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
TRRAP	8295	broad.mit.edu	37	7	98524941	98524941	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:98524941G>A	ENST00000359863.4	+	23	3336	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1043T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1042T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1043					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTCGCCAGCTTGAT	0.607000													10	39					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192250645	192250645	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:192250645G>C	ENST00000392318.3	+	16	1636	c.1389G>C	c.(1387-1389)gaG>gaC	p.E463D	MYO1B_ENST00000304164.4_Missense_Mutation_p.E463D|MYO1B_ENST00000392316.1_Missense_Mutation_p.E463D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E463D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	463	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGGATGAAGAGTGCCTCAGAC	0.428000													71	137					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66723492	66723492	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:66723492G>A	ENST00000423207.2	+	4	970	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PDE4B_ENST00000371049.3_Missense_Mutation_p.R177Q|PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000329654.4_Missense_Mutation_p.R177Q	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	177					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCCAGCTTGCGAAGTGTGAGA	0.398000													37	68					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276813	15276813	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15276813C>T	ENST00000263388.2	-	30	5527	c.5452G>A	c.(5452-5454)Gct>Act	p.A1818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1818					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGATGCTAGCTGATGTGTCA	0.602000													17	40					0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43246999	43246999	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:43246999G>A	ENST00000372889.1	+	6	810	c.225G>A	c.(223-225)tcG>tcA	p.S75S	PKIG_ENST00000372892.3_Silent_p.S75S|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372891.3_Silent_p.S75S|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Silent_p.S75S|PKIG_ENST00000372886.1_Silent_p.S75S|PKIG_ENST00000372894.3_Silent_p.S75S			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	75							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGACCACCTCGTCTTGAATCT	0.592000													40	80					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665391	138665391	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:138665391C>T	ENST00000330315.3	-	1	591	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	58			S -> L (in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCGCCACGTACGAGTACGGGG	0.692000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						25	137					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585173	158585173	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:158585173C>T	ENST00000368148.3	-	48	6801	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q	SPTA1_ENST00000368147.3_Silent_p.Q2204Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2207					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATCGCCTGGATCTCCT	0.468000													56	90					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933508	9933508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:9933508G>A	ENST00000316020.6	-	3	249	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GATTTCTTCTGCTTAGTTTGC	0.348000													4	86					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220298619	220298619	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:220298619G>A	ENST00000366922.1	+	13	1796	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	IARS2_ENST00000302637.5_Missense_Mutation_p.G561S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	561					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAACAACACGGCAGTGATAT	0.373000													16	75					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156376739	156376739	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:156376739G>A	ENST00000274532.2	-	4	739	c.683C>T	c.(682-684)tCa>tTa	p.S228L	TIMD4_ENST00000407087.3_Missense_Mutation_p.S228L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	228						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACAGTTTCTGATTCTGGAAG	0.418000													11	20					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658749	88658749	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88658749C>T	ENST00000340700.5	-	5	1123	c.672G>A	c.(670-672)aaG>aaA	p.K224K	KCNK10_ENST00000319231.5_Silent_p.K229K|KCNK10_ENST00000312350.5_Silent_p.K229K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	224					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GACTCACTTGCTTTTTCTAGG	0.468000													19	45					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972303	32972303	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:32972303C>T	ENST00000544455.1	+	27	9880	c.9653C>T	c.(9652-9654)tCt>tTt	p.S3218F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3218F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3218					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATCAGATGTCTTCTCCTAAT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	147					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080281	104080281	+	Missense_Mutation	SNP	A	A	C	rs140314436		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:104080281A>C	ENST00000265148.3	-	22	2576	c.2487T>G	c.(2485-2487)ttT>ttG	p.F829L	CENPE_ENST00000380026.3_Missense_Mutation_p.F804L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	829					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTTTGCTCAAAGTCCATAT	0.348000													29	76					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368502	18368502	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:18368502C>G	ENST00000392413.3	-	4	3807	c.3592G>C	c.(3592-3594)Gcc>Ccc	p.A1198P	KIAA1683_ENST00000600328.2_Missense_Mutation_p.A1011P|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A965P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGACCCCGGCCCGGCTGCCC	0.667000													27	73					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670849	134670849	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:134670849A>G	ENST00000398015.3	+	3	1130	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	254	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCGATGCACCTGCAAGCC	0.582000													21	306					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697000													13	14					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:184102332G>A	ENST00000204604.1	+	13	1694	c.1448G>A	c.(1447-1449)gGt>gAt	p.G483D	CHRD_ENST00000450923.1_Missense_Mutation_p.G483D|CHRD_ENST00000348986.3_Missense_Mutation_p.G443D|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.G113D	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607000													62	334					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221837	55221837	+	RNA	SNP	G	G	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:55221837G>C	ENST00000413439.1	+	0	1415																											CTGGGGAGGTGTCAGCTCAGA	0.632000													4	27					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997110	15997110	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15997110G>A	ENST00000221700.5	-	8	1022	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CYP4F2_ENST00000592328.1_Silent_p.D309D|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	309					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCTTCCCGTCTTCATCCT	0.532000													5	213					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027679	87027679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:87027679G>A	ENST00000398399.2	-	2	763	c.400C>T	c.(400-402)Cga>Tga	p.R134*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.R134*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTCTTACCTCGCCATAGGGGG	0.502000													36	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588987	179588987	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:179588987C>A	ENST00000589042.1	-	72	21339	c.21115_splice	c.e72+1	p.D7039_splice	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site_p.D6722_splice|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D5795_splice|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6722	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAACTAACCTGAAACATCA	0.388000													6	28					5.9392e-07	6.47306e-07	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2228601	2228601	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:2228601C>T	ENST00000343516.6	-	20	4338	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1416					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AACATGCTGCCGATGTCGTCC	0.741000													14	27					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288785	45288785	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:45288785C>T	ENST00000447098.2	-	21	3324	c.3313G>A	c.(3313-3315)Gtg>Atg	p.V1105M	PTCH2_ENST00000372192.3_Missense_Mutation_p.V1105M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1105					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCAGCAGCACGAGTCCATGG	0.667000									Basal Cell Nevus syndrome				5	16					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28805371	28805371	+	Splice_Site	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:28805371A>G	ENST00000422425.2	+	24	1743	c.1700_splice	c.e24+1	p.R567_splice	PLB1_ENST00000329020.6_Splice_Site_p.R266_splice|PLB1_ENST00000327757.5_Splice_Site_p.R578_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	578	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GATGATCCTCAGGTCAGACAG	0.507000													3	14					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123620499	123620499	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:123620499C>T	ENST00000373896.3	-	15	1718	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	PHF19_ENST00000419155.1_Missense_Mutation_p.R280Q|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTGCCCACCGCTTTGCCCG	0.597000													12	44					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219341590	219341590	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:219341590G>A	ENST00000258399.3	-	19	2428	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	USP37_ENST00000418019.1_Silent_p.N672N|USP37_ENST00000454775.1_Silent_p.N672N|USP37_ENST00000415516.1_Silent_p.N578N	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393000													6	109					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892837	88892837	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88892837C>T	ENST00000556553.1	+	6	1097	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SPATA7_ENST00000045347.7_Missense_Mutation_p.R212W|SPATA7_ENST00000356583.5_Missense_Mutation_p.R180W|SPATA7_ENST00000393545.4_Missense_Mutation_p.R212W			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	212					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAATTCCCACCGGTTTCAGTT	0.502000													26	73					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628230	46628230	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:46628230C>T	ENST00000470495.1	-	2	2209	c.762G>A	c.(760-762)tcG>tcA	p.S254S	HOXB3_ENST00000460160.1_Silent_p.S122S|HOXB3_ENST00000472863.1_Silent_p.S181S|HOXB3_ENST00000485909.2_Silent_p.S122S|HOXB3_ENST00000490677.1_Silent_p.S120S|HOXB3_ENST00000311626.4_Silent_p.S254S|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.S254S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.S181S|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.S254S			P14651	HXB3_HUMAN	homeobox B3	254					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCCCGACGACGAGGCCAATC	0.627000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	129					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453769	37453769	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:37453769T>C	ENST00000379826.4	-	2	400	c.58A>G	c.(58-60)Aga>Gga	p.R20G	SMAD9_ENST00000350148.5_Missense_Mutation_p.R20G|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_Missense_Mutation_p.R20G	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	20	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCTAGCAGTCTCTTCACTGCG	0.572000													25	22					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40631814	40631814	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:40631814C>T	ENST00000298910.7	+	5	538	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRK2_ENST00000343742.2_Silent_p.F160F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	160					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGATATTTTCATGTTAATTT	0.333000													19	60					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977492	46977492	+	Missense_Mutation	SNP	G	G	A	rs144411523		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:46977492G>A	ENST00000371253.2	-	11	1894	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T363M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	560	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACATTGGCACGTCACGATGTC	0.468000													22	55					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132425	8132425	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:8132425G>A	ENST00000396677.2	-	3	443	c.444C>T	c.(442-444)gaC>gaT	p.D148D	RIC3_ENST00000309737.6_Silent_p.D310D|RIC3_ENST00000539720.1_Silent_p.D261D|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Silent_p.D229D|RIC3_ENST00000335425.7_Silent_p.D128D|RIC3_ENST00000343202.4_Silent_p.D309D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	310						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGGATCCTCGTCTTCATGAA	0.488000													55	81					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36850871	36850871	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:36850871C>T	ENST00000279024.4	-	10	2668	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	799										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGAAGTCCAGCCTGCTGG	0.637000											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	62					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120128245	120128245	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:120128245C>T	ENST00000392521.2	-	47	5952	c.5897G>A	c.(5896-5898)cGa>cAa	p.R1966Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1924Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1924					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTGGGCCTCGCTTGTTGGG	0.657000													3	14					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390155	150390155	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:150390155C>T	ENST00000401000.4	+	2	354	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RPRD2_ENST00000369067.3_Missense_Mutation_p.R97C|RPRD2_ENST00000539519.1_Missense_Mutation_p.R97C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R97C			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	97	CID.						protein binding	p.R97S(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATCATATTCCGTGAATCATT	0.363000													12	144					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003749	44003749	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:44003749C>T	ENST00000372726.3	-	4	854	c.698G>A	c.(697-699)cGt>cAt	p.R233H	SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.R217H	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	233					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTGACCCAACGCAGGGTGGA	0.597000													28	52					0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50693901	50693901	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:50693901C>T	ENST00000215659.8	-	10	1146	c.831G>A	c.(829-831)ctG>ctA	p.L277L	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Silent_p.L187L	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	277	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTGCATTGGTCAGGATAGAGG	0.612000													28	70					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	23					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272721	1272721	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:1272721C>A	ENST00000447027.1	+	31	14678	c.14620C>A	c.(14620-14622)Ctg>Atg	p.L4874M	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4871M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4871	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGAACAGC	0.657000													4	95					1	1	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46605872	46605872	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:46605872T>A	ENST00000263734.3	+	11	2030	c.1520T>A	c.(1519-1521)aTg>aAg	p.M507K		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	507	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTTCGCCATGGACACAGAG	0.532000													4	75					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661499	102661499	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:102661499G>T	ENST00000315274.6	-	9	1302	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TATCATTTTGGGATAACCTGG	0.363000													40	35					6.45866e-13	7.20103e-13	1	1	0
USH1G	124590	broad.mit.edu	37	17	72915940	72915940	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:72915940G>A	ENST00000319642.1	-	2	1173	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATCCTCGCGGCCCAGTCCG	0.677000													40	100					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227261648	227261648	+	Silent	SNP	C	C	T	rs35017425	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:227261648C>T	ENST00000366769.3	-	19	3943	c.2652G>A	c.(2650-2652)tcG>tcA	p.S884S	CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Silent_p.S884S|CDC42BPA_ENST00000366767.3_Silent_p.S803S|CDC42BPA_ENST00000535525.1_Silent_p.S884S|CDC42BPA_ENST00000366766.2_Silent_p.S884S|CDC42BPA_ENST00000366764.2_Silent_p.S884S|CDC42BPA_ENST00000334218.5_Silent_p.S884S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	884					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S884S(2)|p.S803S(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATCCAGAGCCGACTGCAACT	0.388000													53	112					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	98					0.00024832	0.000267634	1	1	0
DLGAP4	22839	broad.mit.edu	37	20	35075162	35075162	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:35075162G>A	ENST00000373913.3	+	7	1950	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	DLGAP4_ENST00000339266.5_Silent_p.A490A|DLGAP4_ENST00000373907.2_Silent_p.A490A|DLGAP4_ENST00000401952.2_Silent_p.A490A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	490					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGTGAAGCGGAGTCCACAG	0.642000													10	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163803	139163803	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr8:139163803A>G	ENST00000395297.1	-	13	3085	c.2915T>C	c.(2914-2916)gTg>gCg	p.V972A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	972										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGGCATTCACTCCTCTATT	0.493000										HNSCC(54;0.14)			55	97					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737925	150737925	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:150737925C>T	ENST00000358849.4	+	12	1492	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	ABCB8_ENST00000498578.1_Missense_Mutation_p.R467C|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R484C|ABCB8_ENST00000542328.1_Missense_Mutation_p.R379C	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	484						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACCCCTGCCGCCCCGGCTT	0.672000													5	9					0	0	1	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35665131	35665131	+	Silent	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:35665131C>A	ENST00000378387.3	-	1	153	c.36G>T	c.(34-36)gtG>gtT	p.V12V	ARHGEF39_ENST00000343259.3_Silent_p.V12V|ARHGEF39_ENST00000378395.2_Intron|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39																		GCTGCTCTTGCACCGGGCACC	0.687000													3	5					0.00909568	0.00948689	1	1	0
MUC4	4585	broad.mit.edu	37	3	195491938	195491938	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:195491938G>A	ENST00000463781.3	-	10	14313	c.13854C>T	c.(13852-13854)ggC>ggT	p.G4618G	MUC4_ENST00000349607.4_Silent_p.G331G|MUC4_ENST00000346145.4_Silent_p.G382G|MUC4_ENST00000475231.1_Silent_p.G4566G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1375					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCAGCACACGCCTCCTCGCC	0.647000													13	85					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33036573	33036573	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:33036573C>T	ENST00000330899.4	+	7	943	c.758_splice	c.e7-1	p.R254_splice	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Splice_Site_p.R97_splice	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	254					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTTATGCAGACGAGGAGAAGA	0.378000													9	42					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475695	44475695	+	Silent	SNP	G	G	A	rs140834307		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:44475695G>A	ENST00000372310.3	-	4	426	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Silent_p.F22F|SLC6A9_ENST00000537678.1_Silent_p.F22F|SLC6A9_ENST00000360584.2_Silent_p.F160F|SLC6A9_ENST00000357730.2_Silent_p.F106F|SLC6A9_ENST00000372306.3_Silent_p.F87F|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	160						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAAACTGGCCGAAGGAGAGCT	0.592000													49	30					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	79					5.9392e-07	6.47306e-07	1	1	0
GPR107	57720	broad.mit.edu	37	9	132889813	132889813	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:132889813G>A	ENST00000372406.1	+	18	2059	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	GPR107_ENST00000372410.3_Missense_Mutation_p.A489T|GPR107_ENST00000347136.6_Missense_Mutation_p.A470T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	518						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CCTCAAACTCGCTGTTCCATT	0.418000													4	71					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11744452	11744452	+	Translation_Start_Site	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:11744452G>A	ENST00000404339.1	-	0	407				VGLL4_ENST00000273038.3_Silent_p.D19D			Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TACGTTTTTCGTCATCAGCAT	0.398000													18	36					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65827389	65827389	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:65827389G>A	ENST00000528302.1	+	12	1541	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	SF3B2_ENST00000322535.6_Missense_Mutation_p.G513D			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	513					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TACCTGCAGGGCAAACGGGGC	0.592000													4	104					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210565034	210565034	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:210565034T>A	ENST00000360351.4	+	10	5062	c.4556T>A	c.(4555-4557)gTa>gAa	p.V1519E	MAP2_ENST00000447185.1_Missense_Mutation_p.V1515E|MAP2_ENST00000361559.4_Missense_Mutation_p.V163E|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.V163E|MAP2_ENST00000392194.1_Missense_Mutation_p.V163E	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1519					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCTCCCAGTGTATTTAAACAG	0.358000													44	81					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802212	67802212	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:67802212C>A	ENST00000544246.1	-	2	1052	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	PCDH9_ENST00000328454.5_Missense_Mutation_p.D121Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.D121Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D121Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D121Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	121	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAAGAAATCATTGGGGAGG	0.403000													5	67					0.014758	0.0150687	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46334667	46334667	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:46334667C>T	ENST00000510861.1	-	4	393	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	74					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACTGGTCACGTAGATGTTA	0.343000													37	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577212	92577212	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:92577212C>A	ENST00000298047.6	+	18	10696	c.10679C>A	c.(10678-10680)aCc>aAc	p.T3560N	FAT3_ENST00000409404.2_Missense_Mutation_p.T3560N|FAT3_ENST00000525166.1_Missense_Mutation_p.T3410N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3560	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCATTGTCACCATGGAGGAT	0.493000										TCGA Ovarian(4;0.039)			70	69					2.165e-29	2.50006e-29	1	1	0
DOK6	220164	broad.mit.edu	37	18	67231825	67231825	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:67231825C>A	ENST00000382713.5	+	2	359	c.169C>A	c.(169-171)Cat>Aat	p.H57N	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	57	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGAAACTTTCATAAGGTAAG	0.408000													20	44					2.37509e-13	2.67888e-13	1	1	0
FCGR3A	2214	broad.mit.edu	37	1	161518268	161518268	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:161518268T>C	ENST00000367969.3	-	3	553	c.370A>G	c.(370-372)Agg>Ggg	p.R124G	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R123G|FCGR3A_ENST00000436743.1_Missense_Mutation_p.R88G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R88G	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	88	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCTGGCACCTGTACTCTCCA	0.522000													13	248					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859707	46859707	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:46859707G>A	ENST00000262738.3	-	2	4079	c.4080C>T	c.(4078-4080)tgC>tgT	p.C1360C	CELSR1_ENST00000395964.1_Silent_p.C1360C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1360	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCCGTCTCGCAGTAGTCGC	0.706000													9	11					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64514211	64514211	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:64514211T>C	ENST00000164139.3	-	20	2847	c.2449A>G	c.(2449-2451)Acc>Gcc	p.T817A	PYGM_ENST00000377432.3_Missense_Mutation_p.T729A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	817					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGGGCAATGGTGCGGTCACTG	0.617000													24	44					0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56291574	56291574	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:56291574G>A	ENST00000381334.5	+	6	1163	c.930G>A	c.(928-930)gcG>gcA	p.A310A	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Silent_p.A115A|TMEM165_ENST00000542052.1_Silent_p.A247A	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	310						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTTTTTGGCGTTTGCATTTT	0.313000													32	85					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550898	8550898	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:8550898T>C	ENST00000348943.3	+	15	1701	c.1469T>C	c.(1468-1470)aTg>aCg	p.M490T	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M529T	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	529	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGCCTGAGCATGGAGCGCATG	0.687000													53	57					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57775607	57775607	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:57775607G>A	ENST00000379661.3	+	3	441	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	17	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGAAGAGATCGTCGCGCATGC	0.647000													4	58					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:59284456C>T	ENST00000502484.2	-	3	354	c.131G>A	c.(130-132)cGc>cAc	p.R44H	PDE4D_ENST00000546160.1_Missense_Mutation_p.R44H	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.R44P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTGAATATTGCGACATGAAAG	0.483000													4	123					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16890531	16890531	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:16890531G>A	ENST00000430580.2	-	29	4214	c.3327C>T	c.(3325-3327)atC>atT	p.I1109I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1089	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGCGAAGCTGATGTGCTGTT	0.458000													85	851					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873475	43873475	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr15:43873475G>T	ENST00000420765.1	-	9	1071	c.889C>A	c.(889-891)Ctg>Atg	p.L297M	PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L297M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L297M|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L297M	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	297					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						ATGGCAGTCAGCATGACTGGA	0.507000													5	209					0.014758	0.0150687	1	1	0
UCKL1	54963	broad.mit.edu	37	20	62577277	62577277	+	Missense_Mutation	SNP	C	C	T	rs138746686		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:62577277C>T	ENST00000369908.5	-	4	717	c.418G>A	c.(418-420)Gac>Aac	p.D140N	UCKL1_ENST00000369892.3_Missense_Mutation_p.D155N|UCKL1_ENST00000358711.3_Missense_Mutation_p.D155N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000354216.6_Missense_Mutation_p.D155N	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	155					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTGGGTGGTCGAAGTTGAAG	0.567000													64	119					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12088965	12088965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:12088965G>T	ENST00000343949.5	+	4	390	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000358987.3_Nonsense_Mutation_p.E76*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000591944.1_3'UTR	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGAAATTAAAGAAGACAGTCA	0.373000													60	131					8.3131e-28	9.48671e-28	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165827146	165827146	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:165827146G>A	ENST00000366882.1	-	14	1245	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T374M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T364M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	364	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATGTTCCGCGTGGTGTAGCC	0.478000													11	46					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572701	25572701	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:25572701C>T	ENST00000269141.3	-	9	1685	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CDH2_ENST00000399380.3_Missense_Mutation_p.R390K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	421	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R421T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCACTGATTCTGTACACTGC	0.517000													45	97					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50365330	50365330	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50365330C>T	ENST00000322344.3	-	13	1268	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	PNKP_ENST00000600573.1_Missense_Mutation_p.V356M|PNKP_ENST00000596014.1_Missense_Mutation_p.V387M|PNKP_ENST00000600910.1_Missense_Mutation_p.V387M	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	387					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCGGCCGACACGAGGTGCTTC	0.597000								Other BER factors					12	52					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			43	44					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319923	31319923	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:31319923T>G	ENST00000269197.5	+	11	2555	c.2555T>G	c.(2554-2556)aTt>aGt	p.I852S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGCTTCAATTCCAGAACTT	0.398000													12	44					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236230	81236230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:81236230G>A	ENST00000599697.1	-	6	1017	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	340					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTTGTCTCGCACGGTCACC	0.577000													26	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681342	100681342	+	Silent	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:100681342T>C	ENST00000306151.4	+	3	6709	c.6645T>C	c.(6643-6645)ccT>ccC	p.P2215P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2215	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTCCTAGTGAAGGAA	0.502000													26	651					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100732394	100732394	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100732394C>G	ENST00000360820.2	+	18	2671	c.2234C>G	c.(2233-2235)aCt>aGt	p.T745S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	745	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCTTCAAGTACTTTCACTTCT	0.388000													16	105					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473487	56473487	+	Silent	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:56473487T>C	ENST00000291971.3	+	4	2168	c.2097T>C	c.(2095-2097)ttT>ttC	p.F699F	NLRP8_ENST00000590542.1_Silent_p.F699F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	699						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTCTGTGTTTGCAACGAATG	0.512000													42	106					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774587	100774587	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100774587C>T	ENST00000323346.5	+	2	523	c.210C>T	c.(208-210)tgC>tgT	p.C70C	SLC17A8_ENST00000392989.3_Silent_p.C70C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	70					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCACTGCTGCGGCCTCCCCA	0.537000													4	127					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													3	4	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:108682418_108682419insT	ENST00000232603.5	-	27	2723_2724	c.2641_2642insA	c.(2641-2643)aaafs	p.K881fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287													7	155	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcfs	p.S143fs	FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													8	242	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102916153	102916153	+	RNA	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:102916153delA	ENST00000312132.4	-	0	705																											AGAAAGCCATAAAAAAGAAAA	0.229													2	4	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37440997	37440999	+	In_Frame_Del	DEL	AGA	AGA	-	rs41278303		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:37440997_37440999delAGA	ENST00000307750.4	-	2	1738_1740	c.1550_1552delTCT	c.(1549-1554)tcc>t	p.FS517del		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ATTACCCTGGAGAAGGAGGAGTG	0.547													12	26	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	3	---	---	---	---					
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)del	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739													2	4	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													6	7	---	---	---	---					
WHAMMP3	339005	broad.mit.edu	37	15	23208083	23208083	+	RNA	DEL	G	G	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr15:23208083delG	ENST00000400153.2	-	0	334					NR_003521.1																						GCCTCCCACCGGGTCCCAGGC	0.761													2	4	---	---	---	---					
BCKDHA	593	broad.mit.edu	37	19	41929045	41929045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:41929045delA	ENST00000269980.2	+	8	1506	c.1138delA	c.(1138-1140)agfs	p.K380fs	BCKDHA_ENST00000595085.1_Frame_Shift_Del_p.K414fs|BCKDHA_ENST00000457836.2_Frame_Shift_Del_p.K383fs|CTC-435M10.3_ENST00000540732.1_Frame_Shift_Del_p.K414fs	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	380					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGAGCAGGAGAAGGCCTGGAG	0.637													2	4	---	---	---	---