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
CHD1	1105	broad.mit.edu	37	5	98216807	98216807	+	Silent	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:98216807T>G	ENST00000284049.3	-	21	3182	c.3033A>C	c.(3031-3033)gtA>gtC	p.V1011V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1011					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTCATCTCCTACAGTTAAAG	0.294000													14	40					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:19489045C>T	ENST00000375267.2	-	35	4828	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1609					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCTCAGGGCATTCGTGACA	0.512000													6	89					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:129641861C>G	ENST00000319119.4	+	2	268	c.183C>G	c.(181-183)ttC>ttG	p.F61L	ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCCATATTTCCGGGACCATT	0.463000													6	97					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	209	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACGGGCACACCGCAGCCGGA	0.662000													10	72					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1317							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctgcctcgtatctctcctctc	0.502000													17	58					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:38976759G>A	ENST00000355481.4	+	34	5595	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGCGCGACGGTGGGCAGCA	0.701000													13	66					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76462786	76462786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr17:76462786G>A	ENST00000389840.5	-	56	8973	c.8849C>T	c.(8848-8850)gCg>gTg	p.A2950V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A2959V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGACACCAGCGCATCTTCCGG	0.627000													4	20					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:46694501T>G	ENST00000299138.7	-	17	2332	c.2274A>C	c.(2272-2274)gaA>gaC	p.E758D		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	758					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTTCACTGGATTCAAGATTCG	0.408000													15	69					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420990	49420990	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420990G>C	ENST00000301067.7	-	48	14758	c.14759C>G	c.(14758-14760)cCc>cGc	p.P4920R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGTGCCAAGGGGGAAGGGGG	0.627000													7	48					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:9370528T>G	ENST00000378501.2	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333000													12	72					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201846387	201846387	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:201846387C>T	ENST00000418596.2	-	12	1386	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	400						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACTGAATCTCGAGGGCTCTC	0.483000													16	29					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:16252698G>A	ENST00000339732.5	+	5	1650	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGGAGCGTATGACTCTCTTAT	0.547000													17	59					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412384	154412384	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:154412384C>T	ENST00000414028.2	+	3	991	c.941C>T	c.(940-942)aCg>aTg	p.T314M	OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000330432.7_Missense_Mutation_p.T314M	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	314					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CCAGAAACTACGTTCCAGACT	0.463000													19	75					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437323	132437323	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:132437323T>A	ENST00000370828.3	-	8	1863	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	447					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGGGTTGTTGCCCTGG	0.443000													3	49					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657844	33657844	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:33657844G>A	ENST00000374316.5	+	52	7961	c.6901G>A	c.(6901-6903)Gtg>Atg	p.V2301M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2301					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGTGAGCTTCGTGGGCAACCG	0.572000													3	62					0	0	1	0	0
SDHB	6390	broad.mit.edu	37	1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	rs121917755		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:17355219G>A	ENST00000375499.3	-	4	449	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	100	2Fe-2S ferredoxin-type.		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function).		respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGCACAAGAGCCACAGAT	0.468000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				8	100					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925329	114925329	+	Missense_Mutation	SNP	C	C	T	rs61724286		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:114925329C>T	ENST00000355717.4	+	13	1913	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000536810.1_Silent_p.C469C	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	0	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAAAAAGTGCGTTCGCTACA	0.527000			T	VTI1A	colorectal								5	112					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165279	151165279	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:151165279A>G	ENST00000282466.3	-	4	2489	c.2490T>C	c.(2488-2490)gaT>gaC	p.D830D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	830					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAGGACTATCAGATATTG	0.433000													6	119					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7179870	7179870	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:7179870C>T	ENST00000320892.6	+	9	1300	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	286						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GTAAAGGTGACGACGACCCGT	0.582000													6	53					0	0	1	0	0
C11orf73	51501	broad.mit.edu	37	11	86055702	86055702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:86055702C>T	ENST00000533986.1	+	4	716	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000278483.3_Nonsense_Mutation_p.Q160*			Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	160						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TGCTGTCTCTCAGGCCCAGAT	0.358000													5	70					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:75022226T>C	ENST00000261978.4	-	4	1387	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	334					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGAGGGGTGCTCCAGAGGTAC	0.632000													10	62					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569559	116569559	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:116569559C>T	ENST00000369503.4	+	5	774	c.644C>T	c.(643-645)gCc>gTc	p.A215V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	215					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCCAATATGCCCTGTTAGGA	0.478000													4	134					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384362	2384362	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:2384362G>A	ENST00000202625.2	+	9	1290	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	410					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GATGAGAGCCGGGAGCGTGTA	0.577000													4	64					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672053	126672053	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:126672053A>G	ENST00000359653.4	+	8	2075	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	568	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGTTGTGGGAACAGAGTTTTT	0.483000													17	86					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100962536	100962536	+	Splice_Site	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:100962536G>A	ENST00000375066.5	-	12	2636	c.2546_splice	c.e12+1	p.R849_splice	TBC1D2_ENST00000375064.1_Splice_Site_p.R860_splice|TBC1D2_ENST00000375063.1_Splice_Site_p.R400_splice|TBC1D2_ENST00000342112.5_Splice_Site_p.R642_splice	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	860						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCCTCACCGGCTGTTGGAG	0.537000													8	18					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	436435	436435	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:436435C>A	ENST00000256509.2	+	24	3616	c.2974C>A	c.(2974-2976)Ccc>Acc	p.P992T	CHL1_ENST00000397491.2_Missense_Mutation_p.P976T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	976	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCATCAAAGCCCAGCTGGCA	0.393000													12	48					2.61681e-11	2.72896e-11	1	1	0
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:38061231A>T	ENST00000250448.2	-	2	819	c.758T>A	c.(757-759)aTg>aAg	p.M253K	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687000													4	34					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:39272357G>A	ENST00000453413.2	-	3	567	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGAGGTTGAGTGGGATCCCC	0.637000													15	102					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420696	49420696	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420696G>A	ENST00000301067.7	-	48	15052	c.15053C>T	c.(15052-15054)aCa>aTa	p.T5018I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCGCAAGGCTGTGCCAAGCTG	0.627000													6	54					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269122	123269122	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTTTGGCGTTTCTAATAATG	0.453000													46	73					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													4	68					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	893					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGTAGGCTGCCCCACAAAT	0.512000			T	PAX5	ALL								4	51					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380595	78380595	+	Silent	SNP	G	G	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:78380595G>C	ENST00000278550.7	-	32	7257	c.6795C>G	c.(6793-6795)ggC>ggG	p.G2265G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGATATCACCGCCCCGCTGCC	0.602000													5	141					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963818	73963818	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:73963818T>A	ENST00000373468.1	-	3	1225	c.574A>T	c.(574-576)Aat>Tat	p.N192Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.N192Y			Q5QGS0	K2022_HUMAN	KIAA2022	192					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTCATATTTTCTCCAGCA	0.458000													5	36					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	46					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348339	90348339	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:90348339G>A	ENST00000300060.6	-	4	1180	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCTTCTCCACGTAGTCGAACT	0.567000													16	79					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152541	27152541	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:27152541C>T	ENST00000343028.4	-	3	540	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	105						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGCATGTACTCTGCTCTGGTC	0.473000													12	30					0	0	1	0	0
PCDHGA9	0	broad.mit.edu	37	5	140783254	140783254	+	Silent	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCAACGGATTTACCGAG	0.557000													12	72					9.31168e-06	9.57398e-06	1	1	0
TTL	150465	broad.mit.edu	37	2	113260632	113260632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:113260632C>A	ENST00000233336.5	+	5	940	c.749C>A	c.(748-750)tCa>tAa	p.S250*		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	250	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAAGAGTATTCAAAGAACTAC	0.383000			T	ETV6	ALL								6	90					0.00116845	0.00116845	1	1	0
STARD13	90627	broad.mit.edu	37	13	33703513	33703513	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:33703513C>T	ENST00000336934.5	-	5	1417	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	STARD13_ENST00000255486.4_Missense_Mutation_p.G426D|STARD13_ENST00000399365.3_Missense_Mutation_p.G316D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	434					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGCTCTCTGCCCAGGGAGAT	0.567000													3	31					0	0	1	0	0
BDKRB1	0	broad.mit.edu	37	14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572000													18	80					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964856	92964856	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:92964856G>A	ENST00000538690.1	+	5	999	c.438G>A	c.(436-438)acG>acA	p.T146T	FAM133A_ENST00000332647.4_Silent_p.T146T|FAM133A_ENST00000355813.5_Silent_p.T146T|FAM133A_ENST00000322139.4_Silent_p.T146T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	146	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGCTCTACGCATGAATCAG	0.368000													5	8					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432745	126432745	+	Missense_Mutation	SNP	G	G	A	rs119462978		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:126432745G>A	ENST00000525144.2	-	2	367	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	40			R -> W (in MRD4).		hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTCATTCTCCGAAACTTGTCC	0.547000													12	36					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:59343160G>T	ENST00000399598.2	+	3	393	c.271G>T	c.(271-273)Gag>Tag	p.E91*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTTTCAAAGAGGCAAGGGA	0.363000													15	39					2.31682e-05	2.349e-05	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:102482692C>G	ENST00000360184.4	+	37	7644	c.7480C>G	c.(7480-7482)Ctg>Gtg	p.L2494V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2494					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGCGATATCTGGTTTATGC	0.408000													6	49					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													4	69					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369196	158369196	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:158369196G>A	ENST00000334438.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCTCCCCCAGGCTGGAGAAA	0.468000													4	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:45695903A>C	ENST00000303230.4	-	1	350	c.293T>G	c.(292-294)tTc>tGc	p.F98C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	98	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATGGAGGTGAACTGCCTCTG	0.682000													9	38					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1999	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCACTTGATCTTGCCTGT	0.562000									Ichthyosis				97	519					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:57161715A>G	ENST00000371244.4	+	6	737	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	224	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACGTTATTTAAGAAGATCCGA	0.463000													11	275					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	40					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000492877.1_3'UTR	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		GAAGAAATACTTGAGCAATTT	0.438000													13	53					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122107369	122107369	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:122107369T>C	ENST00000355329.3	-	1	191	c.21A>G	c.(19-21)ccA>ccG	p.P7P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	7										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCGACTTTTTTGGGCACTTAG	0.617000													7	89					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069373	161069373	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:161069373T>A	ENST00000392192.2	+	3	834	c.692T>A	c.(691-693)tTt>tAt	p.F231Y	KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000368011.4_Intron	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGACAGTCCTTTCTTTCTCCC	0.507000													19	309					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:66563653T>C	ENST00000359626.5	+	12	1674	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	504					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTCCACCAGTGTAAAATTTC	0.453000													4	70					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114226	75114226	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:75114226C>T	ENST00000309664.5	+	10	1255	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.S360S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	372						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCTCTCCATGTCACTCA	0.612000													8	41					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90933337	90933337	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:90933337C>T	ENST00000451899.2	+	5	818	c.558C>T	c.(556-558)agC>agT	p.S186S	OSGIN2_ENST00000297438.2_Silent_p.S142S|OSGIN2_ENST00000520659.1_Silent_p.S186S	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	142					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGACAATCAGCTTTGGAAGTT	0.328000													6	156					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:152676065A>T	ENST00000367255.5	-	67	11256	c.10655T>A	c.(10654-10656)gTg>gAg	p.V3552E	SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTGTGCAGCACTGAGTTCAA	0.542000										HNSCC(10;0.0054)			7	92					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	199					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGGTCAGCAACTATAGTCGAG	0.602000													4	44					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063567	103063567	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:103063567C>T	ENST00000264260.2	+	10	1699	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	IL18RAP_ENST00000409369.1_Silent_p.T228T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	370					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCATCGGGACCCTGGTGGCCG	0.587000													5	167					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082816	66082816	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:66082816G>A	ENST00000311330.3	-	1	1699	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	561	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GCTGGGCACCGAGGGTGGTGA	0.622000													6	58					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:230656648_230656649delTC	ENST00000283943.5	-	28	4301_4302	c.4123_4124delGA	c.(4123-4125)afs	p.E1375fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGTGGATTCTCTTTCATCT	0.396													16	98	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													2	4	---	---	---	---					
AZGP1P1	0	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													5	6	---	---	---	---					
AHCYL2	23382	broad.mit.edu	37	7	128865041	128865042	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:128865041_128865042insC	ENST00000325006.3	+	1	178_179	c.124_125insC	c.(124-126)cccfs	p.P42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.P42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGCGCCATGGCCCCCCCGGCG	0.787													2	4	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													3	6	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	23	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	2	---	---	---	---					
BRD4	23476	broad.mit.edu	37	19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cgc>c	p.QR1289del		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	Poly-Gln.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people								2	4	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													6	7	---	---	---	---					
MECP2	4204	broad.mit.edu	37	X	153363076	153363078	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:153363076_153363078delCCT	ENST00000453960.2	-	1	99_101	c.45_47delAGG	c.(43-48)ggc>gg	p.GG15del	MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCTCGCCTCCTCCTCCTC	0.778													2	4	---	---	---	---					
