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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RPGRIP1L	23322	broad.mit.edu	37	16	53730090	53730090	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr16:53730090G>A	ENST00000262135.4	-	3	296	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.A68V	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	68					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTGCTTGCGGGCATGCTGTTT	0.373000													4	105					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219418330	219418330	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:219418330C>G	ENST00000258399.3	-	5	686	c.274G>C	c.(274-276)Gca>Cca	p.A92P	USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P|USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	92					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATTTCCTCTGCATCCTTACTT	0.433000													3	67					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:32631824G>A	ENST00000242310.4	-	1	3843	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCTTAAGCCGCCTCAGTTGC	0.448000													40	81					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	55					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1248357	1248357	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:1248357C>T	ENST00000447027.1	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	MUC5B_ENST00000529681.1_Silent_p.N186N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	186	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCTGTGGAACGGAGAGGACA	0.662000													8	25					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131116856	131116856	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:131116856G>A	ENST00000175756.5	+	3	354	c.253G>A	c.(253-255)Gac>Aac	p.D85N	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	85	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GGGACACAGCGACTACATTAA	0.552000													15	82					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968056	102968056	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:102968056C>T	ENST00000233954.1	+	11	1617	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	449	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCATCCTGACCCCTCAGATC	0.463000													22	46					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760059	115760059	+	RNA	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:115760059T>G	ENST00000427548.1	-	0	1754							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CGGCTGAAGGTTTTTCCACAT	0.398000													6	51					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702410	135702410	+	Silent	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:135702410G>A	ENST00000298545.3	-	8	1109	c.588C>T	c.(586-588)ccC>ccT	p.P196P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	196						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTTCAGATTCGGGTGGCCAGT	0.542000													6	215					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31562436	31562436	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:31562436C>T	ENST00000379416.3	-	34	3741	c.3693G>A	c.(3691-3693)ccG>ccA	p.P1231P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1231					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGCCAAATGCCGGGATCTTGT	0.592000													11	30					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180378437	180378437	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:180378437C>A	ENST00000273654.4	-	10	1308	c.689G>T	c.(688-690)tGg>tTg	p.W230L	CCDC39_ENST00000442201.2_Missense_Mutation_p.W146L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	146					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTTCTAACCAGGCCTCCAA	0.373000													8	6					1.58986e-06	1.6721e-06	1	1	0
MSH3	4437	broad.mit.edu	37	5	80088578	80088578	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:80088578T>G	ENST00000265081.6	+	19	2650	c.2570T>G	c.(2569-2571)aTt>aGt	p.I857S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	857					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAAGAAAAATTGTAATAAAA	0.328000								Mismatch excision repair (MMR)					3	69					0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762553	37762553	+	Silent	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:37762553C>A	ENST00000302584.4	-	2	520	c.300G>T	c.(298-300)cgG>cgT	p.R100R		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	100					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCTTCTTGGGCCGCTCGCCCT	0.677000													6	5					0.00116845	0.00116845	1	1	0
KLHL10	317719	broad.mit.edu	37	17	40001966	40001966	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:40001966G>A	ENST00000293303.4	+	3	1426	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	425						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ACAGAGGAGTGATGCAAGCGC	0.493000													34	39					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:75051125G>A	ENST00000310715.3	-	20	2428	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000394865.1_Missense_Mutation_p.R770W	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423000													40	86					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44807185	44807185	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:44807185A>G	ENST00000309315.4	+	19	2849	c.2726A>G	c.(2725-2727)aAc>aGc	p.N909S	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	909					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTACGAACAACAATGACGAC	0.557000													16	36					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976285	46976285	+	Missense_Mutation	SNP	G	G	T	rs75640222		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:46976285G>T	ENST00000264318.3	-	6	1667	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	229					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATACGGTTTGCCCAATCAAA	0.398000													12	122					5.50884e-06	5.60065e-06	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136573	64136573	+	Silent	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:64136573A>G	ENST00000395254.3	+	2	901	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF365_ENST00000395255.3_Silent_p.K207K|ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGACTCAGAAAAAGCAGGAAG	0.507000													32	91					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7410437	7410437	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:7410437C>T	ENST00000399429.3	-	33	3125	c.2985G>A	c.(2983-2985)tcG>tcA	p.S995S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	995					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTTGAGGTGACGATGAACCAA	0.363000													4	88					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045706	193045706	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:193045706G>A	ENST00000432079.1	+	3	620	c.52G>A	c.(52-54)Gta>Ata	p.V18I	TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I			P10155	RO60_HUMAN	TROVE domain family, member 2	293	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCTAATTCAGTACTTGAACC	0.323000													61	176					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396401	17396401	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:17396401C>T	ENST00000470360.1	+	3	185	c.68C>T	c.(67-69)gCc>gTc	p.A23V	SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACACCTGCCCCACCGGTT	0.408000													35	101					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94800909	94800909	+	RNA	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:94800909C>A	ENST00000529911.1	+	0	549					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										ACAGCGCTCTCCCTACAGCAG	0.587000													7	54					2.0095e-06	2.07762e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141108609	141108609	+	Splice_Site	SNP	T	T	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:141108609T>A	ENST00000389484.3	-	77	12622		c.e77-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCAGAGCCTGGAGattatt	0.264000										TSP Lung(27;0.18)			21	77					0	0	1	0	0
C3orf18	51161	broad.mit.edu	37	3	50603088	50603088	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:50603088G>A	ENST00000357203.3	-	3	582	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	C3orf18_ENST00000441239.1_Missense_Mutation_p.R15C|C3orf18_ENST00000426034.1_Missense_Mutation_p.R15C|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000449241.1_Missense_Mutation_p.R15C	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	15						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GTGGGTGGGCGGCTGCTGAAC	0.627000													5	31					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559089	129559089	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr12:129559089G>C	ENST00000422113.2	-	9	2957	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	877						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGTCTGCAAGTGGCTGTTGT	0.557000													18	69					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707052	37707052	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:37707052C>T	ENST00000248901.6	+	10	1019	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	278	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACGTGGAAACGGCGCTGGTT	0.642000													24	94					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35790572	35790572	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:35790572C>T	ENST00000361922.4	+	5	681	c.531C>T	c.(529-531)caC>caT	p.H177H	MAG_ENST00000392213.3_Silent_p.H177H|MAG_ENST00000537831.2_Silent_p.H152H|MAG_ENST00000597035.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	177	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCTGGGCCACGAGGGGCTGG	0.711000													5	11					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670917	90670917	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:90670917G>A	ENST00000265138.3	-	5	958	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	231					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAGGCCTGTGTTTGGTAAAT	0.433000													39	58					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913396	6913396	+	Silent	SNP	G	G	A	rs140944764		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:6913396G>A	ENST00000299459.2	-	1	434	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGAAGGGCGCACTGGGTAC	0.488000													18	55					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43969914	43969914	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:43969914C>T	ENST00000282406.4	+	22	3366	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1086	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTGCCAGCGTTGTGTAGA	0.353000													20	43					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237619981	237619981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237619981C>T	ENST00000366574.2	+	16	1875	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R518*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R504*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	520					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)			TGTTGCTGGGCGAGAAGCAGG	0.433000													33	66					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26696092	26696092	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:26696092C>T	ENST00000272371.2	-	29	3767	c.3641G>A	c.(3640-3642)cGc>cAc	p.R1214H	OTOF_ENST00000403946.3_Missense_Mutation_p.R1214H|OTOF_ENST00000402415.3_Missense_Mutation_p.R524H|OTOF_ENST00000339598.3_Missense_Mutation_p.R467H|OTOF_ENST00000338581.6_Missense_Mutation_p.R467H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1214					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTGTAGCGACCGAAGGC	0.672000													17	36					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21871503	21871503	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chrY:21871503C>T	ENST00000541639.1	-	21	3156	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T	KDM5D_ENST00000317961.4_Missense_Mutation_p.A926T|KDM5D_ENST00000382806.2_Missense_Mutation_p.A869T	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	926					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCAGAAGGGGCCAGGGCCTGC	0.612000													9	9					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767940	205767940	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:205767940A>G	ENST00000367137.3	-	6	1715	c.701T>C	c.(700-702)aTg>aCg	p.M234T	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	234						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATCATGATCATACCTGGTGA	0.532000													48	48					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46721979	46721979	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:46721979C>T	ENST00000318962.4	-	14	1572	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	497					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTGACCATGACCCCTGGGCCG	0.602000													10	47					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26975611	26975611	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:26975611G>C	ENST00000381527.3	+	12	1622	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	373	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGAAGAACCAGCAGCAGCAGC	0.458000													3	47					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42953449	42953449	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:42953449C>T	ENST00000426333.2	-	10	1019	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	241						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGATCAGCCGCTCTGTGTT	0.507000													4	136					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187585	58187585	+	Silent	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:58187585G>A	ENST00000318203.5	+	3	769	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	24					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAATTCAGCGTTTCAACAAA	0.373000													43	63					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102753257	102753257	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:102753257G>A	ENST00000311916.2	+	5	2230	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	682					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCTCCAAGCGTTCAAAGTGA	0.552000													10	30					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:226570790G>A	ENST00000366794.5	-	8	1249	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	369					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGAGGGCGGAGGCGTGGCCGC	0.532000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					67	193					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086252	171086252	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:171086252C>T	ENST00000367755.4	+	9	1380	c.1269C>T	c.(1267-1269)agC>agT	p.S423S	FMO3_ENST00000392085.2_Silent_p.S423S|FMO3_ENST00000538429.1_Silent_p.S360S|FMO3_ENST00000542847.1_Silent_p.S403S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	423					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCAAAAGCGAGACCATAC	0.438000													6	67					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54547218	54547218	+	Silent	SNP	T	T	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr18:54547218T>C	ENST00000254442.3	+	21	3559	c.3348T>C	c.(3346-3348)tcT>tcC	p.S1116S	WDR7_ENST00000357574.3_Silent_p.S1083S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTCTACATCTTACGAGGAAA	0.363000													19	38					0	0	1	0	0
IL24	11009	broad.mit.edu	37	1	207075401	207075401	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:207075401G>A	ENST00000367093.3	+	5	639	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.R175Q|IL24_ENST00000294984.2_Missense_Mutation_p.R174Q	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	174					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTGCTATTCCGGAGAGCATTC	0.473000													6	76					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21945674	21945674	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr14:21945674A>G	ENST00000405508.1	+	3	302	c.26A>G	c.(25-27)aAt>aGt	p.N9S	TOX4_ENST00000448790.2_Intron|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.N9S			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	9						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)		GGAAATGACAATTACCTGACG	0.607000											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	82					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064397	64064397	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:64064397G>A	ENST00000538767.1	+	2	290	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	KCNK4_ENST00000422670.2_Silent_p.S79S|KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	379						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AAACCAACTCGACCAGCAACA	0.612000													12	35					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043369	170043369	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:170043369G>A	ENST00000284637.9	-	7	1569	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	410						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGGAGGCAAGGACAGTGGCA	0.542000													6	8					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	170					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039450	20039450	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:20039450T>G	ENST00000400230.2	-	9	665	c.621A>C	c.(619-621)gaA>gaC	p.E207D	TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	207						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCCTTTTGTTTTCTGAAACCT	0.323000													45	108					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													4	43					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947221	237947221	+	Missense_Mutation	SNP	C	C	T	rs142342524	by1000genomes	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237947221C>T	ENST00000366574.2	+	90	12526	c.12209C>T	c.(12208-12210)gCg>gTg	p.A4070V	RYR2_ENST00000360064.6_Missense_Mutation_p.A4076V|RYR2_ENST00000542537.1_Missense_Mutation_p.A4054V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					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	p.A4068V(1)		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)			TTGTCTTGTGCGGAGACGGAT	0.517000													9	20					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995766	143995766	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:143995766C>T	ENST00000323110.2	-	5	870	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	290					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGCTCCGCCACGATGCCTGTG	0.567000									Familial Hyperaldosteronism type I				11	24					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90262289	90262289	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:90262289A>G	ENST00000469640.2	+	14	1675	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D|DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D			P53355	DAPK1_HUMAN	death-associated protein kinase 1	434					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCAGTGAGAACAAATGCCC	0.507000									Chronic Lymphocytic Leukemia, Familial Clustering of				20	50					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104747653	104747653	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:104747653G>A	ENST00000334877.4	+	21	3422	c.2888G>A	c.(2887-2889)cGc>cAc	p.R963H	KMT2E_ENST00000311117.3_Missense_Mutation_p.R963H|KMT2E_ENST00000257745.4_Missense_Mutation_p.R963H|KMT2E_ENST00000334914.7_Missense_Mutation_p.R18H					lysine (K)-specific methyltransferase 2E																		ATAAAGAGACGCACTTATAGT	0.264000													11	60					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47861461	47861461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:47861461delG	ENST00000378460.2	-	4	728	c.682delC	c.(682-684)tgfs	p.L228fs	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	228					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCAAACAGGGCCTCCCCA	0.458													32	68	---	---	---	---