3	-	3	1305	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	336					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCTTCATTTGGGTCACCACCA	0.368		NA											False	0	True	3:151055628	0
DIP2A	23181	broad.mit.edu	37	21	47976980	47976980	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:47976980C>T	ENST00000318711.7	+	30	3813	c.3630C>T	c.(3628-3630)tgC>tgT	p.C1210C	DIP2A_ENST00000400274.1_Silent_p.C1205C|DIP2A_ENST00000417564.2_Silent_p.C1209C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1209					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTGTCTGTGCAGGTGAGTGC	0.612		NA											False	0	False	21:47976980	0
PREX1	57580	broad.mit.edu	37	20	47262580	47262580	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:47262580G>A	ENST00000396220.1	-	26	3343	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	PREX1_ENST00000371941.3_Silent_p.I1107I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1107					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGGCTCTGTGATGGTGGACA	0.597		NA											False	0	False	20:47262580	0
ZNF718	255403	broad.mit.edu	37	4	155929	155929	+	RNA	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:155929G>A	ENST00000510175.1	+	0	1364							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)		GAAGAATGTGGGAGCCTTTAA	0.358		NA											False	0	True	4:155929	0
CHRNA7	1139	broad.mit.edu	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716		NA											False	0	True	15:32460285	0
CELA3A	10136	broad.mit.edu	37	1	22333991	22333991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:22333991A>G	ENST00000290122.3	+	6	644	c.625A>G	c.(625-627)Atc>Gtc	p.I209V		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAGGGTACATCCGCTCCGG	0.617		NA											False	0	False	1:22333991	0
PLCL2	23228	broad.mit.edu	37	3	17052241	17052241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:17052241G>A	ENST00000418129.2	+	2	1490	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	468					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGGGTTGCCGGAGTGTTGAA	0.423		NA											False	0	False	3:17052241	0
ACOT1	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:74004293C>T	ENST00000311148.4	+	1	476	c.168C>T	c.(166-168)acC>acT	p.T56T	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Silent_p.T56T	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1	NA										endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GCGCCGACACCCTTGGCGAGC	0.746		NA											False	0	True	14:74004293	0
TOX4	9878	broad.mit.edu	37	14	21961173	21961173	+	Silent	SNP	T	T	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:21961173T>C	ENST00000405508.1	+	8	1674	c.1398T>C	c.(1396-1398)ccT>ccC	p.P466P	TOX4_ENST00000448790.2_Silent_p.P443P|TOX4_ENST00000262709.3_Silent_p.P466P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	466	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGCAGCAGCCTCCTCCACTCC	0.552		NA											False	0	False	14:21961173	0
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458		NA											False	0	True	3:154055947	0
MARCH5	54708	broad.mit.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353		NA											False	0	False	10:94110927	0
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	742					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393		NA											False	0	False	7:20793112	0
TANC2	26115	broad.mit.edu	37	17	61483573	61483573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:61483573G>A	ENST00000424789.2	+	19	3306	c.3302G>A	c.(3301-3303)cGc>cAc	p.R1101H	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1101							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAGCAGGGCCGCACTCCCCTG	0.512		NA									OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:61483573	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_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
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167										NA											NA						AGGTTCTTGCGCAGAATTCTG	0.383		NA											False	0	False	7:65226641	0
SLC18A3	6572	broad.mit.edu	37	10	50819803	50819803	+	Silent	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50819803G>T	ENST00000374115.3	+	1	1457	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	339					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCCTCATGTGCTGGGCGTCT	0.667		NA											False	0	False	10:50819803	0
YLPM1	56252	broad.mit.edu	37	14	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:75276279G>A	ENST00000325680.7	+	7	4842	c.4718G>A	c.(4717-4719)cGa>cAa	p.R1573Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.R867Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1378	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAGGAACGATGGGATGAA	0.478		NA											False	0	False	14:75276279	0
OCA2	4948	broad.mit.edu	37	15	28211955	28211955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28211955G>A	ENST00000354638.3	-	15	1672	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	OCA2_ENST00000353809.5_Missense_Mutation_p.A482V|OCA2_ENST00000382996.2_Missense_Mutation_p.A506V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	506					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGTGAATCCGGCAAAGTCCAG	0.507		NA							Oculocutaneous Albinism				False	0	False	15:28211955	0
TPTE2P6	0	broad.mit.edu	37	13	25171599	25171599	+	RNA	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:25171599C>T	ENST00000453498.1	+	0	1495										NA											NA						CCAGAATTTGCCGTGGAGATA	0.353		NA											False	0	False	13:25171599	0
TBC1D1	23216	broad.mit.edu	37	4	38023260	38023260	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:38023260G>T	ENST00000261439.4	+	6	1486	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	377	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCGCAGTGCAGCAGACAGCTA	0.517		NA											False	0	False	4:38023260	0
PDCD1LG2	80380	broad.mit.edu	37	9	5535034	5535034	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:5535034G>A	ENST00000397747.3	+	3	593	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PDCD1LG2_ENST00000397745.2_Silent_p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	115	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ACAAGTACCTGACTCTGAAAG	0.483		NA											False	0	False	9:5535034	0
TUBA4B	0	broad.mit.edu	37	2	220136184	220136184	+	RNA	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:220136184C>T	ENST00000490341.1	+	0	654					NR_003063.1					NA											NA						GCCCAACCTACACCAACCTCA	0.537		NA											False	0	False	2:220136184	0
CD86	942	broad.mit.edu	37	3	121822466	121822466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:121822466C>T	ENST00000330540.2	+	3	288	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	58	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTATTTTGGCAGGACCAGGA	0.418		NA											False	0	False	3:121822466	0
RUNX3	864	broad.mit.edu	37	1	25254076	25254076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:25254076C>T	ENST00000399916.1	-	3	908	c.470G>A	c.(469-471)cGc>cAc	p.R157H	RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R143H	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	143	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCGCCCACTGCGGCCCACGAA	0.597		NA											False	0	False	1:25254076	0
PRSS55	203074	broad.mit.edu	37	8	10383123	10383123	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:10383123C>T	ENST00000328655.3	+	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	10					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GTTGCTGCTCCTGTCCCTGGT	0.672		NA											False	0	False	8:10383123	0
CSMD2	114784	broad.mit.edu	37	1	34276462	34276462	+	Missense_Mutation	SNP	C	C	T	rs61771030		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:34276462C>T	ENST00000373381.4	-	10	1504	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	CSMD2_ENST00000338325.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	403	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCACACATGCGGGCTGCAGA	0.527		NA											False	0	True	1:34276462	0
CDCA2	157313	broad.mit.edu	37	8	25317954	25317954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:25317954C>T	ENST00000330560.3	+	3	593	c.116C>T	c.(115-117)gCc>gTc	p.A39V	CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	39					cell division|mitosis	cytoplasm|nucleus		p.A39V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAGAAGCATGCCGAATTACCT	0.428		NA											False	0	False	8:25317954	0
KLK4	9622	broad.mit.edu	37	19	51411880	51411880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:51411880C>T	ENST00000324041.1	-	3	429	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	144	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GAGTTCCCCGCGGTAGGGCAC	0.602		NA											False	0	False	19:51411880	0
CHMP4C	92421	broad.mit.edu	37	8	82670525	82670525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:82670525G>A	ENST00000297265.4	+	4	825	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	211	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CGTCGATCCCGAGCAGGTCTG	0.458		NA											False	0	True	8:82670525	0
TTBK1	84630	broad.mit.edu	37	6	43222815	43222815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43222815C>T	ENST00000259750.4	+	7	688	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	202	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTTCGAGGAACGGTTCGCTAT	0.617		NA											False	0	False	6:43222815	0
BACH1	571	broad.mit.edu	37	21	30699086	30699086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:30699086C>T	ENST00000399921.1	+	3	1184	c.941C>T	c.(940-942)tCc>tTc	p.S314F	BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	314			S -> P (in dbSNP:rs35474725).			nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACAATTCTTCCATAGACCCT	0.388		NA											False	0	False	21:30699086	0
STIP1	10963	broad.mit.edu	37	11	63971050	63971050	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63971050C>T	ENST00000358794.5	+	13	2209	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	STIP1_ENST00000538945.1_Silent_p.R481R|STIP1_ENST00000305218.4_Silent_p.R505R			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	505					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGCCATGCGCCTTATCCTGG	0.582		NA											False	0	False	11:63971050	0
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507		NA											False	0	False	16:70908762	0
SLC12A3	0	broad.mit.edu	37	16	56920974	56920974	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:56920974A>G	ENST00000438926.2	+	17	2176	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D716G	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	716					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATTGCCGAGGACCTCCGCAGA	0.582		NA											False	0	False	16:56920974	0
TTN	7273	broad.mit.edu	37	2	179407109	179407109	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:179407109C>T	ENST00000589042.1	-	349	97598	c.97374G>A	c.(97372-97374)acG>acA	p.T32458T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T30817T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.T23518T|TTN_ENST00000342992.6_Silent_p.T29890T|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30817							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)			TAAACTTAAACGTGGACCTAG	0.502		NA											False	0	True	2:179407109	0
TGFBR1	7046	broad.mit.edu	37	9	101907091	101907091	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:101907091G>C	ENST00000374994.4	+	6	1168	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	351	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGTATTGCAGACTTAGGACT	0.358		NA											False	0	False	9:101907091	0
L2HGDH	79944	broad.mit.edu	37	14	50704423	50704423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:50704423G>A	ENST00000261699.4	-	10	1234	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L				Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	401					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TAGCCAGCTCGGTCCTCTCAC	0.517		NA											False	0	False	14:50704423	0
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:75118049G>A	ENST00000290573.2	+	18	3335	c.2735G>A	c.(2734-2736)cGt>cAt	p.R912H	HK2_ENST00000409174.1_Missense_Mutation_p.R884H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542		NA											False	0	False	2:75118049	0
GRM6	2916	broad.mit.edu	37	5	178413350	178413350	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:178413350G>A	ENST00000231188.5	-	8	2083	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	GRM6_ENST00000517717.1_Silent_p.Y635Y|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	635					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGTGATGGCGTAGATGAGGA	0.672		NA											False	0	False	5:178413350	0
MROH2B	133558	broad.mit.edu	37	5	41065559	41065559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:41065559C>A	ENST00000399564.4	-	4	685	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B	NA											NA						GACACCAAAACCTCACCAGCT	0.418		NA											False	0	True	5:41065559	0
ACR	49	broad.mit.edu	37	22	51182600	51182600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:51182600C>T	ENST00000216139.5	+	4	717	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	226	Peptidase S1.			A -> V (in Ref. 3).	acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AATGTGTGCGCGGGGTATCCT	0.577		NA											False	0	True	22:51182600	0
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					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						CCAGAGGATGCCGCTCCTTCT	0.498		NA											False	0	False	9:113547892	0
ITGA2	3673	broad.mit.edu	37	5	52356793	52356793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:52356793G>A	ENST00000296585.5	+	12	1518	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	459					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGCTCCTCGGGCAAATTATAC	0.443		NA											False	0	True	5:52356793	0
WHSC1L1	54904	broad.mit.edu	37	8	38205614	38205614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:38205614C>T	ENST00000317025.8	-	2	593	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	26					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CGGATGTTGGCGGAGTCAATG	0.453		NA	T	NUP98	AML								False	0	False	8:38205614	0
HECW2	57520	broad.mit.edu	37	2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:197187274C>T	ENST00000260983.2	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	271	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423		NA											False	0	False	2:197187274	0
PCSK7	9159	broad.mit.edu	37	11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627		NA	T	IGH@	MLCLS								False	0	False	11:117090363	0
DET1	55070	broad.mit.edu	37	15	89070834	89070834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:89070834G>A	ENST00000564406.1	-	4	1460	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	DET1_ENST00000268148.8_Missense_Mutation_p.R423C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	423						nucleus		p.R434C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTTACCGGCGCTGGATCTGC	0.443		NA											False	0	False	15:89070834	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582		NA											False	0	True	X:112058796	0
EPHB1	2047	broad.mit.edu	37	3	134884864	134884864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:134884864C>T	ENST00000398015.3	+	8	2010	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	547						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCTCGGCAGCGGCCGGGGTC	0.567		NA											False	0	False	3:134884864	0
CPVL	54504	broad.mit.edu	37	7	29132283	29132283	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:29132283G>A	ENST00000409850.1	-	10	1144	c.498C>T	c.(496-498)caC>caT	p.H166H	CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	166					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGCATATCCGTGGGTATCAT	0.443		NA											False	0	False	7:29132283	0
PSG6	5675	broad.mit.edu	37	19	43420517	43420517	+	Missense_Mutation	SNP	T	T	C	rs140507212		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:43420517T>C	ENST00000187910.2	-	2	252	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG6_ENST00000402603.4_Missense_Mutation_p.T63A|PSG6_ENST00000292125.2_Missense_Mutation_p.T63A|PSG6_ENST00000601833.1_5'UTR	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.463		NA											False	0	False	19:43420517	0
LRP1	4035	broad.mit.edu	37	12	57554894	57554894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:57554894G>A	ENST00000243077.3	+	13	2664	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	733					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACAGACCGGAAGGTGGGC	0.582		NA											False	0	False	12:57554894	0
HMG20B	10362	broad.mit.edu	37	19	3574395	3574395	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:3574395C>T	ENST00000333651.6	+	4	237	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	54					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGAAACGCGGCTGGCCCA	0.672		NA											False	0	False	19:3574395	0
ZMAT4	79698	broad.mit.edu	37	8	40532370	40532370	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:40532370C>G	ENST00000297737.6	-	5	576	c.430G>C	c.(430-432)Gac>Cac	p.D144H	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	144						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CAGTATCTGTCTGAATCTCTT	0.507		NA											False	0	True	8:40532370	0
LRRC55	219527	broad.mit.edu	37	11	56950145	56950145	+	Missense_Mutation	SNP	C	C	T	rs143027441	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:56950145C>T	ENST00000497933.1	+	1	925	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.					integral to membrane		p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGATCCAGCGCTGTACAGC	0.607		NA											False	0	False	11:56950145	0
SLAIN2	57606	broad.mit.edu	37	4	48379970	48379970	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:48379970C>G	ENST00000264313.6	+	3	1014	c.596C>G	c.(595-597)cCt>cGt	p.P199R	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	199						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TACACCAGTCCTTACAGTCCA	0.413		NA											False	0	False	4:48379970	0
CLSTN2	64084	broad.mit.edu	37	3	140178467	140178467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:140178467G>A	ENST00000458420.3	+	7	1268	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	360					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAGTTTGACGGCAGGCAGGG	0.572		NA								HNSCC(16;0.037)			False	0	True	3:140178467	0
DDX55	57696	broad.mit.edu	37	12	124090516	124090516	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:124090516C>T	ENST00000238146.4	+	2	197	c.147C>T	c.(145-147)gtC>gtT	p.V49V	DDX55_ENST00000538744.1_Silent_p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	49	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACAAAGATGTCGCTGCAGAAG	0.498		NA											False	0	False	12:124090516	0
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.T839M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527		NA											False	0	False	10:105182763	0
SPTA1	6708	broad.mit.edu	37	1	158585164	158585164	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:158585164C>T	ENST00000368148.3	-	48	6810	c.6630G>A	c.(6628-6630)aaG>aaA	p.K2210K	SPTA1_ENST00000368147.3_Silent_p.K2207K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2210					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGTTGACGCTTCATCGCCT	0.483		NA											False	0	False	1:158585164	0
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552		NA											False	0	False	1:237729947	0
CTNNA3	29119	broad.mit.edu	37	10	68940134	68940134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:68940134C>T	ENST00000433211.1	-	7	1162	c.988G>A	c.(988-990)Gca>Aca	p.A330T	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	330					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGCATTCTGCGATAATCCGC	0.527		NA											False	0	False	10:68940134	0
HEATR1	55127	broad.mit.edu	37	1	236762848	236762848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:236762848G>A	ENST00000366582.3	-	4	550	c.436C>T	c.(436-438)Cga>Tga	p.R146*	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	146					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTATGACTCGCACAAATATT	0.368		NA											False	0	False	1:236762848	0
POU2AF1	5450	broad.mit.edu	37	11	111225288	111225288	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:111225288C>T	ENST00000393067.3	-	5	983	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	157					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCGGGCGTGGCGGAGCTTCTT	0.642		NA	T	BCL6	NHL								False	0	False	11:111225288	0
ERCC2	2068	broad.mit.edu	37	19	45867502	45867502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:45867502G>A	ENST00000391945.4	-	9	883	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	269	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTGAGCACCGTCTTCTGCAG	0.692		NA	"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	19:45867502	0
CACNA1A	773	broad.mit.edu	37	19	13414635	13414635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:13414635G>A	ENST00000360228.5	-	16	2049	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	685					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGCCGCCCTGCACGCCCCCC	0.562		NA											False	0	False	19:13414635	0
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000587133.1_Silent_p.L253L|FAM86A_ENST00000458008.4_Silent_p.L280L|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527		NA											False	0	True	16:5135684	0
MYF5	4617	broad.mit.edu	37	12	81110965	81110965	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617		NA											False	0	False	12:81110965	0
IRF8	3394	broad.mit.edu	37	16	85946826	85946826	+	Silent	SNP	G	G	A	rs146360039	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617		NA											False	0	False	16:85946826	0
DGKI	9162	broad.mit.edu	37	7	137263014	137263014	+	Splice_Site	SNP	A	A	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:137263014A>C	ENST00000453654.1	-	16	1338		c.e16+1		DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000424189.2_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATGTATACCTACCCCTGCATA	0.313		NA											False	0	True	7:137263014	0
FAM47C	442444	broad.mit.edu	37	X	37026745	37026745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:37026745G>A	ENST00000358047.3	+	1	314	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	88										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGGTCCCCAAGCTGACCCCAA	0.532		NA											False	0	False	X:37026745	0
LRRK1	79705	broad.mit.edu	37	15	101586241	101586241	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:101586241C>T	ENST00000284395.5	+	22	3410	c.3010C>T	c.(3010-3012)Cgg>Tgg	p.R1004W	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1007W			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1007					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACGGTATGCGGCACCCCAC	0.562		NA											False	0	False	15:101586241	0
ADORA3	140	broad.mit.edu	37	1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	rs143962803	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	195					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A195T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGATAGATGGCGCACATGACA	0.433		NA											False	0	False	1:112042946	0
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393		NA											False	0	False	7:56085002	0
FAM160B1	57700	broad.mit.edu	37	10	116608431	116608431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:116608431G>A	ENST00000369248.4	+	13	2073	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	580										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACCGGATGACGCAAAATCCTC	0.403		NA											False	0	False	10:116608431	0
SOGA1	140710	broad.mit.edu	37	20	35444329	35444329	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:35444329C>T	ENST00000237536.4	-	5	1857	c.1516G>A	c.(1516-1518)Ggg>Agg	p.G506R	SOGA1_ENST00000279034.5_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000357779.3_Missense_Mutation_p.G268R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	268										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AAGCTCTCCCCGCACTCTCCG	0.662		NA											False	0	True	20:35444329	0
CX3CR1	1524	broad.mit.edu	37	3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:39307048C>T	ENST00000541347.1	-	2	1192	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H|CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTGGACTGAGCGCCCACACAG	0.478		NA											False	0	False	3:39307048	0
SCN2A	6326	broad.mit.edu	37	2	166201198	166201198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:166201198G>A	ENST00000375437.2	+	16	2986	c.2696G>A	c.(2695-2697)gGc>gAc	p.G899D	SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000357398.3_Missense_Mutation_p.G899D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	899					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGTCGGCATGCAGCTC	0.443		NA											False	0	False	2:166201198	0
VGLL1	51442	broad.mit.edu	37	X	135630884	135630884	+	Silent	SNP	G	G	A	rs151216817		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:135630884G>A	ENST00000370634.3	+	3	521	c.351G>A	c.(349-351)ccG>ccA	p.P117P		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTCACCGTCCCTGGCTA	0.592		NA											False	0	False	X:135630884	0
TFDP1	7027	broad.mit.edu	37	13	114277494	114277494	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:114277494G>T	ENST00000375370.5	+	4	291		c.e4-1		TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000544902.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	NA					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGTGTTGCAGGCGTGGTGTC	0.532		NA								TSP Lung(29;0.18)			False	0	False	13:114277494	0
MYO16	23026	broad.mit.edu	37	13	109779791	109779791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:109779791G>A	ENST00000356711.2	+	31	4004	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	MYO16_ENST00000357550.2_Missense_Mutation_p.R1293Q|MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1293					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCGTCTCCACGGAAACAGCCC	0.662		NA											False	0	False	13:109779791	0
HERC2	8924	broad.mit.edu	37	15	28517442	28517442	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28517442G>A	ENST00000261609.7	-	9	1110	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	334					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAGTGGGGCGCTGGTGCCCT	0.567		NA											False	0	False	15:28517442	0
GRK7	131890	broad.mit.edu	37	3	141535562	141535562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:141535562G>T	ENST00000264952.2	+	4	1469	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	444	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGAGAAAAGTCTGATGATC	0.413		NA											False	0	True	3:141535562	0
