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
PHACTR2	9749	broad.mit.edu	37	6	144074983	144074983	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:144074983G>A	ENST00000427704.2	+	4	485	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PHACTR2_ENST00000367582.3_Missense_Mutation_p.E130K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E119K|PHACTR2_ENST00000397980.3_Missense_Mutation_p.E130K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E130K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E187K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	119							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGTAAAGTCTGAAGAAGGTAA	0.373000													17	17					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083159	17083159	+	Missense_Mutation	SNP	G	G	A	rs121434430		TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:17083159G>A	ENST00000377833.4	-	27	3955	c.3890C>T	c.(3889-3891)cCg>cTg	p.P1297L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1297	CUB 8.		P -> L (in RH-MGA1; decreases strongly the GIF binding affinity; dbSNP:rs28939699).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAAGGATTCGGATACCCTAT	0.388000													27	93					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706869	107706869	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:107706869C>T	ENST00000388781.3	-	20	2706	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E875K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E875K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	875	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GACCCTGTCTCAGGATCACAA	0.468000													19	21					0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63481937	63481937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr15:63481937C>G	ENST00000321437.4	+	1	270	c.114C>G	c.(112-114)atC>atG	p.I38M	RAB8B_ENST00000448330.2_Missense_Mutation_p.I38M	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	38					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						CCACCTTCATCTCCACCATCG	0.652000													11	37					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180431	126180431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:126180431G>A	ENST00000389709.3	-	6	2127	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	ZXDC_ENST00000336332.5_Nonsense_Mutation_p.Q692*	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	692					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCACCGTGCTGCTCTGCTGGA	0.572000													13	58					0	0	1	0	0
RCCD1	91433	broad.mit.edu	37	15	91500068	91500068	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr15:91500068T>A	ENST00000394258.2	+	2	306	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	RCCD1_ENST00000556618.1_Missense_Mutation_p.L35Q|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.L35Q	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	35										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CCCAGTCCGCTGCGGGCGGGC	0.726000											OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878258	27878258	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:27878258C>A	ENST00000374011.2	-	6	1337	c.369G>T	c.(367-369)caG>caT	p.Q123H	AHDC1_ENST00000247087.5_Missense_Mutation_p.Q123H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	123	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTCAATCAGCTGCACCACTG	0.662000													10	410					7.48243e-07	8.09863e-07	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258746	9258746	+	Silent	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr18:9258746A>G	ENST00000262126.4	+	9	5721	c.5481A>G	c.(5479-5481)ccA>ccG	p.P1827P	ANKRD12_ENST00000400020.3_Silent_p.P1804P|ANKRD12_ENST00000383440.2_Silent_p.P1804P	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGATTCAGCCATACAGTTCAG	0.383000													36	27					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381060	34381060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr9:34381060C>T	ENST00000297623.2	-	5	740	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	C9orf24_ENST00000379126.3_Missense_Mutation_p.R46Q|C9orf24_ENST00000379133.3_Missense_Mutation_p.R46Q|C9orf24_ENST00000379124.1_Missense_Mutation_p.R46Q|C9orf24_ENST00000379127.1_Missense_Mutation_p.R46Q	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCACCCGCATCGGGGCGTGAT	0.667000													10	13					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:204305768A>G	ENST00000319170.5	-	14	2444	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P	RAPH1_ENST00000374493.3_Silent_p.P767P|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	715					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622000													4	31					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107674701	107674701	+	Silent	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:107674701A>G	ENST00000388781.3	-	31	4853	c.4770T>C	c.(4768-4770)atT>atC	p.I1590I	LAMB4_ENST00000388780.3_Silent_p.I1590I|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Silent_p.I1590I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1590	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAGCTGTGTAATGGTAGAGT	0.348000													10	89					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226026377	226026377	+	Silent	SNP	C	C	T	rs112721617	byFrequency	TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:226026377C>T	ENST00000366837.4	+	4	583	c.387C>T	c.(385-387)caC>caT	p.H129H	EPHX1_ENST00000272167.5_Silent_p.H129H	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	129					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACTTCATCCACGTGAAGCCCC	0.627000													25	160					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:25014018G>T	ENST00000382114.4	-	7	944	c.759C>A	c.(757-759)aaC>aaA	p.N253K		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													31	159					5.60225e-13	6.36305e-13	1	1	0
TULP3	7289	broad.mit.edu	37	12	3040399	3040399	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:3040399A>T	ENST00000448120.2	+	6	740	c.689A>T	c.(688-690)aAt>aTt	p.N230I	TULP3_ENST00000397132.2_Missense_Mutation_p.N230I	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	230					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AAAGAAGAAAATCAGAAGGTA	0.413000													16	59					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650122	79650122	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:79650122C>A	ENST00000397498.4	-	3	325	c.227G>T	c.(226-228)aGa>aTa	p.R76I	ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_5'UTR|ARL16_ENST00000573392.1_Intron|ARL16_ENST00000570561.1_5'UTR	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	76							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGTGATCTTTCTCTGTGCCAC	0.507000													84	194					1.52589e-26	1.84713e-26	1	1	0
DST	667	broad.mit.edu	37	6	56472567	56472567	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:56472567G>C	ENST00000370754.5	-	39	6759	c.6760C>G	c.(6760-6762)Cct>Gct	p.P2254A	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.P2076A|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.P2076A|DST_ENST00000370769.4_Missense_Mutation_p.P2076A|DST_ENST00000446842.2_Missense_Mutation_p.P1750A			Q03001	DYST_HUMAN	dystonin	2076					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATGTTCAGGTTCTCCACAG	0.343000													50	77					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106898789	106898789	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:106898789G>A	ENST00000393603.2	-	15	1979	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	COG5_ENST00000297135.3_Missense_Mutation_p.L570F|COG5_ENST00000347053.3_Missense_Mutation_p.L570F	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	570					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCTTCAGTAAGAGGCCCAATC	0.358000													19	79					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1752143	1752143	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:1752143C>A	ENST00000381241.3	+	7	946	c.747C>A	c.(745-747)caC>caA	p.H249Q	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381229.4_Missense_Mutation_p.H221Q|ASMT_ENST00000509780.1_Intron	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	221					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAAAGCAGCACTTCTCATTCC	0.532000													32	149					1.39806e-14	1.61788e-14	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109794480	109794480	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:109794480G>A	ENST00000271332.3	+	1	1840	c.1779G>A	c.(1777-1779)tcG>tcA	p.S593S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	593	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCACTGCCTCGGCCAGTGTCA	0.552000													23	75					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181706	57181706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:57181706G>A	ENST00000504228.1	+	6	2143	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E680K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E673K			Q6ZU35	K1211_HUMAN	KIAA1211	680										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAACGCAGAGAGTGACCC	0.657000													78	97					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201095	179201095	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:179201095C>G	ENST00000292599.3	+	5	2531	c.2268C>G	c.(2266-2268)ctC>ctG	p.L756L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	756					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCAGCCTCTATGGCATGG	0.592000													20	19					0	0	1	0	0
MIR506	574511	broad.mit.edu	37	X	146312318	146312318	+	RNA	SNP	T	T	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:146312318T>C	ENST00000384998.1	-	0	43					NR_030233.1																						AAGTAACACCTTCCTGAATAA	0.423000													46	40					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857795	57857795	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:57857795G>A	ENST00000228682.2	+	3	205	c.114G>A	c.(112-114)ccG>ccA	p.P38P	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	38					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTCTGGCCCGCCCTTCTGCC	0.552000													133	196					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234850	21234850	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:21234850G>C	ENST00000233242.1	-	26	5017	c.4890C>G	c.(4888-4890)atC>atG	p.I1630M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1630					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTGCCTAAGATGTCAGCAT	0.438000													42	49					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17349573	17349573	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:17349573C>A	ENST00000242057.4	+	2	722	c.79C>A	c.(79-81)Cca>Aca	p.P27T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	27					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAAGCCAATCCCAGCTGAAGG	0.363000													4	27					0.00024832	0.000258141	1	1	0
ZNF764	92595	broad.mit.edu	37	16	30569104	30569104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:30569104G>A	ENST00000395091.2	-	2	575	c.260C>T	c.(259-261)cCg>cTg	p.P87L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.P87L			Q96H86	ZN764_HUMAN	zinc finger protein 764	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CTGGGCAGCCGGACCCCACAG	0.612000													3	19					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99250815	99250815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr15:99250815G>A	ENST00000268035.6	+	2	730	c.119G>A	c.(118-120)cGc>cAc	p.R40H	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATCGACATCCGCAACGACTAT	0.502000													15	26					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117603295	117603295	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:117603295C>G	ENST00000427718.2	-	9	1395	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	FBXO21_ENST00000330622.5_Missense_Mutation_p.E441Q	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	441					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATTACCTTCTCTGGCCAGATT	0.488000													76	135					0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39108242	39108242	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:39108242C>T	ENST00000302313.5	+	5	385	c.357C>T	c.(355-357)taC>taT	p.Y119Y	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Silent_p.Y37Y|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	119					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACAGGATTACGTAAAGGCCT	0.373000													11	69					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	87					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459501	148459501	+	Nonsense_Mutation	SNP	G	G	T	rs34488341		TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:148459501G>T	ENST00000542281.1	+	4	1125	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	AGTR1_ENST00000404754.2_Nonsense_Mutation_p.E227*|AGTR1_ENST00000475347.1_Nonsense_Mutation_p.E227*|AGTR1_ENST00000349243.3_Nonsense_Mutation_p.E227*|AGTR1_ENST00000497524.1_Nonsense_Mutation_p.E227*|AGTR1_ENST00000461609.1_Nonsense_Mutation_p.E227*|AGTR1_ENST00000474935.1_Nonsense_Mutation_p.E227*|AGTR1_ENST00000402260.1_Nonsense_Mutation_p.E227*|AGTR1_ENST00000418473.2_Nonsense_Mutation_p.E227*	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	227					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GAAGGCTTATGAAATTCAGAA	0.353000													28	21					1.04121e-07	1.14038e-07	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594182	140594182	+	Missense_Mutation	SNP	G	G	A	rs140541717		TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:140594182G>A	ENST00000341948.4	+	1	674	c.487G>A	c.(487-489)Gta>Ata	p.V163I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		163	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACTTAGATGTAGGCCAAAA	0.463000													4	95					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22846690	22846690	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:22846690G>A	ENST00000404138.1	+	15	3481	c.2970G>A	c.(2968-2970)ccG>ccA	p.P990P	ZBTB40_ENST00000374651.4_Silent_p.P878P|ZBTB40_ENST00000375647.4_Silent_p.P990P	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	990					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCAGTGCCCCGTCCATGCTGG	0.602000													24	94					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261643	25261643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:25261643C>A	ENST00000395990.2	-	17	2127	c.1870G>T	c.(1870-1872)Gaa>Taa	p.E624*	CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000395987.3_Nonsense_Mutation_p.E670*|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000545133.1_Nonsense_Mutation_p.E605*|CASC1_ENST00000320267.9_Nonsense_Mutation_p.E664*	NM_001204102.1	NP_001191031	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	664										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTAAGTGCTTCAGAAAATGCC	0.398000													14	34					1.15088e-07	1.25303e-07	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133118990	133118990	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:133118990G>A	ENST00000302334.2	+	1	152	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	21	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGCCCCTCCAGAGGCGCAGGG	0.647000													48	93					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155312369	155312369	+	Silent	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:155312369A>G	ENST00000357232.4	-	1	80	c.81T>C	c.(79-81)gaT>gaC	p.D27D	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACAGGCATCAGTACTTT	0.318000													4	13					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379634	37379634	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:37379634C>T	ENST00000265107.4	+	2	225	c.69C>T	c.(67-69)gtC>gtT	p.V23V	WDR70_ENST00000504564.1_Silent_p.V23V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	23										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTTGCGGTCACCATGGGCT	0.632000													27	53					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597700	597700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:597700G>A	ENST00000219611.2	+	4	1225	c.862G>A	c.(862-864)Gag>Aag	p.E288K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CCGCCTAGCAGAGTTGCTGTC	0.716000													4	21					0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56384495	56384495	+	Silent	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:56384495G>T	ENST00000360299.5	+	4	566	c.345G>T	c.(343-345)gtG>gtT	p.V115V	RAB5B_ENST00000448789.2_Intron|RAB5B_ENST00000553116.1_Silent_p.V115V	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	115					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGACATGGGTGAAGGAACTAC	0.473000													22	171					3.62473e-10	4.01778e-10	1	1	0
AHR	196	broad.mit.edu	37	7	17349574	17349574	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:17349574C>A	ENST00000242057.4	+	2	723	c.80C>A	c.(79-81)cCa>cAa	p.P27Q		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	27					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAGCCAATCCCAGCTGAAGGA	0.363000													4	26					0.00024832	0.000258141	1	1	0
F2RL3	9002	broad.mit.edu	37	19	17000712	17000712	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:17000712G>A	ENST00000248076.3	+	2	768	c.438G>A	c.(436-438)gaG>gaA	p.E146E	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTTCGGGGAGGCCGCCTGCC	0.706000													4	15					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31227734	31227734	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:31227734C>T	ENST00000357033.4	-	65	9650	c.9444G>A	c.(9442-9444)ctG>ctA	p.L3148L	DMD_ENST00000378723.3_Silent_p.L80L|DMD_ENST00000359836.1_Silent_p.L688L|DMD_ENST00000378702.4_Silent_p.L80L|DMD_ENST00000378677.2_Silent_p.L3144L|DMD_ENST00000378680.2_Silent_p.L80L|DMD_ENST00000541735.1_Silent_p.L688L|DMD_ENST00000361471.4_Silent_p.L80L|DMD_ENST00000474231.1_Silent_p.L688L|DMD_ENST00000378707.3_Silent_p.L688L|DMD_ENST00000343523.2_Silent_p.L688L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3148	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATAATCTGCAGGATATCCA	0.458000													33	48					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33462217	33462217	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:33462217G>T	ENST00000265112.3	+	16	2055	c.1744G>T	c.(1744-1746)Gat>Tat	p.D582Y	TARS_ENST00000509410.1_3'UTR|TARS_ENST00000541634.1_Missense_Mutation_p.D478Y|TARS_ENST00000502553.1_Missense_Mutation_p.D582Y|TARS_ENST00000414361.2_Missense_Mutation_p.D461Y|TARS_ENST00000455217.2_Missense_Mutation_p.D615Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	582					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGATGGTGATGATAAGAAAAG	0.343000													31	104					3.80469e-20	4.54587e-20	1	1	0
TTC17	55761	broad.mit.edu	37	11	43465053	43465053	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:43465053G>A	ENST00000039989.4	+	17	2444	c.2430G>A	c.(2428-2430)ctG>ctA	p.L810L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L867L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	810							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TACGGGTGCTGAAGAAAGGTC	0.488000													17	38					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115486085	115486085	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:115486085G>C	ENST00000369321.2	+	7	993	c.673G>C	c.(673-675)Gat>Cat	p.D225H	CASP7_ENST00000452490.2_Missense_Mutation_p.D167H|CASP7_ENST00000345633.4_Missense_Mutation_p.D192H|CASP7_ENST00000369331.4_Missense_Mutation_p.L180F|CASP7_ENST00000369315.1_Missense_Mutation_p.D192H|CASP7_ENST00000369318.3_Missense_Mutation_p.D192H	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	192					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACCGAGCTTGATGATGGCAT	0.502000													34	60					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9515008	9515008	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:9515008G>T	ENST00000281419.3	+	17	2021	c.1681G>T	c.(1681-1683)Gga>Tga	p.G561*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.G561*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	561					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGATATTTTTGGATTGCTCCA	0.463000													28	132					3.73148e-12	4.18653e-12	1	1	0
KCNV2	169522	broad.mit.edu	37	9	2717947	2717947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr9:2717947G>A	ENST00000382082.3	+	1	446	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	70						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGAAGGACGACCTGGCAGA	0.637000													20	35					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77811653	77811653	+	Silent	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:77811653C>A	ENST00000269397.4	-	3	339	c.162G>T	c.(160-162)ctG>ctT	p.L54L	CBX4_ENST00000448310.1_Silent_p.L54L	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	54	Chromo.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGGCGATCAGCAGCCTGG	0.552000													4	7					0.00909568	0.00924644	1	1	0
MGLL	11343	broad.mit.edu	37	3	127413941	127413941	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:127413941C>T	ENST00000434178.2	-	7	1559	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MGLL_ENST00000398101.3_Silent_p.E195E|MGLL_ENST00000453507.2_Silent_p.E201E|MGLL_ENST00000398104.1_Silent_p.E221E|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000265052.5_Silent_p.E231E			Q99685	MGLL_HUMAN	monoglyceride lipase	221					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGAGGGCGCGCTCCACCCGTG	0.607000													4	125					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351237	83351237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:83351237C>T	ENST00000262752.2	-	20	1943	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G646S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	646	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CAGTTTCCACCACTCAAAGAG	0.353000													16	36					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21728332	21728332	+	Silent	SNP	T	T	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:21728332T>C	ENST00000388958.3	+	14	1594	c.1593T>C	c.(1591-1593)tcT>tcC	p.S531S	OTOA_ENST00000388957.3_Silent_p.S207S|OTOA_ENST00000388956.4_Silent_p.S452S|OTOA_ENST00000286149.4_Silent_p.S545S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	545					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GATTCAACTCTACAGTCCTGA	0.453000													45	61					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52443754	52443754	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:52443754A>C	ENST00000460680.1	-	2	514	c.43T>G	c.(43-45)Ttc>Gtc	p.F15V	BAP1_ENST00000296288.5_Missense_Mutation_p.F15V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	15					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGCAGGGTGAAGAGGCCTGGG	0.701000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							22	18					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42583757	42583757	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:42583757C>T	ENST00000372899.1	+	10	1369	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	UBR2_ENST00000372903.2_Missense_Mutation_p.H371Y|UBR2_ENST00000372901.1_Missense_Mutation_p.H371Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	371					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGTGTATATCATCAGTTGTT	0.363000													14	84					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083455	66083455	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:66083455G>A	ENST00000311330.3	-	1	1060	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	348	EGF-like; calcium-binding (Potential).					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)	GGCTGCAGCTGATGCCATCAG	0.587000													14	42					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	13					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257235	140257235	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:140257235G>A	ENST00000398631.2	+	1	2178	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGCGCCGCCCACCGTGA	0.647000													20	22					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45781981	45781981	+	Silent	SNP	A	A	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:45781981A>C	ENST00000320560.8	+	11	1405	c.1203A>C	c.(1201-1203)gcA>gcC	p.A401A	ANO6_ENST00000423947.3_Silent_p.A422A|ANO6_ENST00000435642.1_Silent_p.A401A|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.A383A|ANO6_ENST00000425752.2_Silent_p.A401A	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	401					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACGCCAGGCAGAACTTGAGT	0.418000													16	105					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187534320	187534320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:187534320C>G	ENST00000441802.2	-	13	9615	c.9406G>C	c.(9406-9408)Gaa>Caa	p.E3136Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3136	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E3136*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTGTTTTCAAACACGGTG	0.542000										HNSCC(5;0.00058)			11	20					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942988	118942988	+	Silent	SNP	C	C	T	rs149358643	byFrequency	TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:118942988C>T	ENST00000467604.1	-	5	982	c.591G>A	c.(589-591)ctG>ctA	p.L197L	B4GALT4_ENST00000359213.3_Silent_p.L197L|B4GALT4_ENST00000393765.2_Silent_p.L197L|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000483209.1_Silent_p.L197L			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	197					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCTCGGGTACCAGGTCCACAT	0.463000													9	65					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319166	70319166	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:70319166C>A	ENST00000338508.4	-	33	5360	c.5361G>T	c.(5359-5361)tgG>tgT	p.W1787C	SHANK2_ENST00000423696.2_Missense_Mutation_p.W1407C|SHANK2_ENST00000449833.2_Missense_Mutation_p.W1191C|SHANK2_ENST00000409161.1_Missense_Mutation_p.W1190C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1407					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGGTTTAGTCCACAGGTGGA	0.493000													25	76					1.36565e-18	1.61076e-18	1	1	0
CYP2A7	1549	broad.mit.edu	37	19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587000													15	52					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41279525	41279525	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:41279525G>C	ENST00000349496.5	+	14	2375	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.D699H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D699H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D692H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D699H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	699					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTTGGACTTGATATTGGTGC	0.358000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				45	111					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578230	67578230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:67578230G>A	ENST00000540839.3	+	16	2906	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	FAM65A_ENST00000379312.3_Missense_Mutation_p.E881K|FAM65A_ENST00000422602.2_Missense_Mutation_p.E897K|FAM65A_ENST00000428437.2_Missense_Mutation_p.E891K|FAM65A_ENST00000042381.4_Missense_Mutation_p.E877K			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	881						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGCTGGGGCTGAGGACAGCAT	0.612000													56	91					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310276	24310276	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:24310276T>C	ENST00000357002.4	+	4	1589	c.1474T>C	c.(1474-1476)Tgt>Cgt	p.C492R	ZNF254_ENST00000342944.6_Missense_Mutation_p.C407R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	492					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACCCTACAAATGTGAAGAATG	0.398000													34	92					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463184	10463184	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:10463184A>G	ENST00000525621.1	-	23	3725	c.3244T>C	c.(3244-3246)Tca>Cca	p.S1082P	TYK2_ENST00000524462.1_Missense_Mutation_p.S897P|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.S1082P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1082	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGACATCTGACGCATAGTAG	0.642000													33	108					0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	111996976	111996976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:111996976C>T	ENST00000369722.3	+	3	827	c.221C>T	c.(220-222)aCa>aTa	p.T74I	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	74					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACTGGTGTAACAGGTGAGCAT	0.403000													43	84					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70341528	70341528	+	Silent	SNP	T	T	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:70341528T>C	ENST00000333646.6	+	7	1162	c.963T>C	c.(961-963)tcT>tcC	p.S321S	MED12_ENST00000374080.3_Silent_p.S321S|MED12_ENST00000374102.1_Silent_p.S321S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	321					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATGTTATATCTGCTCAGTCAA	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						25	64					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85901274	85901274	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:85901274G>A	ENST00000372134.3	+	2	211	c.18G>A	c.(16-18)ctG>ctA	p.L6L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	6					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CTGCAAGGCTGGTGTGTCTCC	0.458000													15	58					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53180686	53180686	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr14:53180686G>T	ENST00000445930.2	+	7	577	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C	PSMC6_ENST00000606149.1_Splice_Site_p.G177C			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGGACCACCAGGTTGGTATTG	0.303000													13	45					2.61681e-11	2.91814e-11	1	1	0
TMEM151A	256472	broad.mit.edu	37	11	66061853	66061853	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:66061853C>T	ENST00000327259.4	+	2	280	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	46						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTGGAAGTGCCTGCTCCTCAC	0.697000													13	44					0	0	1	0	0
HMX3	340784	broad.mit.edu	37	10	124896932	124896932	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:124896932C>T	ENST00000357878.5	+	2	848	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	253					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		GCTATCTGAGCAGCTCGGAGC	0.632000													9	38					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37915099	37915099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr22:37915099G>A	ENST00000403299.1	-	2	325	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CARD10_ENST00000251973.5_Missense_Mutation_p.R37W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	37	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R37W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGAGCCAGCCGATGCCGGACG	0.736000													6	6					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416711	43416711	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:43416711C>A	ENST00000244533.3	+	17	4327	c.3968C>A	c.(3967-3969)gCc>gAc	p.A1323D	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1351D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1351	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGGACAGGGCCTTGTGGCAG	0.582000													26	63					7.26314e-15	8.45834e-15	1	1	0
MEDAG	84935	broad.mit.edu	37	13	31495929	31495929	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr13:31495929C>A	ENST00000380482.4	+	4	1058	c.733C>A	c.(733-735)Cct>Act	p.P245T	TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis																		AATGAGTGAGCCTTTAATCCG	0.348000													4	51					2.56e-06	2.75462e-06	1	1	0
RNLS	55328	broad.mit.edu	37	10	90332802	90332802	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:90332802G>A	ENST00000371947.3	-	4	1723	c.384C>T	c.(382-384)ttC>ttT	p.F128F	RNLS_ENST00000331772.4_Silent_p.F128F|RNLS_ENST00000437752.1_Silent_p.F45F|RNLS_ENST00000466945.1_Intron	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	128						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CACGATGTCTGAAGTAGACTT	0.408000													73	84					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7697620	7697620	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:7697620G>T	ENST00000572933.1	+	49	9078	c.7618G>T	c.(7618-7620)Gtc>Ttc	p.V2540F	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2540F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2540	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGACGGACTGTCATCTCCCC	0.612000													15	43					6.49762e-13	7.33474e-13	1	1	0
CCDC120	90060	broad.mit.edu	37	X	48922603	48922603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:48922603C>T	ENST00000376396.3	+	7	875	c.656C>T	c.(655-657)tCa>tTa	p.S219L	CCDC120_ENST00000422185.2_Missense_Mutation_p.S219L|CCDC120_ENST00000597275.1_Missense_Mutation_p.S219L|CCDC120_ENST00000496529.2_Missense_Mutation_p.S219L|CCDC120_ENST00000536628.2_Missense_Mutation_p.S207L|CCDC120_ENST00000603986.1_Missense_Mutation_p.S254L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	219							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGCTCCCTCTCAGAGTCTGGG	0.607000													16	32					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71806565	71806565	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:71806565G>A	ENST00000289488.2	+	6	956	c.578G>A	c.(577-579)tGa>tAa	p.*193*	LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000539587.1_3'UTR|LRTOMT_ENST00000538478.1_Silent_p.*193*|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000423494.2_Silent_p.*175*|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000541614.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000447974.1_Intron|LRTOMT_ENST00000440313.2_Intron	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	0						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						AATACACTTTGAGGCTCCCAC	0.483000													6	24					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488485	51488485	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:51488485C>A	ENST00000340438.4	+	1	2005	c.1763C>A	c.(1762-1764)aCa>aAa	p.T588K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	588					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGTTTAAGGACAGCAGGAACC	0.423000													28	49					5.61819e-17	6.58437e-17	1	1	0
PRX	57716	broad.mit.edu	37	19	40902929	40902929	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:40902929G>T	ENST00000324001.7	-	7	1600	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	444	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTTGGGGAGCTTCACTTCA	0.592000													46	153					2.47872e-24	2.98095e-24	1	1	0
RYR1	6261	broad.mit.edu	37	19	38934384	38934384	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:38934384C>G	ENST00000355481.4	+	5	503	c.372C>G	c.(370-372)cgC>cgG	p.R124R	RYR1_ENST00000359596.3_Silent_p.R124R|RYR1_ENST00000360985.3_Silent_p.R124R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	124	MIR 1.				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			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)	CCACCTCCCGCTCCATGACTG	0.657000													14	143					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142222229	142222229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:142222229G>C	ENST00000350721.4	-	30	5384	c.5263C>G	c.(5263-5265)Cag>Gag	p.Q1755E	ATR_ENST00000383101.3_Missense_Mutation_p.Q1691E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1755	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATTCACCTGAGTGATAACA	0.294000								Other conserved DNA damage response genes					14	26					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:46174547C>T	ENST00000590918.1	+	4	276	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GIPR_ENST00000263281.3_Silent_p.L59L|GIPR_ENST00000304207.8_Intron	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667000													63	83					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49507641	49507641	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:49507641C>G	ENST00000413176.2	+	4	1244	c.96C>G	c.(94-96)ggC>ggG	p.G32G	RUVBL2_ENST00000595090.1_Silent_p.G77G|RUVBL2_ENST00000601968.1_Silent_p.G32G			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	77					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TTATTGCTGGCCAGCCGGGCA	0.617000													20	172					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2425967	2425967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:2425967C>T	ENST00000332578.3	+	17	3061	c.3061C>T	c.(3061-3063)Cgg>Tgg	p.R1021W	TIMM13_ENST00000215570.3_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	1021	Peptidase S1 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTCTGGACGGTGGGTGCT	0.652000													32	122					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119252873	119252873	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:119252873G>A	ENST00000296498.3	-	4	1251	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	323	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAACAAACCTGAGGCCCAGCT	0.458000													6	42					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396831	55396831	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:55396831C>T	ENST00000355524.3	+	3	265	c.255C>T	c.(253-255)ttC>ttT	p.F85F	FCAR_ENST00000391724.3_Silent_p.F73F|FCAR_ENST00000345937.4_Silent_p.F85F|FCAR_ENST00000391726.3_Silent_p.F73F|FCAR_ENST00000391723.3_Silent_p.F73F|FCAR_ENST00000359272.4_Silent_p.F73F|FCAR_ENST00000391725.3_Silent_p.F85F|FCAR_ENST00000469767.1_Silent_p.F85F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	85	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATCCTGAGTTCGTCATTGACC	0.488000													34	57					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250570	43250570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:43250570C>T	ENST00000259750.4	+	14	2175	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	698						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTACCGAGAACGGGCGCGGTT	0.622000													54	112					0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39134945	39134945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr22:39134945G>A	ENST00000405510.1	-	16	2070	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M	SUN2_ENST00000411587.2_Missense_Mutation_p.T560M|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.T571M|SUN2_ENST00000405018.1_Missense_Mutation_p.T592M|SUN2_ENST00000216064.4_Missense_Mutation_p.T571M	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	571	SUN.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GAGGAGGGCCGTCTTGGTCTC	0.672000													12	19					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57829005	57829005	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:57829005C>T	ENST00000379655.4	-	3	478	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	74					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGCTGCACTTCGGGCACTGGA	0.637000													8	47					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420213	49420213	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:49420213C>T	ENST00000301067.7	-	48	15535	c.15536G>A	c.(15535-15537)cGt>cAt	p.R5179H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R4909L(1)|p.R5179L(1)									GCCCCCCACACGGAACATGTG	0.592000													29	40					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649385	69649385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:69649385C>T	ENST00000453994.2	+	11	1340	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	GDPD2_ENST00000374382.3_Nonsense_Mutation_p.Q327*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.Q248*|GDPD2_ENST00000538649.1_Nonsense_Mutation_p.Q248*|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	327	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					AGGCCCTGATCAGAAAGAGGC	0.547000													13	39					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651312	77651312	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr13:77651312G>T	ENST00000407578.2	-	67	11961	c.11695C>A	c.(11695-11697)Ctg>Atg	p.L3899M	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L3861M|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L3861M|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATACTCGCAGAGTCTCAGCT	0.413000													10	46					4.68919e-08	5.16653e-08	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197878289	197878289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:197878289C>T	ENST00000328737.2	-	18	1871	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A616T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A599T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A599T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	624							protein binding	p.A599T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGATGGATGCGCCCTGATTG	0.498000													4	168					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203397424	203397424	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:203397424G>A	ENST00000374580.4	+	9	1784	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	BMPR2_ENST00000374574.2_Silent_p.E415E	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	415	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCTATTGGGAGATATTTATGA	0.378000													27	19					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996238	28996238	+	RNA	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:28996238C>T	ENST00000322982.3	-	0	1696							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GGTTGCCTACCAGCTCCCTGG	0.751000													15	23					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57220371	57220371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:57220371C>T	ENST00000205214.6	-	8	1397	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.R406K|AASDH_ENST00000513376.1_Missense_Mutation_p.R306K|AASDH_ENST00000451613.1_Missense_Mutation_p.R406K|AASDH_ENST00000602986.1_Missense_Mutation_p.R253K	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	406					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CACTCTGTTTCTGCCACCTTC	0.363000													30	33					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139211	58139211	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:58139211C>T	ENST00000295956.4	+	39	6642	c.6477C>T	c.(6475-6477)ccC>ccT	p.P2159P	FLNB_ENST00000419752.2_Silent_p.P1979P|FLNB_ENST00000490882.1_Silent_p.P2190P|FLNB_ENST00000429972.2_Silent_p.P2148P|FLNB_ENST00000493452.1_Silent_p.P1966P|FLNB_ENST00000358537.3_Silent_p.P2135P|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.P2118P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2159	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTGTGCCCCAGGAGATGG	0.637000													23	63					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17127355	17127355	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:17127355G>C	ENST00000285071.4	-	6	953	c.499C>G	c.(499-501)Cag>Gag	p.Q167E	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.Q167E	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	167					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TACCAGCGCTGGAAGCCCCTG	0.582000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				13	29					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148545858	148545858	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:148545858G>A	ENST00000491148.1	+	3	475	c.141G>A	c.(139-141)acG>acA	p.T47T	CPB1_ENST00000282957.4_Silent_p.T47T			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	47					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCCAGCACGACCCAGGTAA	0.353000													21	48					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	42					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56641954	56641954	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:56641954G>C	ENST00000267116.7	-	18	1952	c.1831C>G	c.(1831-1833)Ctg>Gtg	p.L611V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	611							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTTACGTCCAGATTCACCAGC	0.632000													50	122					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023847	6023847	+	Missense_Mutation	SNP	G	G	T	rs141472568		TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:6023847G>T	ENST00000574946.1	+	9	1984	c.1594G>T	c.(1594-1596)Ggc>Tgc	p.G532C	WSCD1_ENST00000574232.1_Missense_Mutation_p.G532C|WSCD1_ENST00000539421.1_Missense_Mutation_p.G532C|WSCD1_ENST00000317744.5_Missense_Mutation_p.G532C|WSCD1_ENST00000573634.1_Missense_Mutation_p.G416C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	532						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCGGCGGCGCGGCCGGCGCTC	0.637000													24	60					4.54149e-19	5.39118e-19	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6022425	6022425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr20:6022425G>A	ENST00000378858.4	-	5	1690	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	489						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCGGTCCCACGAGGTAGGGAA	0.642000													38	80					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9476091	9476091	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:9476091C>G	ENST00000402198.1	+	5	686	c.251C>G	c.(250-252)tCt>tGt	p.S84C	SETD5_ENST00000406341.1_Missense_Mutation_p.S84C|SETD5_ENST00000407969.1_Missense_Mutation_p.S103C|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532000													21	42					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158695103	158695103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:158695103G>A	ENST00000407559.3	+	10	1332	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	392										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGGTGATGATGATGAAAG	0.348000													13	49					0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3574458	3574458	+	Silent	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:3574458G>C	ENST00000333651.6	+	4	300	c.225G>C	c.(223-225)acG>acC	p.T75T		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	75					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGGTCACGGGCTACGTGC	0.652000													7	19					0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249222	20249222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:20249222G>C	ENST00000375116.3	-	2	124	c.67C>G	c.(67-69)Cag>Gag	p.Q23E		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	23					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCAAACTGAACCAGGTTC	0.612000													28	67					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107930872	107930872	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:107930872C>G	ENST00000328300.6	+	49	4720	c.4476C>G	c.(4474-4476)ggC>ggG	p.G1492G	COL4A5_ENST00000361603.2_Silent_p.G1486G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1486	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTATGAAGGCTTTTCTCTCC	0.438000									Alport syndrome with Diffuse Leiomyomatosis				43	129					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401051	10401051	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:10401051C>T	ENST00000226207.5	-	31	4459	c.4365G>A	c.(4363-4365)aaG>aaA	p.K1455K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1455						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGAGAATACCTTATCAAAGT	0.448000													28	36					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717128	73717128	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:73717128C>G	ENST00000264448.6	+	10	8150	c.8039C>G	c.(8038-8040)tCa>tGa	p.S2680*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.S2638*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2680					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCTTGGCTGTCAGAATTAGTA	0.398000													121	162					0	0	1	0	0
USP27X	389856	broad.mit.edu	37	X	49645630	49645630	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:49645630C>T	ENST00000508866.2	+	1	1161	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	240					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)	7						GCACCTCCTTCTGGCCCATGA	0.582000													5	6					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197114	8197114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr8:8197114C>G	ENST00000520004.1	-	4	2458	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q	SGK223_ENST00000330777.4_Missense_Mutation_p.E732Q			Q86YV5	SG223_HUMAN		732							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCACTTTTTCCAAATCAGAG	0.502000													30	34					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48304106	48304106	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:48304106G>T	ENST00000285737.4	+	7	1255	c.1162G>T	c.(1162-1164)Gtg>Ttg	p.V388L	LONP2_ENST00000535754.1_Missense_Mutation_p.V344L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	388					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGATCAGTGGCCAAGAC	0.478000													4	91					0.150653	0.151477	1	1	0
RP1	6101	broad.mit.edu	37	8	55537771	55537771	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr8:55537771G>C	ENST00000220676.1	+	4	1477	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	443					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCAAGCAAAGCATCGTTTTT	0.438000													19	85					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68712084	68712084	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:68712084C>G	ENST00000264012.4	+	4	838	c.294C>G	c.(292-294)tcC>tcG	p.S98S	CDH3_ENST00000581171.1_Silent_p.S43S|CDH3_ENST00000429102.2_Silent_p.S98S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	98					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCTTCCCATCCAAACGTATCT	0.473000													41	202					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696133	54696133	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:54696133G>A	ENST00000230640.5	+	21	2619	c.2365G>A	c.(2365-2367)Ggg>Agg	p.G789R	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.G688R	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	789					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCAAGATCAAGGGCTGAAAAA	0.363000													8	22					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188482	140188482	+	Silent	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:140188482G>T	ENST00000530339.1	+	1	1710	c.1710G>T	c.(1708-1710)gcG>gcT	p.A570A	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A570A|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.A570A|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCGGGCGGGTGGCACTG	0.677000													23	83					2.70639e-06	2.89521e-06	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769557	31769557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:31769557C>T	ENST00000240587.4	-	2	1469	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	381					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCGACTTCCGGGCCTCAAA	0.552000													4	246					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466376	57466376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:57466376G>C	ENST00000287169.3	+	11	2830	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.E437Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	490						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GGCAGGGCCTGAGCCAGACCC	0.577000													15	66					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587268	55587268	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:55587268C>T	ENST00000373965.2	-	33	4667	c.4273G>A	c.(4273-4275)Gca>Aca	p.A1425T	PCDH15_ENST00000395432.2_Missense_Mutation_p.A1378T|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1420T|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1418T|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1415T|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1425T|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1418T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1393T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1029T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1347T|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1418T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1418					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGGGTAATGCGGCCTGAATT	0.532000										HNSCC(58;0.16)			36	34					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691587	26691587	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:26691587G>C	ENST00000436292.1	-	4	570	c.450C>G	c.(448-450)ttC>ttG	p.F150L	ZNF683_ENST00000349618.3_Missense_Mutation_p.F150L|ZNF683_ENST00000403843.1_Missense_Mutation_p.F150L|ZNF683_ENST00000374204.1_Missense_Mutation_p.F150L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TATGAGAGGAGAAGGCTGGGC	0.577000													6	15					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995228	140995228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:140995228G>A	ENST00000285879.4	+	4	2324	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	680							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAGTCCTGAGAGTGCTCC	0.567000										HNSCC(15;0.026)			57	134					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149895705	149895705	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:149895705T>A	ENST00000445323.2	+	5	492	c.371T>A	c.(370-372)aTc>aAc	p.I124N	MTMR1_ENST00000370390.3_Missense_Mutation_p.I116N|MTMR1_ENST00000451863.2_Missense_Mutation_p.I116N|MTMR1_ENST00000542156.1_Missense_Mutation_p.I116N|MTMR1_ENST00000541925.1_Missense_Mutation_p.I22N|MTMR1_ENST00000544228.1_Missense_Mutation_p.I116N|MTMR1_ENST00000538506.1_Missense_Mutation_p.I3N			Q13613	MTMR1_HUMAN	myotubularin related protein 1	116	GRAM.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGTATATCTGCCCATTT	0.383000													42	82					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65989036	65989036	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr17:65989036C>T	ENST00000536693.1	-	1	632	c.227G>A	c.(226-228)tGa>tAa	p.*76*	C17orf58_ENST00000334461.7_Silent_p.*76*|C17orf58_ENST00000449250.2_Intron			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	0										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAATCCCATTCATGTCATTGT	0.522000													16	42					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934386	38934386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:38934386C>T	ENST00000355481.4	+	5	505	c.374C>T	c.(373-375)tCc>tTc	p.S125F	RYR1_ENST00000359596.3_Missense_Mutation_p.S125F|RYR1_ENST00000360985.3_Missense_Mutation_p.S125F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	125	MIR 1.				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			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)	ACCTCCCGCTCCATGACTGAC	0.652000													14	141					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870141	131870141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:131870141C>G	ENST00000359827.3	-	16	4037	c.3075G>C	c.(3073-3075)agG>agC	p.R1025S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1025S			Q9HCM2	PLXA4_HUMAN	plexin A4	1025	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATCTTGGCCCTGTCCACCT	0.557000													8	66					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644645	20644645	+	RNA	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr15:20644645G>A	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCTCTGAGTGATGGCACTAC	0.632000													3	19					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118533598	118533598	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:118533598C>A	ENST00000359236.5	-	2	377	c.101G>T	c.(100-102)gGa>gTa	p.G34V	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	34	Ig-like C2-type 1.			GEVH -> WRSY (in Ref. 1; BAA91322).		integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ATGAACTTCTCCAATGACAAC	0.478000													5	24					3.59834e-05	3.80514e-05	1	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363438	21363438	+	RNA	SNP	T	T	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr22:21363438T>A	ENST00000452284.1	+	0	1105				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						CCCAGACGACTGAGGTTGGTG	0.522000													9	71					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270315	113270315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:113270315G>T	ENST00000303941.3	+	8	1718	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	542							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CAAAGTGAGGGCCATCCAACA	0.607000													5	13					0.014758	0.0149202	1	1	0
ZNF554	115196	broad.mit.edu	37	19	2834826	2834826	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:2834826G>A	ENST00000317243.5	+	5	1791	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCTACCAGAACAGACATC	0.423000													18	76					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57220348	57220348	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:57220348C>G	ENST00000205214.6	-	8	1420	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.D414H|AASDH_ENST00000513376.1_Missense_Mutation_p.D314H|AASDH_ENST00000451613.1_Missense_Mutation_p.D414H|AASDH_ENST00000602986.1_Missense_Mutation_p.D261H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	414					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTCACTTCATCATCAAGAAAA	0.373000													32	31					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872106	213872106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:213872106C>T	ENST00000457361.1	-	8	1727	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	IKZF2_ENST00000342002.2_Missense_Mutation_p.R526Q|IKZF2_ENST00000421754.2_Missense_Mutation_p.R446Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.R520Q|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374327.4_Missense_Mutation_p.R375Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.R494Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.R448Q	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTGCTCCCCTCGAACAATGTG	0.478000													60	29					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012124	53012124	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:53012124G>A	ENST00000305748.3	-	1	219	c.185C>T	c.(184-186)gCc>gTc	p.A62V		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	62	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCCACTGGCCACATTGAA	0.632000													55	267					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31629802	31629802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr20:31629802C>T	ENST00000349552.1	+	12	1169	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	390						extracellular region	lipid binding										CGGAAGTCCTCATCGATTGGC	0.602000													35	54					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90473225	90473225	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:90473225G>A	ENST00000370447.3	+	5	385	c.264G>A	c.(262-264)acG>acA	p.T88T	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000340281.4_Silent_p.T177T			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326		Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGAGGAACGCCTGCTTATC	0.493000													9	72					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712241	140712241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr5:140712241G>A	ENST00000517417.1	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V664M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.682000													27	90					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809278	122809278	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:122809278G>A	ENST00000194130.2	-	4	516	c.477C>T	c.(475-477)atC>atT	p.I159I	SLC13A1_ENST00000539873.1_Silent_p.I95I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	159						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CTTCTGCATTGATGATCTGCT	0.502000													10	49					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608796	33608796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:33608796C>G	ENST00000170564.2	+	16	2576	c.2262C>G	c.(2260-2262)ttC>ttG	p.F754L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	754						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGGACTTATTCAGGGCCATCT	0.517000													62	76					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35322104	35322104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:35322104G>A	ENST00000374748.1	-	12	1413	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	CUL2_ENST00000374749.3_Missense_Mutation_p.A367V|CUL2_ENST00000374751.3_Missense_Mutation_p.A367V|CUL2_ENST00000374742.1_Missense_Mutation_p.A367V|CUL2_ENST00000537177.1_Missense_Mutation_p.A386V|CUL2_ENST00000602371.1_Missense_Mutation_p.A310V|CUL2_ENST00000374746.1_Missense_Mutation_p.A367V			Q13617	CUL2_HUMAN	cullin 2	367					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTTATCCAACGCACTCATAAA	0.323000													11	38					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56642650	56642650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:56642650G>C	ENST00000267116.7	-	16	1718	c.1597C>G	c.(1597-1599)Ctg>Gtg	p.L533V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	533							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AAGAACTCCAGACAGCTGGGG	0.637000													6	13					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163984777	163984777	+	Silent	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr6:163984777A>G	ENST00000392127.2	+	6	1511	c.960A>G	c.(958-960)taA>taG	p.*320*	QKI_ENST00000361752.3_Intron|QKI_ENST00000424802.3_Intron|QKI_ENST00000275262.7_Intron|QKI_ENST00000361195.2_Intron|QKI_ENST00000453779.2_Intron			Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	0					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CATGGGGTTAACAACATTCTC	0.388000													6	39					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47282001	47282001	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:47282001C>T	ENST00000542575.2	-	5	1617	c.989G>A	c.(988-990)cGc>cAc	p.R330H	SLC1A5_ENST00000594991.1_Missense_Mutation_p.R154H|SLC1A5_ENST00000434726.2_Missense_Mutation_p.R128H|SLC1A5_ENST00000412532.2_Missense_Mutation_p.R102H	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	330					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGGGTTTTTGCGGGTGAAGAG	0.607000													4	98					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119617367	119617367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:119617367G>A	ENST00000281938.2	+	1	921	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	84					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	p.E84K(2)|p.E84*(2)|p.E84Q(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCCTGCCGAGGGCAGGAC	0.657000													29	45					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932056	32932056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:32932056C>T	ENST00000383763.5	+	4	1423	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTGCAGCCCCAGGAAGACGA	0.617000													42	100					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	13					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115453048	115453048	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:115453048A>G	ENST00000369522.3	+	17	1591	c.1351A>G	c.(1351-1353)Aaa>Gaa	p.K451E	SYCP1_ENST00000369518.1_Missense_Mutation_p.K451E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	451					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATGAAAATAAACAATTTGA	0.308000													10	55					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60407256	60407256	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr13:60407256G>A	ENST00000400324.4	-	24	3232	c.3012C>T	c.(3010-3012)ttC>ttT	p.F1004F	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.F958F|DIAPH3_ENST00000400319.1_Silent_p.F934F|DIAPH3_ENST00000267215.4_Silent_p.F1004F|DIAPH3_ENST00000377908.2_Silent_p.F993F|DIAPH3_ENST00000400330.1_Silent_p.F1004F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1004	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATGTGGTTCTGAAGTTATTCA	0.303000													8	35					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567415	30567415	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:30567415C>G	ENST00000395091.2	-	3	639	c.324G>C	c.(322-324)aaG>aaC	p.K108N	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.K109N			Q96H86	ZN764_HUMAN	zinc finger protein 764	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TTTCCTTTTTCTTGTTTCTGG	0.617000													27	30					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1084794	1084794	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:1084794C>T	ENST00000441003.2	+	20	2616	c.2589C>T	c.(2587-2589)taC>taT	p.Y863Y	MUC2_ENST00000359061.5_Silent_p.Y863Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	863	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTCCATTTACGGGAGTGGCC	0.597000													4	7					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68716312	68716312	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:68716312C>T	ENST00000264012.4	+	9	1648	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	CDH3_ENST00000581171.1_Silent_p.I313I|CDH3_ENST00000429102.2_Silent_p.I368I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	368	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCTACCTTATCATGGGCGGTG	0.602000													40	157					0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150845919	150845919	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:150845919C>A	ENST00000297537.4	-	2	848	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	283						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGTATTTCTTGCAATGAA	0.552000													15	72					2.31682e-05	2.46413e-05	1	1	0
ASPM	259266	broad.mit.edu	37	1	197070919	197070919	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:197070919G>C	ENST00000367409.4	-	18	7718	c.7462C>G	c.(7462-7464)Cag>Gag	p.Q2488E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2488	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAGTAGCCTGAATGAGAACT	0.368000													24	83					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6870591	6870591	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr18:6870591G>T	ENST00000419673.2	+	6	554	c.337G>T	c.(337-339)Gat>Tat	p.D113Y	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D272Y|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D108Y|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D113Y|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D95Y|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D220Y|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D272Y|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D113Y	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	95					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTCTTTAGATGATGATTTTCT	0.299000													24	18					3.5997e-14	4.13965e-14	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103444470	103444470	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:103444470C>T	ENST00000358392.2	-	34	3009		c.e34-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGAGGACCCTGCAGATGAG	0.373000													25	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113348998	113348998	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr8:113348998T>C	ENST00000297405.5	-	44	7146	c.6902A>G	c.(6901-6903)gAt>gGt	p.D2301G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2231G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2197G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2261G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2301	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGATATTCATCAGGATACCC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	66					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719339	74719339	+	Silent	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:74719339C>T	ENST00000410003.1	+	10	1011	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Silent_p.L334L			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	334							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTTGAAGCTCAACCCCCAGG	0.547000													56	67					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483150	17483150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr11:17483150C>T	ENST00000302539.4	-	5	927	c.802G>A	c.(802-804)Gag>Aag	p.E268K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E268K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	268					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCAAAGGCCTCGCAGAGCCGT	0.592000													21	46					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245474	46245474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr12:46245474G>T	ENST00000334344.6	+	15	3740	c.3568G>T	c.(3568-3570)Gga>Tga	p.G1190*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.G1041*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.G800*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1190					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGTGAGTCAGGGAAATGCAAC	0.493000			"""N, S, F"""		hepatocellular carcinoma								29	54					9.39395e-14	1.07359e-13	1	1	0
ZMAT5	55954	broad.mit.edu	37	22	30136682	30136682	+	Silent	SNP	G	G	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr22:30136682G>A	ENST00000397781.3	-	5	478	c.228C>T	c.(226-228)caC>caT	p.H76H	ZMAT5_ENST00000344318.3_Silent_p.H76H	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	76					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GCTCTGACATGTGGGAAAATC	0.637000													3	12					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	175	---	---	---	---					
CTD-2090I13.1	0	broad.mit.edu	37	1	227618721	227618722	+	RNA	INS	-	-	A	rs71180749		TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr1:227618721_227618722insA	ENST00000445817.1	+	0	1956_1957																											GTTTATATACCAAAAAAAAAAA	0.436													2	4	---	---	---	---					
SMC6	79677	broad.mit.edu	37	2	17888586	17888586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr2:17888586delC	ENST00000448223.2	-	18	2175	c.1906delG	c.(1906-1908)gctfs	p.A636fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.A636fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.A662fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.A636fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	636	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAGTAAAAGCTTCTCTACAA	0.348													42	57	---	---	---	---					
CCR8	1237	broad.mit.edu	37	3	39374771	39374772	+	Frame_Shift_Ins	INS	-	-	AAAGT			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr3:39374771_39374772insAAAGT	ENST00000326306.4	+	2	1087_1088	c.949_950insAAAGT	c.(949-951)aaafs	p.-318fs	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Frame_Shift_Ins_p.-235fs	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8						cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AATATTTCAGAAAAGTTGCAGC	0.446													10	119	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729													3	5	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224788	23224789	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr7:23224788_23224789delAT	ENST00000258742.5	+	2	480_481	c.221_222delAT	c.(220-222)gatfs	p.D74fs	NUPL2_ENST00000410002.3_Frame_Shift_Del_p.D74fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	74					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCAGCAGAGATCAAGAAAAGC	0.441													48	125	---	---	---	---					
NFX1	4799	broad.mit.edu	37	9	33351645	33351646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr9:33351645_33351646insA	ENST00000379540.3	+	16	2574_2575	c.2512_2513insA	c.(2512-2514)cagfs	p.Q838fs	NFX1_ENST00000379521.4_Frame_Shift_Ins_p.Q838fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	838					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GCACAAATGTCAGAGACTCTGT	0.564													35	42	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	9	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													12	262	---	---	---	---					
LPIN2	9663	broad.mit.edu	37	18	2954510	2954511	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr18:2954510_2954511insA	ENST00000261596.4	-	3	517_518	c.279_280insT	c.(277-282)gaagaafs	p.E94fs	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	94	N-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACATATTCTTCTTCAGTCTCCT	0.450													13	62	---	---	---	---					
ZNF180	7733	broad.mit.edu	37	19	44981140	44981141	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chr19:44981140_44981141insT	ENST00000221327.4	-	5	1838_1839	c.1557_1558insA	c.(1555-1560)aaacccfs	p.P520fs	ZNF180_ENST00000592529.1_Frame_Shift_Ins_p.P493fs|ZNF180_ENST00000391956.4_Frame_Shift_Ins_p.P495fs	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCAAAGGGTTTTTCTCCTG	0.411													14	118	---	---	---	---					
FANCB	2187	broad.mit.edu	37	X	14862694	14862702	+	In_Frame_Del	DEL	CTTCCCGGT	CTTCCCGGT	-	rs147255018	byFrequency	TCGA-DK-A6AV-01A-12D-A30E-08	TCGA-DK-A6AV-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d104cd81-e581-421d-a949-16cff9bca661	775b12a0-3955-44df-9cdb-4656cc5c43e5	g.chrX:14862694_14862702delCTTCCCGGT	ENST00000398334.1	-	9	2355_2363	c.2088_2096delACCGGGAAG	c.(2086-2097)agaccgggaagt>agt	p.RPG696del	FANCB_ENST00000324138.3_In_Frame_Del_p.RPG696del	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	696					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCCATAGAAACTTCCCGGTCTTTCACAAA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	107	---	---	---	---