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
OBSCN	84033	broad.mit.edu	37	1	228528463	228528463	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:228528463C>T	ENST00000570156.2	+	83	20516	c.20442C>T	c.(20440-20442)tgC>tgT	p.C6814C	OBSCN_ENST00000284548.11_Silent_p.C5857C|OBSCN_ENST00000422127.1_Silent_p.C5857C|OBSCN_ENST00000366707.4_Silent_p.C3491C|OBSCN_ENST00000366709.4_Silent_p.C2976C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5857					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGAACTGCGCGCTGCTGG	0.637000													6	22					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31625971	31625971	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:31625971C>G	ENST00000379416.3	-	3	188	c.140G>C	c.(139-141)gGc>gCc	p.G47A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCCCCGCAGCCCCCCTCTCC	0.577000													23	136					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41943342	41943342	+	Nonsense_Mutation	SNP	C	C	T	rs77958839		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:41943342C>T	ENST00000379406.3	+	15	2194	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	624					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						acagaaaaatcaaaagaaaaa	0.353000													27	13					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120597670	120597670	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:120597670G>A	ENST00000300648.6	-	24	2720	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	903					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCCAAGGACAAGAAGGG	0.587000													31	92					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877714	106877714	+	RNA	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:106877714G>A	ENST00000390619.2	-	0	329																											ATGGTGACTCGACTCTTGAGG	0.567000													44	90					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46862498	46862498	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:46862498C>T	ENST00000393382.3	-	13	1968	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	TTLL6_ENST00000433608.2_Silent_p.R302R	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	561						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTCATTTTTCCTTTCACCTC	0.517000													26	81					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000019	14000019	+	Silent	SNP	G	G	A	rs141570550	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:14000019G>A	ENST00000454313.1	-	6	1708	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.F550F|C19orf57_ENST00000346736.2_Silent_p.F550F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	550					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGGGCTTCGAAGTCAGAGG	0.607000													10	42					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051635	96051635	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.S1145S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1570					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAG	0.701000													5	37					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382819	31382819	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:31382819T>C	ENST00000355683.5	-	8	1248	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000357479.5_Missense_Mutation_p.M429V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	341					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCAGAACCCATAATAAATGAC	0.383000													33	146					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526679	23526679	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:23526679G>T	ENST00000296682.3	+	11	1664	c.1482G>T	c.(1480-1482)atG>atT	p.M494I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	494					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAATAATGGAAGAAGAGT	0.443000										HNSCC(3;0.000094)			26	61					3.28513e-13	3.41006e-13	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133673812	133673812	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:133673812C>T	ENST00000519595.1	-	2	170	c.72G>A	c.(70-72)gaG>gaA	p.E24E	LRRC6_ENST00000250173.1_Silent_p.E24E|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.E24E			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	24						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACGAGAGTTCCTCCAGGGAAA	0.368000													8	35					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86794313	86794313	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:86794313T>G	ENST00000394703.5	+	5	619	c.56T>G	c.(55-57)gTg>gGg	p.V19G	DMTF1_ENST00000413276.2_Missense_Mutation_p.V19G|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.V19G|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.V19G|DMTF1_ENST00000394702.3_Missense_Mutation_p.V19G	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	19	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTGAACTCTGTGACTTTGACT	0.398000													10	28					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512427	167512427	+	Silent	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:167512427C>G	ENST00000295777.5	+	5	1127	c.696C>G	c.(694-696)tcC>tcG	p.S232S	SERPINI1_ENST00000446050.2_Silent_p.S232S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	232					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GTGATGGCTCCAATGAAGCTG	0.403000													11	45					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490771	65490771	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:65490771C>T	ENST00000261883.4	-	9	2019	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	618					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTTCACTTTTCCTATGTAGGG	0.527000													39	100					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75095266	75095266	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:75095266T>G	ENST00000401621.2	-	8	929	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TTC18_ENST00000394865.1_Missense_Mutation_p.N270T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.N270T			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	270							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTGCTTGATTCCTAAATTC	0.403000													12	14					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872999	55872999	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:55872999G>A	ENST00000313503.1	+	1	481	c.481G>A	c.(481-483)Gtt>Att	p.V161I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTCAACGTGGTTTCCATGAG	0.428000										HNSCC(53;0.14)			43	139					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797211	42797211	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:42797211C>T	ENST00000572681.2	+	16	6362	c.6294C>T	c.(6292-6294)tcC>tcT	p.S2098S	CIC_ENST00000160740.3_Silent_p.S1189S|CIC_ENST00000575354.2_Silent_p.S1191S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGGGGTCCTTTGAGGCAG	0.677000			"""Mis, F, S"""		oligodendroglioma								23	23					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37882009	37882009	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:37882009G>A	ENST00000406381.2	+	25	3195	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	ERBB2_ENST00000541774.1_Silent_p.G910G|ERBB2_ENST00000540147.1_Silent_p.G895G|ERBB2_ENST00000269571.5_Silent_p.G925G|ERBB2_ENST00000445658.2_Silent_p.G649G|ERBB2_ENST00000584450.1_Silent_p.G925G|ERBB2_ENST00000584601.1_Silent_p.G895G	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	925	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTTACGATGGGATCCCAGCCC	0.577000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			29	28					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152823641	152823641	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:152823641C>T	ENST00000370186.1	+	15	2789	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	ATP2B3_ENST00000359149.3_Silent_p.I835I|ATP2B3_ENST00000349466.2_Silent_p.I835I|ATP2B3_ENST00000263519.4_Silent_p.I835I|ATP2B3_ENST00000393842.1_Silent_p.I821I|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.I821I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	835					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCAGCATCGTCAAGGCAG	0.572000													108	35					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498876	9498876	+	Splice_Site	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:9498876G>A	ENST00000246070.2	+	5	1156		c.e5+1		LAMP5_ENST00000427562.2_Splice_Site	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5							integral to membrane											TTCAGTGAAGGTAAGTTGTTG	0.493000													20	14					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178411872	178411872	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:178411872C>T	ENST00000448150.3	+	8	1754	c.936C>T	c.(934-936)gcC>gcT	p.A312A	RASAL2_ENST00000462775.1_Silent_p.A182A|RASAL2_ENST00000367649.3_Silent_p.A330A	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	182					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGACCTTGCCCCTAAAAAGA	0.428000													52	66					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27325020	27325020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:27325020G>A	ENST00000402394.1	-	5	555	c.287C>T	c.(286-288)tCc>tTc	p.S96F	CGREF1_ENST00000404694.3_Missense_Mutation_p.S218F|CGREF1_ENST00000312734.4_Missense_Mutation_p.S96F|CGREF1_ENST00000402550.1_Missense_Mutation_p.S96F|CGREF1_ENST00000452318.2_5'UTR|CGREF1_ENST00000260595.5_Missense_Mutation_p.S96F|CGREF1_ENST00000405600.1_Missense_Mutation_p.S96F	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	96	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCAACATGGACAGCAGCTC	0.552000													13	48					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834291	94834291	+	Splice_Site	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:94834291T>C	ENST00000371531.1	+	2	585		c.e2+2		CYP26A1_ENST00000394139.1_Splice_Site|CYP26A1_ENST00000224356.4_Splice_Site	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1						negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCAAGAAGGTGGGGGCAGGA	0.647000													75	176					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047244	67047244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:67047244C>T	ENST00000315962.4	+	3	734	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	TRIM55_ENST00000350034.4_Nonsense_Mutation_p.Q121*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.Q121*|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.Q121*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	121						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAAATCCGACCAGCCCATGTG	0.522000													28	34					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502657	118502657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118502657C>T	ENST00000361417.2	+	9	2539	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.Q710*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	710										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CACCAAGCTCCAGGGAGAGGT	0.567000													4	126					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77762249	77762249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:77762249G>A	ENST00000354212.4	-	18	3413	c.3160C>T	c.(3160-3162)Cca>Tca	p.P1054S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P1040S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1054S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1054	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGTGGTGCTGGCTGGGCGATG	0.582000													103	475					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20295164	20295164	+	Splice_Site	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:20295164G>A	ENST00000335117.8	+	2	87		c.e2-1		ZNF486_ENST00000597083.1_Splice_Site|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GTGTTTTTCAGGAATCATTGC	0.393000													63	262					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848942	54848942	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:54848942C>T	ENST00000291759.4	-	5	737	c.681G>A	c.(679-681)ctG>ctA	p.L227L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	227	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGCAGGGTCAGGAGGGAGG	0.617000													18	41					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079682	31079682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:31079682G>A	ENST00000259870.3	-	2	457	c.454C>T	c.(454-456)Cct>Tct	p.P152S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	152										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GACTCCCCAGGCAAAGGGCCA	0.642000													23	64					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272081	233272081	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:233272081G>A	ENST00000295453.3	+	3	322	c.270G>A	c.(268-270)atG>atA	p.M90I		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	90					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCCTGGCCATGGACCGCTTCC	0.572000													12	65					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27904665	27904665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:27904665G>A	ENST00000225394.3	-	10	1227	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	GIT1_ENST00000394869.3_Nonsense_Mutation_p.Q336*|GIT1_ENST00000581348.1_Nonsense_Mutation_p.Q336*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Nonsense_Mutation_p.Q327*	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	327	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCCCTCACCTGATTCCGCGTG	0.632000													76	67					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797210	42797210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:42797210C>T	ENST00000572681.2	+	16	6361	c.6293C>T	c.(6292-6294)tCc>tTc	p.S2098F	CIC_ENST00000160740.3_Missense_Mutation_p.S1189F|CIC_ENST00000575354.2_Missense_Mutation_p.S1191F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCGTGGGGTCCTTTGAGGCA	0.677000			"""Mis, F, S"""		oligodendroglioma								24	23					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052314	55052314	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:55052314G>A	ENST00000330807.5	-	2	257	c.120C>T	c.(118-120)atC>atT	p.I40I	ALAS2_ENST00000396198.3_Silent_p.I64I|ALAS2_ENST00000335854.4_Silent_p.I40I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	40					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGTAGCCAGGATGGGACAGC	0.542000													13	32					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247210	10247210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:10247210C>T	ENST00000418404.3	-	15	1964	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	MYH13_ENST00000570743.1_Missense_Mutation_p.D601N|MYH13_ENST00000252172.4_Missense_Mutation_p.D601N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	601	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCAGGGGGTCCTTGTTTTTG	0.552000													38	34					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735407	164735407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:164735407G>A	ENST00000264382.3	-	31	3750	c.3688C>T	c.(3688-3690)Cgt>Tgt	p.R1230C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1230	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATCCATAACGACATAATTGG	0.353000										HNSCC(35;0.089)			24	45					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39543653	39543653	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:39543653G>A	ENST00000537403.1	-	5	1665	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	SEC23A_ENST00000545328.2_Missense_Mutation_p.L328F|SEC23A_ENST00000536508.1_Missense_Mutation_p.L231F|SEC23A_ENST00000307712.6_Missense_Mutation_p.L357F			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	357					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATCTCCAGGAGACCTGTCTGA	0.348000													37	162					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551136	248551136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:248551136C>T	ENST00000355728.2	+	1	227	c.227C>T	c.(226-228)aCc>aTc	p.T76I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACATCTCCACCATTGTGCCC	0.507000													67	44					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307321	14307321	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:14307321G>A	ENST00000380959.3	-	2	702	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	NFIB_ENST00000380921.3_Missense_Mutation_p.L77F|NFIB_ENST00000380953.1_Missense_Mutation_p.L77F|NFIB_ENST00000397581.2_Missense_Mutation_p.L77F|NFIB_ENST00000380934.4_Missense_Mutation_p.L103F|NFIB_ENST00000397579.2_Missense_Mutation_p.L77F|NFIB_ENST00000397575.3_Missense_Mutation_p.L77F	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	77					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTTGGCAAGGAGCCTGGAT	0.483000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								18	92					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:4615507C>T	ENST00000450052.2	+	2	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000													27	71					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505554	157505554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:157505554C>T	ENST00000346085.5	+	13	3536	c.3535C>T	c.(3535-3537)Cag>Tag	p.Q1179*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1219*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1166*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1161*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCAAGCTCCAGCCGCCATC	0.617000													16	39					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085475	167085475	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:167085475A>C	ENST00000375387.4	-	22	4275	c.3935T>G	c.(3934-3936)gTg>gGg	p.V1312G	SCN9A_ENST00000409672.1_Missense_Mutation_p.V1300G|SCN9A_ENST00000409435.1_Missense_Mutation_p.V1311G|SCN9A_ENST00000303354.6_Missense_Mutation_p.V1312G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1311						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGTGCATTCACAACGACCTA	0.348000													22	66					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910508	184910508	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:184910508G>T	ENST00000231887.3	-	7	1753	c.1678C>A	c.(1678-1680)Cca>Aca	p.P560T	EHHADH_ENST00000456310.1_Missense_Mutation_p.P464T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	560	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCAGGAATTGGGCAGTACCTC	0.478000													34	63					1.22384e-17	1.29059e-17	1	1	0
TJP1	7082	broad.mit.edu	37	15	30008956	30008956	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:30008956T>C	ENST00000346128.6	-	23	4535	c.4061A>G	c.(4060-4062)tAt>tGt	p.Y1354C	TJP1_ENST00000400011.2_Missense_Mutation_p.Y1278C|TJP1_ENST00000545208.2_Missense_Mutation_p.Y1274C|TJP1_ENST00000356107.6_Missense_Mutation_p.Y1354C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1354					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTTCGATAATATTCTTCATC	0.448000													25	28					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47879795	47879795	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:47879795C>T	ENST00000328771.4	+	12	2926	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	859						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCTGGAGGCCAGCAACTGCG	0.672000													4	4					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56531747	56531747	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:56531747C>T	ENST00000390649.3	+	6	629	c.629C>T	c.(628-630)tCa>tTa	p.S210L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	210						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCAGAAATTTCACAAGCTATG	0.408000													25	25					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417988	150417988	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:150417988C>T	ENST00000307194.5	+	3	1036	c.896C>T	c.(895-897)gCc>gTc	p.A299V		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTCGGAGGCCGTTGCGGAG	0.617000													21	25					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127429458	127429458	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:127429458C>T	ENST00000434178.2	-	6	1427	c.531G>A	c.(529-531)ggG>ggA	p.G177G	MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000265052.5_Silent_p.G187G|MGLL_ENST00000398104.1_Silent_p.G177G|MGLL_ENST00000398101.3_Silent_p.G151G			Q99685	MGLL_HUMAN	monoglyceride lipase	177					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AGTCGATGGGCCCGAGGGACA	0.592000													3	6					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062598	73062598	+	RNA	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:73062598G>A	ENST00000429829.1	-	0	9990					NR_001564.2																						CAAGAGAAAGGGCCTTGTCTG	0.468000													20	9					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:169511239C>T	ENST00000367796.3	-	13	3305	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	F5_ENST00000367797.3_Missense_Mutation_p.R1030Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000													52	302					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277662	140277662	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:140277662C>T	ENST00000458420.3	+	12	2194	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	668					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGCACCTTCGCCAAAACCG	0.532000										HNSCC(16;0.037)			18	68					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202984110	202984110	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:202984110C>T	ENST00000367242.3	+	4	541	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GTGAATTTTTCCCTGATTTGT	0.488000													8	35					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582271	128582271	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:128582271C>T	ENST00000402030.2	+	2	208	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	IRF5_ENST00000477535.1_Missense_Mutation_p.P46S|IRF5_ENST00000473745.1_Missense_Mutation_p.P46S|IRF5_ENST00000249375.4_Missense_Mutation_p.P46S|IRF5_ENST00000357234.5_Missense_Mutation_p.P46S	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	46					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ATTCTGCATCCCCTGGAGGCA	0.617000													66	83					0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80877487	80877487	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:80877487G>A	ENST00000545529.1	+	4	464	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	BCKDHB_ENST00000369760.4_Missense_Mutation_p.E146K|BCKDHB_ENST00000356489.5_Missense_Mutation_p.E146K|BCKDHB_ENST00000320393.6_Missense_Mutation_p.E146K			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	146					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGCCATTGCGGAAATTCAGTT	0.363000													20	13					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33147552	33147552	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:33147552C>G	ENST00000341947.2	-	13	1617	c.1390G>C	c.(1390-1392)Ggc>Cgc	p.G464R	COL11A2_ENST00000374708.4_Missense_Mutation_p.G378R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G417R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G357R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G383R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G404R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G438R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G443R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	464	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCACAGGGCCCTTGTCACCC	0.642000													12	93					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690928	99690928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:99690928C>T	ENST00000303887.5	-	14	2590	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	MCM7_ENST00000354230.3_Missense_Mutation_p.G473R|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	649	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTGTCTGCCCCTTGTCTCCT	0.483000													36	224					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549961	71549961	+	Splice_Site	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:71549961G>A	ENST00000265382.3	+	13	1662	c.1357_splice	c.e13+1	p.A453_splice	PIP5K1B_ENST00000541509.1_Splice_Site_p.A453_splice	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	453						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGATGAAGAAGGTAAAGATAT	0.343000													23	76					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141310678	141310678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:141310678C>T	ENST00000389328.4	-	11	1966	c.1952G>A	c.(1951-1953)cGg>cAg	p.R651Q	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R553Q|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R544Q	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	553					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.R651Q(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTGTGTGGCCGGAGGCTAGC	0.438000													28	96					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387045	150387045	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:150387045G>A	ENST00000367339.1	-	2	370	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ULBP3_ENST00000438272.2_Silent_p.F114F			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	114	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CACTGGGTGTGAAATCCTCCA	0.542000													24	75					0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171572790	171572790	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:171572790C>A	ENST00000375281.3	+	2	235	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	SP5_ENST00000487037.1_3'UTR	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CAGCGCCTCCCCGGACCTGGG	0.741000													14	86					0.00316338	0.00319089	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111432904	111432904	+	Silent	SNP	G	G	A	rs61755448		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111432904G>A	ENST00000393934.3	+	3	1365	c.795G>A	c.(793-795)gcG>gcA	p.A265A	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Silent_p.A265A	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	265					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTCCCAAGCGATCCTCACCC	0.572000													51	60					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520188	23520188	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:23520188G>A	ENST00000374619.1	-	1	1034	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HTR1D_ENST00000314113.3_Silent_p.F175F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	175					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCCGCCAGAAGAGCGGGG	0.592000													19	60					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917423	48917423	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:48917423C>T	ENST00000311378.4	+	2	1302	c.774C>T	c.(772-774)aaC>aaT	p.N258N	WFIKKN2_ENST00000426127.1_Silent_p.N165N|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	258	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCGGCCCAACCATGTGCGTG	0.607000													21	67					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728717	122728717	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:122728717C>T	ENST00000512454.1	+	5	713	c.497C>T	c.(496-498)cCt>cTt	p.P166L	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.P182L|EXOSC9_ENST00000243498.5_Missense_Mutation_p.P182L			Q06265	EXOS9_HUMAN	exosome component 9	182	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAGCGTGATCCTGTACCATTA	0.363000													37	45					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374051	140374051	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552000													23	98					0	0	1	0	0
MAGOHB	55110	broad.mit.edu	37	12	10766047	10766047	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:10766047G>A	ENST00000320756.2	-	1	175	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	MAGOHB_ENST00000381881.2_Missense_Mutation_p.R29W|MAGOHB_ENST00000539554.1_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	29					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CCGTCCGGCCGAAATTCGAAC	0.617000													34	110					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175678	140175678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140175678C>T	ENST00000526136.1	+	1	1129	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R377C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R377C|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCGGATCGCGACTCTGG	0.522000													41	85					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50290580	50290580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:50290580G>A	ENST00000313601.6	+	4	812	c.428G>A	c.(427-429)cGc>cAc	p.R143H	GNAI2_ENST00000266027.5_Missense_Mutation_p.R127H|GNAI2_ENST00000440628.1_Missense_Mutation_p.R91H|GNAI2_ENST00000536647.1_Missense_Mutation_p.R62H|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.R127H|GNAI2_ENST00000451956.1_Missense_Mutation_p.R106H	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	143					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R143H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGCTTTGGCCGCTCAAGGGAA	0.657000													5	342					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265137	139265137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:139265137G>A	ENST00000450536.2	-	6	1343	c.769C>T	c.(769-771)Cga>Tga	p.R257*	REPS1_ENST00000367663.4_Nonsense_Mutation_p.R257*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R257*|REPS1_ENST00000258062.5_Nonsense_Mutation_p.R257*|REPS1_ENST00000415951.2_Nonsense_Mutation_p.R257*			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	257						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTACAGTTCGTACTGTTGTC	0.358000													23	18					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749147	153749147	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:153749147C>T	ENST00000271857.2	+	2	1965	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.S321F			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	321					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGATACCTCTCTTCCCCCCAG	0.597000													37	72					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922110	43922110	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:43922110C>A	ENST00000602198.1	+	7	968	c.526C>A	c.(526-528)Ccc>Acc	p.P176T	TEX101_ENST00000598265.1_Missense_Mutation_p.P158T|TEX101_ENST00000253435.7_Missense_Mutation_p.P176T|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	158						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTTCCCTGTCCCAATGGTAC	0.463000													35	149					6.53348e-20	6.95306e-20	1	1	0
ANTXR2	118429	broad.mit.edu	37	4	80990644	80990644	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:80990644G>A	ENST00000403729.2	-	3	767	c.242C>T	c.(241-243)tCt>tTt	p.S81F	ANTXR2_ENST00000404191.1_Missense_Mutation_p.S4F|ANTXR2_ENST00000307333.7_Missense_Mutation_p.S81F|ANTXR2_ENST00000346652.6_Missense_Mutation_p.S81F|ANTXR2_ENST00000295465.4_Missense_Mutation_p.S81F	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	81	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAATGAAAGATAATCTCAT	0.323000									Juvenile Hyaline Fibromatosis				4	11					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421183	8421183	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:8421183A>G	ENST00000337907.3	-	19	3018	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	RERE_ENST00000476556.1_Missense_Mutation_p.V241A|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.V795A|RERE_ENST00000377464.1_Missense_Mutation_p.V527A	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	795	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTGTGGGGAACAGGCGCTGT	0.731000													2	2					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813813	100813813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:100813813G>A	ENST00000323346.5	+	12	1959	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.G499E	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	549					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						ATGTCTTATGGAGCCACCTCC	0.463000													17	30					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69104733	69104733	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:69104733T>C	ENST00000288368.4	+	37	4854	c.4577T>C	c.(4576-4578)aTc>aCc	p.I1526T		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1526					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCTGCCACATCATCATGTGC	0.522000													8	37					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5990146	5990146	+	Silent	SNP	C	C	T	rs142834094	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:5990146C>T	ENST00000531445.1	-	1	1399	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	C4orf50_ENST00000324058.5_5'UTR			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	0										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCTCCTCTTTCTCCAAATGTG	0.537000													10	9					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23392335	23392335	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23392335G>A	ENST00000324366.8	-	13	1633	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	PRMT5_ENST00000216350.8_Silent_p.S409S|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Silent_p.S426S|PRMT5_ENST00000397440.4_Silent_p.S299S|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000538452.1_Silent_p.S364S|PRMT5_ENST00000397441.2_Silent_p.S453S|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000457443.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	470					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGCCAGAAAGGAAGTGTACT	0.517000													6	22					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263073	1263073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:1263073G>A	ENST00000447027.1	+	31	5030	c.4972G>A	c.(4972-4974)Gaa>Aaa	p.E1658K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E1655K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1655	7 X Cys-rich subdomain repeats.|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)		CACCCTCTCAGAAGGACTGAC	0.667000													6	19					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738549	18738549	+	Splice_Site	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:18738549T>C	ENST00000513874.1	-	10	1113		c.e10-2		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGGCTCATCTGCAGCAAACA	0.562000													20	44					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185339635	185339635	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:185339635T>G	ENST00000296257.5	+	14	1708	c.1468T>G	c.(1468-1470)Tgt>Ggt	p.C490G	SENP2_ENST00000545472.1_Missense_Mutation_p.C480G|SENP2_ENST00000427465.2_Missense_Mutation_p.C314G	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	490	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGAAAAAAGTGTCTTAAATA	0.363000													8	36					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346683	48346683	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:48346683T>C	ENST00000319856.4	+	1	212	c.191T>C	c.(190-192)gTt>gCt	p.V64A		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGGTCACGGTTTGTGGCAAC	0.463000													5	79					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380991	147380991	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:147380991G>A	ENST00000240986.4	+	2	962	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GJA8_ENST00000369235.1_Silent_p.K303K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	303					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCGAGGAGAAGATCAGCACAG	0.587000													23	29					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446863	197446863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:197446863C>T	ENST00000367400.3	+	12	4210	c.4075C>T	c.(4075-4077)Ctc>Ttc	p.L1359F	CRB1_ENST00000544212.1_Missense_Mutation_p.L840F|CRB1_ENST00000535699.1_Missense_Mutation_p.L1335F|CRB1_ENST00000367399.2_Missense_Mutation_p.L1247F|CRB1_ENST00000538660.1_Missense_Mutation_p.L823F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1359					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTTACTGATCCTCTTGCTGGC	0.507000													59	32					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233633146	233633146	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:233633146C>T	ENST00000233826.3	-	3	977	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	KCNJ13_ENST00000410029.1_Missense_Mutation_p.E280K|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	280						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGGCATATTTCTCCAGTGCCC	0.433000													38	155					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96011259	96011259	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:96011259C>A	ENST00000395813.1	+	2	278	c.92C>A	c.(91-93)aCc>aAc	p.T31N	CAST_ENST00000338252.3_5'UTR|CAST_ENST00000508608.1_Missense_Mutation_p.T16N|CAST_ENST00000510756.1_Missense_Mutation_p.T31N|CAST_ENST00000325674.7_Missense_Mutation_p.T31N|CAST_ENST00000395812.2_Missense_Mutation_p.T31N|CAST_ENST00000359176.4_Missense_Mutation_p.T31N|CAST_ENST00000508830.1_Missense_Mutation_p.T31N			P20810	ICAL_HUMAN	calpastatin	96							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AGTGAAAAAACCAGTGAATCG	0.348000													14	49					3.41278e-10	3.50339e-10	1	1	0
GMFG	9535	broad.mit.edu	37	19	39819581	39819581	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:39819581C>T	ENST00000598034.1	-	6	445	c.416G>A	c.(415-417)tGa>tAa	p.*139*	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000597595.1_Intron|GMFG_ENST00000253054.8_Intron			O60234	GMFG_HUMAN	glia maturation factor, gamma	0	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTCTTCCCTCAGACCCAGGA	0.512000													22	38					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33147551	33147551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:33147551C>T	ENST00000341947.2	-	13	1618	c.1391G>A	c.(1390-1392)gGc>gAc	p.G464D	COL11A2_ENST00000374708.4_Missense_Mutation_p.G378D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G417D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G357D|COL11A2_ENST00000374712.1_Missense_Mutation_p.G383D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G404D|COL11A2_ENST00000374714.1_Missense_Mutation_p.G438D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G443D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	464	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCACAGGGCCCTTGTCACC	0.647000													11	94					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091674	16091674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:16091674C>T	ENST00000375766.3	+	3	836	c.196C>T	c.(196-198)Cct>Tct	p.P66S	FBLIM1_ENST00000375771.1_Missense_Mutation_p.P66S|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P66S|FBLIM1_ENST00000400773.1_Missense_Mutation_p.P66S|FBLIM1_ENST00000332305.5_Missense_Mutation_p.P66S	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	66	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTGGACAACCCCTGGCAGAGC	0.667000													14	48					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772216	118772216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118772216G>A	ENST00000334801.3	-	6	3200	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	746	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGAGGCCCCGGCCTCCACCA	0.637000													36	91					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101953919	101953919	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:101953919G>C	ENST00000434758.2	+	7	821	c.793G>C	c.(793-795)Gac>Cac	p.D265H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	265										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TGGTGTGGGAGACATGTCTTA	0.313000													26	70					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394877	86394877	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:86394877C>A	ENST00000361669.2	+	2	1515	c.416C>A	c.(415-417)cCa>cAa	p.P139Q	GRM3_ENST00000439827.1_Missense_Mutation_p.P139Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.P137Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	139					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAAAACATCCCACTTCTCATT	0.423000													20	102					3.99206e-14	4.1625e-14	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89413823	89413823	+	RNA	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:89413823G>A	ENST00000532352.1	+	0	1308							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTACAGCTTGGTATACAACC	0.279000													9	29					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661859	139661859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:139661859C>T	ENST00000263552.6	+	13	1502	c.964C>T	c.(964-966)Cct>Tct	p.P322S	TBXAS1_ENST00000411653.1_Missense_Mutation_p.P321S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P367S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P321S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P322S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P322S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P254S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P321S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P368S	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	321					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCAGCCCAGCCCTATGGCCAG	0.537000													49	39					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	836823	836823	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:836823G>A	ENST00000397420.3	+	5	580	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	CD151_ENST00000397421.1_Missense_Mutation_p.A111T|CD151_ENST00000528011.1_Missense_Mutation_p.A111T|CD151_ENST00000322008.4_Missense_Mutation_p.A111T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	111					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTATCCTCGCCTACGCCTA	0.602000													13	25					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79767502	79767502	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:79767502C>G	ENST00000372371.3	-	15	2169	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	678					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GACATGGCATCTGCAGCTTCA	0.468000													17	51					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872415	35872415	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:35872415A>C	ENST00000216797.5	-	3	589	c.488T>G	c.(487-489)cTg>cGg	p.L163R	NFKBIA_ENST00000557389.1_Missense_Mutation_p.L73R|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.L163R	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	163					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGACTGAGTCAGGACTCCCAC	0.627000													32	124					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804576	22804576	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr21:22804576A>C	ENST00000400546.1	+	12	1878	c.1629A>C	c.(1627-1629)aaA>aaC	p.K543N	NCAM2_ENST00000284894.7_Missense_Mutation_p.K401N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	543	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATCTGGAAAATTGTACGCT	0.428000													6	31					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549160	119549160	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:119549160C>T	ENST00000264025.3	-	2	925	c.395G>A	c.(394-396)gGc>gAc	p.G132D	PVRL1_ENST00000340882.2_Missense_Mutation_p.G132D|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.G132D	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	132	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TTCTCGATTGCCCGTAGGGAA	0.617000													29	71					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087712	175087712	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:175087712A>C	ENST00000239462.4	+	11	2515	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	801	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACAGCCCCCAAAACCTGGTC	0.517000													27	121					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105147410	105147410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:105147410G>A	ENST00000369839.3	+	10	2163	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I	TAF5_ENST00000351396.4_Missense_Mutation_p.V659I	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	714					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACTGATACAGTCTGTTCACT	0.403000													91	71					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196675080	196675080	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:196675080A>C	ENST00000412723.1	-	3	834	c.688T>G	c.(688-690)Ttt>Gtt	p.F230V	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	230					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AAGGCCAGAAAGGTGGGCCGG	0.652000													18	126					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260384	68260384	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:68260384G>A	ENST00000347230.4	-	14	2632	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P832S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	832					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACTCAGGTGGGGAGAACATC	0.557000													21	44					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48146655	48146655	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:48146655C>T	ENST00000418331.2	+	6	1362	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P337L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	337	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTTAGAGCCTGGCACCCGA	0.582000													32	99					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898453	111898453	+	Silent	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111898453T>C	ENST00000305815.5	-	23	3096	c.2844A>G	c.(2842-2844)ggA>ggG	p.G948G	SLC9C1_ENST00000487372.1_Silent_p.G900G	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	948					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTATTATTTCTCCACTGAGCA	0.383000													11	81					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41408878	41408878	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:41408878C>A	ENST00000373198.3	-	4	783	c.548G>T	c.(547-549)cGg>cTg	p.R183L	PTPRT_ENST00000373201.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R183L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R183L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R183L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	183	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCAAGGACCCGGACCTCGTC	0.522000													23	148					2.48779e-11	2.56519e-11	1	1	0
MUC15	143662	broad.mit.edu	37	11	26584708	26584708	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:26584708C>T	ENST00000436318.2	-	3	1013	c.880G>A	c.(880-882)Gat>Aat	p.D294N	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.D294N|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.D267N|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	267						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GAAAATGAATCCGTTTTCCTT	0.398000													29	76					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12825642	12825642	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:12825642G>A	ENST00000425528.1	-	10	1240	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	TNPO2_ENST00000592287.1_Silent_p.L295L|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Silent_p.L295L|TNPO2_ENST00000441499.1_Silent_p.L295L|TNPO2_ENST00000588216.1_Silent_p.L295L|TNPO2_ENST00000356861.5_Silent_p.L295L			O14787	TNPO2_HUMAN	transportin 2	295					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTGGACCAGATGGGAGGCC	0.607000													11	100					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53232906	53232906	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:53232906G>A	ENST00000359499.4	-	9	1235	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	KRT78_ENST00000304620.4_Silent_p.I518I			Q8N1N4	K2C78_HUMAN	keratin 78	518	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCAGTAGGTGATGGATGTCT	0.592000													30	49					0	0	1	0	0
NMU	10874	broad.mit.edu	37	4	56482528	56482528	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:56482528G>A	ENST00000264218.3	-	3	301	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	NMU_ENST00000507338.1_Silent_p.L66L|NMU_ENST00000505262.1_Silent_p.L66L|NMU_ENST00000511469.1_Intron|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	66					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TCAATGGACAGAAAAGACGAA	0.348000													11	44					0	0	1	0	0
TRAC	28755	broad.mit.edu	37	14	23016520	23016520	+	RNA	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23016520C>G	ENST00000478163.3	+	0	74																											TCTGCCTATTCACCGATTTTG	0.443000													44	143					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16962020	16962020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:16962020G>A	ENST00000377833.4	-	44	6828	c.6763C>T	c.(6763-6765)Ccg>Tcg	p.P2255S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2255	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGTTTCCGGTGGAGCCGCT	0.458000													54	15					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557689	210557689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:210557689G>A	ENST00000360351.4	+	7	1301	c.795G>A	c.(793-795)tgG>tgA	p.W265*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.W261*|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	265					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)	AAAAGGACTGGTTCATCGAAA	0.478000													21	70					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654675	31654675	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr21:31654675A>C	ENST00000340345.4	-	1	601	c.576T>G	c.(574-576)tgT>tgG	p.C192W		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	192						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGAAATATAACATAATGGTG	0.418000													22	66					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879935	39879935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:39879935C>T	ENST00000530275.1	+	1	3785	c.3590C>T	c.(3589-3591)tCc>tTc	p.S1197F	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1197										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGAAGTTTCCCCCATTGGT	0.592000													13	32					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152671	49152671	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:49152671G>A	ENST00000453664.1	-	13	2294	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	USP19_ENST00000398898.2_Missense_Mutation_p.S608F|USP19_ENST00000434032.2_Missense_Mutation_p.S669F|USP19_ENST00000417901.1_Missense_Mutation_p.S671F|USP19_ENST00000398888.2_Missense_Mutation_p.S568F|USP19_ENST00000398892.3_Missense_Mutation_p.S608F|USP19_ENST00000398896.1_Missense_Mutation_p.S376F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	568					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCAACTTGGAAGGCTGGAA	0.617000													7	42					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156907218	156907218	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156907218C>T	ENST00000368194.3	-	39	5302	c.4263G>A	c.(4261-4263)atG>atA	p.M1421I	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M1381I|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M797I|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1381					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGGGGCTCATGGGTGCCT	0.612000													89	71					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225451	153225451	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:153225451G>T	ENST00000310441.7	-	8	2212	c.1246C>A	c.(1246-1248)Ccg>Acg	p.P416T	HCFC1_ENST00000369984.4_Missense_Mutation_p.P416T|HCFC1_ENST00000354233.3_Intron	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGGACCGGATTGGGTGTA	0.637000													72	34					5.72124e-26	6.10266e-26	1	1	0
LYST	1130	broad.mit.edu	37	1	235866078	235866078	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:235866078G>A	ENST00000389794.3	-	45	10517	c.10343C>T	c.(10342-10344)aCc>aTc	p.T3448I	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.T3448I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3448					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGTTCTCGGGTCTCCCTGAA	0.498000													114	58					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238098	126238098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:126238098C>T	ENST00000394329.3	+	1	545	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGCATCATCCGCGGCAATGA	0.632000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	51					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006193	22006193	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:22006193C>T	ENST00000276925.6	-	2	619	c.210G>A	c.(208-210)gcG>gcA	p.A70A	CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584816.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	70					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		AGTTGGGCTCCGCGCCGTGGA	0.697000													10	38					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161144929	161144929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:161144929G>A	ENST00000319769.5	-	4	565	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R115C|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	115					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CCTGCAGGGCGGTACCGGCCC	0.637000													125	107					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149245639	149245639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:149245639C>T	ENST00000465804.1	-	6	1145	c.889G>A	c.(889-891)Gat>Aat	p.D297N	WWTR1_ENST00000467467.1_Missense_Mutation_p.D297N|WWTR1_ENST00000360632.3_Missense_Mutation_p.D297N	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	297					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGAAAGGATCTGAGCTATTA	0.428000			T	CAMTA1	epitheliod hemangioendothelioma								59	368					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240048223	240048223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:240048223G>A	ENST00000345617.3	-	12	2238	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q67*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q457*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	483					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		tgctgctgctgGATGACCAGG	0.647000													12	13					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:17046559C>T	ENST00000492551.1	-	0	93					NR_026567.1																						GCGGTGGGATCCCCACCGCCA	0.607000													17	129					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22293950	22293950	+	RNA	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:22293950G>A	ENST00000390432.2	+	0	90																											TCTGAATAGGGGGGAATGGCA	0.443000													27	30					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	6					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61468711	61468711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:61468711G>A	ENST00000398571.2	-	53	6837	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAACTCTGACGAAACATCAAA	0.328000													18	11					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3542860	3542860	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:3542860G>A	ENST00000398558.4	-	10	1535	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCAGGCCAGGGGGGCTTCCC	0.632000													7	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179581978	179581978	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179581978C>T	ENST00000589042.1	-	88	25707	c.25483G>A	c.(25483-25485)Gag>Aag	p.E8495K	TTN_ENST00000342992.6_Missense_Mutation_p.E7251K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8178K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8178	Ig-like 67.						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)			GGGCGAATCTCTCGGTTATCT	0.463000													25	40					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695896	64695896	+	Splice_Site	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:64695896C>T	ENST00000164133.2	+	6	1343	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CATCTTCCTCCGGTGAGTGGC	0.607000													32	54					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274903	51274903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:51274903C>T	ENST00000270590.4	+	1	1183	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	349						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATCCTGTCCCCGTGGCAAC	0.522000													5	117					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123868522	123868522	+	Silent	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:123868522T>C	ENST00000274008.3	+	9	1662	c.1593T>C	c.(1591-1593)gaT>gaC	p.D531D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	531					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ACCGGCTAGATATTCTCCAGA	0.512000													26	83					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132551986	132551986	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:132551986C>T	ENST00000333577.4	+	51	9046	c.8937C>T	c.(8935-8937)gcC>gcT	p.A2979A	EP400_ENST00000332482.4_Silent_p.A2906A|EP400_ENST00000330386.6_Silent_p.A2862A|EP400_ENST00000389561.2_Silent_p.A2943A|EP400_ENST00000389562.2_Silent_p.A2942A			Q96L91	EP400_HUMAN	E1A binding protein p400	2979					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGAAGGCCATCCAGCCCC	0.647000													38	135					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090567	9090567	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9090567C>T	ENST00000397910.4	-	1	1451	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	416	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGGTCTCCTCTGAGACTA	0.502000													19	81					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090126	52090126	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:52090126T>G	ENST00000262259.2	+	5	900	c.542T>G	c.(541-543)aTg>aGg	p.M181R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	181					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGGGAAAATGATTCGCACG	0.408000													23	91					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79495838	79495838	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:79495838C>T	ENST00000417245.2	+	1	417	c.281C>T	c.(280-282)cCg>cTg	p.P94L	FSCN2_ENST00000334850.7_Missense_Mutation_p.P94L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	94					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGGTCCTGCCGCAGCCAGAT	0.716000													5	3					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42647664	42647664	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:42647664G>A	ENST00000372572.1	-	14	1988	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	FOXJ3_ENST00000372571.1_Silent_p.L73L|FOXJ3_ENST00000545068.1_Silent_p.L559L|FOXJ3_ENST00000372573.1_Silent_p.L559L|FOXJ3_ENST00000361776.1_Silent_p.L525L|FOXJ3_ENST00000361346.1_Silent_p.L559L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	559					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGAAGGAGGGAGATTTTGCC	0.428000													8	16					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35748500	35748500	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:35748500G>A	ENST00000187397.4	+	10	1177	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ARPP21_ENST00000417925.1_Missense_Mutation_p.E241K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E241K|ARPP21_ENST00000444190.1_Missense_Mutation_p.E241K|ARPP21_ENST00000458225.1_Missense_Mutation_p.E241K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	241						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTTAAAAGATGAAAAAGGTGA	0.348000													56	63					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396029	39396029	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:39396029C>T	ENST00000392079.3	+	3	475	c.377C>T	c.(376-378)cCc>cTc	p.P126L	NFKBIB_ENST00000313582.5_Missense_Mutation_p.P158L|NFKBIB_ENST00000572515.1_Missense_Mutation_p.P158L			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	158					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGGAAGCCCCCGACACCTAC	0.692000													30	72					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239560	81239560	+	Silent	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:81239560T>C	ENST00000552864.1	-	4	634	c.432A>G	c.(430-432)gaA>gaG	p.E144E		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	144	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTCCGTGTCTTTCAGCCACCC	0.433000													23	65					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246591	46246591	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:46246591C>T	ENST00000334344.6	+	15	4857	c.4685C>T	c.(4684-4686)cCa>cTa	p.P1562L	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P1172L|ARID2_ENST00000422737.1_Missense_Mutation_p.P1413L|ARID2_ENST00000457135.1_Missense_Mutation_p.P170L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1562					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGCAGATCCAAGCACTGTA	0.453000			"""N, S, F"""		hepatocellular carcinoma								11	65					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418031	4418031	+	Silent	SNP	C	C	T	rs143106881		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:4418031C>T	ENST00000301280.5	+	4	1076	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	325	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAAGAAATTCGTCAAAGGCT	0.348000								Chromatin Structure					30	48					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240560	39240560	+	Silent	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647000													3	61					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36282581	36282581	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:36282581C>T	ENST00000373210.3	+	2	363	c.118C>T	c.(118-120)Cct>Tct	p.P40S		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GGTTCAGATTCCTAAAATAGA	0.433000													24	66					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947802	47947802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:47947802C>T	ENST00000289672.2	-	9	1324	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	425					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACTTCGGTTCCATGAAACTC	0.418000													42	34					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554032	140554032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140554032C>T	ENST00000231137.3	+	1	1790	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		539	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCCGCGCTGAGC	0.692000													48	124					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46600938	46600938	+	Splice_Site	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:46600938G>A	ENST00000398637.5	-	8	1257	c.563_splice	c.e8+1	p.S188_splice	SLC38A1_ENST00000546893.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000552197.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000439706.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	188					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TATAACTTACGAAAATGTCTC	0.313000													3	61					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574936	142574936	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:142574936C>A	ENST00000359396.3	-	4	691	c.446G>T	c.(445-447)gGc>gTc	p.G149V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	149					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.G149V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAAGGCAGTGCCTGTGGCTCT	0.617000													30	159					2.61193e-14	2.73575e-14	1	1	0
GALT	2592	broad.mit.edu	37	9	34649005	34649005	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:34649005C>T	ENST00000378842.3	+	9	873	c.831C>T	c.(829-831)tcC>tcT	p.S277S	GALT_ENST00000450095.2_Silent_p.S168S|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	277					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ATCTAGCCTCCATCATGAAGA	0.517000									Galactosemia				97	134					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127782225	127782225	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:127782225A>C	ENST00000508053.1	-	13	1875	c.901T>G	c.(901-903)Tgc>Ggc	p.C301G	FBN2_ENST00000508989.1_Missense_Mutation_p.C268G|FBN2_ENST00000262464.4_Missense_Mutation_p.C301G			P35556	FBN2_HUMAN	fibrillin 2	301	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCATCTGCATTCAAAAGAG	0.428000													22	52					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246616	65246616	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:65246616C>T	ENST00000389722.3	-	20	4353	c.4300G>A	c.(4300-4302)Gag>Aag	p.E1434K	SPTB_ENST00000542895.1_Missense_Mutation_p.E1434K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1434K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1434K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1434K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1434					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCCCCAGCTCCTCTTTTCGC	0.582000													76	131					0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415704	5415704	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:5415704C>T	ENST00000380433.3	+	2	249	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	7						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						CGGTCCACTTCCTGCTGCTCC	0.612000													115	43					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018530	101018530	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:101018530C>T	ENST00000537247.1	+	10	2589	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	GAS2L3_ENST00000547754.1_Silent_p.G649G|GAS2L3_ENST00000266754.5_Silent_p.G649G|GAS2L3_ENST00000539410.1_Silent_p.G649G			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	649					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGAAGTGGCAAAACCCCAG	0.463000													15	60					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600196	3600196	+	Silent	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:3600196A>C	ENST00000302006.3	+	2	1186	c.1134A>C	c.(1132-1134)gcA>gcC	p.A378A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAACAGCGCATTCCTCGCAC	0.682000													34	40					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69094622	69094622	+	Silent	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:69094622T>G	ENST00000229179.4	+	7	1001	c.669T>G	c.(667-669)gcT>gcG	p.A223A	NUP107_ENST00000378905.2_Silent_p.A72A|NUP107_ENST00000539906.1_Silent_p.A194A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	223					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTGCTGGCTTCTTTGTATA	0.388000													18	65					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243515	12243515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:12243515G>A	ENST00000334213.5	-	4	1710	c.1486C>T	c.(1486-1488)Cat>Tat	p.H496Y	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GTCCTTTCATGATATCGAATG	0.413000													61	177					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19410385	19410385	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:19410385A>G	ENST00000538714.1	+	6	455	c.451A>G	c.(451-453)Aaa>Gaa	p.K151E	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.K151E|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.K151E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.K151E|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.K151E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.K43E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.K151E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.K43E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.K151E|PLEKHA5_ENST00000539256.1_5'UTR	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	151							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGCTTCAAAAAAAGTTCATAA	0.318000													29	47					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238692	126238692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:126238692G>A	ENST00000394329.3	+	1	1139	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	376	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTGGGCACCGTGGTGGCTCT	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	51					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	808727	808727	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:808727C>T	ENST00000356948.6	+	13	1851	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	PTBP1_ENST00000350092.4_Silent_p.F116F|PTBP1_ENST00000349038.4_Silent_p.F450F|PTBP1_ENST00000394601.4_Silent_p.F469F	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	450	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACATATTCCCGCCCTCGG	0.672000													10	34					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945812	144945812	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:144945812G>A	ENST00000525985.1	-	2	1681	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F				P58107	EPIPL_HUMAN	epiplakin 1	537						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCTCCACGGAGAGGGTCCC	0.662000													3	18					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230503753	230503753	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:230503753C>T	ENST00000321327.2	-	2	261	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	PGBD5_ENST00000525115.1_Intron|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	0						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		gttctcttccccacgccacac	0.557000													11	48					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27141292	27141292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:27141292C>T	ENST00000263182.3	+	7	1104	c.736C>T	c.(736-738)Cct>Tct	p.P246S	RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.P246S|BBOX1_ENST00000528583.1_Missense_Mutation_p.P246S|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.P246S|BBOX1_ENST00000527505.1_3'UTR	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	246					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAATAATCCTCAGGCATT	0.358000													14	24					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579557	45579557	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:45579557C>T	ENST00000303809.2	-	1	289	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	25					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTGCATTTCCATCTCGTCGT	0.721000													15	55					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	32					0.004672	0.00469223	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181767893	181767893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:181767893G>A	ENST00000526775.1	+	46	6844	c.6679G>A	c.(6679-6681)Ggg>Agg	p.G2227R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2178R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2289R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2270R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2240R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2246R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1853R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2289					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCGGAGGCGCGGGGGGCCTGG	0.642000													6	36					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493830	100493830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:100493830C>T	ENST00000395996.1	+	25	3781	c.3670C>T	c.(3670-3672)Cag>Tag	p.Q1224*	VPS13B_ENST00000358544.2_Nonsense_Mutation_p.Q1224*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q1224*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1224					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTCAGGTCCAGCTCTTCTA	0.363000													66	67					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482222	135482222	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:135482222T>C	ENST00000394143.1	+	21	8813	c.8522T>C	c.(8521-8523)gTc>gCc	p.V2841A	GPR112_ENST00000394141.1_Missense_Mutation_p.V2636A|GPR112_ENST00000287534.4_Missense_Mutation_p.V2594A|GPR112_ENST00000370652.1_Missense_Mutation_p.V2841A|GPR112_ENST00000412101.1_Missense_Mutation_p.V2636A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2841					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTAGTCAAAGTCTTCAACATA	0.378000													18	50					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796463	78796463	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:78796463A>C	ENST00000545128.1	+	16	2691	c.2153A>C	c.(2152-2154)aAc>aCc	p.N718T	PCSK5_ENST00000376752.4_Missense_Mutation_p.N718T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	718	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAGAAACCAACAGCTGTGTT	0.453000													22	92					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391084	89391084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:89391084C>T	ENST00000336596.2	+	5	1375	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	EPHA3_ENST00000452448.2_Missense_Mutation_p.P384S|EPHA3_ENST00000494014.1_Missense_Mutation_p.P384S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	384	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCGCTTCCTCCCTCGACAGTT	0.473000										TSP Lung(6;0.00050)			27	96					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406348	3406348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3406348G>A	ENST00000304936.2	+	1	460	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCCATCATGAACCCCCAGC	0.607000													15	37					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48730417	48730417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:48730417C>T	ENST00000328631.5	-	3	621	c.398G>A	c.(397-399)cGt>cAt	p.R133H		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	133					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGGTGCTGACGCACCCAGTC	0.463000													57	186					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109944642	109944642	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:109944642T>G	ENST00000271308.4	-	9	739	c.719A>C	c.(718-720)gAc>gCc	p.D240A	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.D182A	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TCCTTAAATGTCCTTGATAAC	0.403000													28	88					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011172	40011172	+	Missense_Mutation	SNP	G	G	A	rs35273913		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:40011172G>A	ENST00000315792.3	+	1	184	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	41					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CAACATCTTTGAAAACACAGA	0.483000													45	29					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35673969	35673969	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:35673969C>T	ENST00000396081.1	-	7	1816	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.V338I	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	338					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCATTGTTAACTTCGGCATTA	0.383000													9	46					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778846	36778846	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:36778846C>T	ENST00000416516.2	-	2	1795	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	435	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCTCCTCCCTGCACGTACT	0.498000													22	85					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065441	35065441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:35065441G>A	ENST00000382002.5	-	10	2045	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P439L|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P439L|PRLR_ENST00000310101.5_Silent_p.S349S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	540					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTGTTCTCAGGAGTCCCGGG	0.473000													19	55					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640955	156640955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156640955G>A	ENST00000368223.3	-	4	3157	c.3025C>T	c.(3025-3027)Cca>Tca	p.P1009S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1009	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCTCGCCTGGGATCCAGACC	0.627000													99	494					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685471	111685471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111685471C>T	ENST00000431670.2	+	14	3500	c.3089C>T	c.(3088-3090)tCa>tTa	p.S1030L	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S987L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S1014L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1030L|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S521L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S987L|PHLDB2_ENST00000470699.2_3'UTR	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1030						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCCAGCACTTCAAATATTGCT	0.423000													22	134					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048950	9048950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9048950G>A	ENST00000397910.4	-	5	32884	c.32681C>T	c.(32680-32682)cCa>cTa	p.P10894L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10896	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGAATTGGAATAGTTGT	0.483000													31	130					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121482100	121482100	+	Silent	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:121482100G>T	ENST00000275159.6	-	24	2795	c.2796C>A	c.(2794-2796)ctC>ctA	p.L932L	TBC1D32_ENST00000398212.2_Silent_p.L891L|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		TCACCTTTTCGAGTAACCTCG	0.398000													33	21					5.04308e-16	5.29409e-16	1	1	0
TENM1	10178	broad.mit.edu	37	X	123779112	123779112	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:123779112C>T	ENST00000422452.2	-	10	1820	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	TENM1_ENST00000371130.3_Missense_Mutation_p.G586E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACACTCTGGCCCCTTCCAGCC	0.522000													200	68					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75115083	75115083	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:75115083T>C	ENST00000290573.2	+	16	2873	c.2273T>C	c.(2272-2274)cTc>cCc	p.L758P	HK2_ENST00000409174.1_Missense_Mutation_p.L730P	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	758	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGTAACATTCTCATCGATTTC	0.478000													29	113					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777007	156777007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156777007C>T	ENST00000392306.2	-	8	1302	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R360K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.R378K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	378	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCTGTCCTCTGTCCTGAAG	0.592000													101	82					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431926	66431926	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:66431926G>A	ENST00000341529.3	+	9	1550	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	468	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGTCCACATTGAAGTTTTGGA	0.542000													50	140					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879778	1879778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:1879778C>T	ENST00000505790.1	-	5	1032	c.576G>A	c.(574-576)tgG>tgA	p.W192*	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Nonsense_Mutation_p.W192*|IRX4_ENST00000513692.1_Nonsense_Mutation_p.W192*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	192					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGTTGGCGAACCAGGTGGAGA	0.642000													63	167					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179660033	179660033	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:179660033G>A	ENST00000444136.1	+	18	3313	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	TDRD5_ENST00000294848.8_Silent_p.R967R|TDRD5_ENST00000367614.1_Silent_p.R967R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	967					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTACATCCAGGAGCCTCCTAC	0.512000													16	58					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817760	13817760	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13817760C>T	ENST00000265104.4	-	42	6989	c.6885G>A	c.(6883-6885)gcG>gcA	p.A2295A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2295	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCAGTAATCGCTTTGGGAT	0.418000									Kartagener syndrome				42	44					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322290	55322290	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:55322290G>A	ENST00000314644.2	+	1	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCCTCACAGCCATGGCCTA	0.493000										HNSCC(20;0.049)			30	71					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50119027	50119027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:50119027C>T	ENST00000418929.2	+	9	5060	c.5048C>T	c.(5047-5049)cCc>cTc	p.P1683L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	862							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCAAGAACCCCGTATCTGCT	0.592000													6	15					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3169515	3169515	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3169515A>G	ENST00000382192.3	+	7	1059	c.854A>G	c.(853-855)gAg>gGg	p.E285G	ZNF205_ENST00000219091.4_Missense_Mutation_p.E285G|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCAACGAGGAGGAGAAGGGC	0.706000													7	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786455	13786455	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13786455T>C	ENST00000265104.4	-	52	8757	c.8653A>G	c.(8653-8655)Aca>Gca	p.T2885A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2885					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCAGATGTTTCACCTTTG	0.353000									Kartagener syndrome				8	35					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485604	121485604	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121485604C>T	ENST00000260197.7	+	41	5573	c.5444C>T	c.(5443-5445)tCc>tTc	p.S1815F	SORL1_ENST00000532694.1_Missense_Mutation_p.S661F|SORL1_ENST00000534286.1_Missense_Mutation_p.S725F|SORL1_ENST00000525532.1_Missense_Mutation_p.S759F|SORL1_ENST00000527934.1_Missense_Mutation_p.S430F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1815	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTCATACATCCTATGAGATT	0.507000													15	39					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205129291	205129291	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:205129291G>C	ENST00000367162.3	-	8	2086	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.P686A	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	686	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCATCTGGAGGGACAACT	0.493000													50	194					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968068	99968068	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:99968068C>A	ENST00000298999.3	+	5	500	c.197C>A	c.(196-198)cCg>cAg	p.P66Q	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P66Q|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AAAGACAAACCGGAGGCTCGA	0.368000													24	72					9.57634e-11	9.85238e-11	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072073	34072073	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:34072073G>A	ENST00000254466.6	-	6	2470	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	GAS2L2_ENST00000587565.1_Silent_p.L799L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	815					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTCTCAACAGCCTGTCCTTG	0.632000													49	54					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295565	29295565	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:29295565C>T	ENST00000331664.5	-	1	1562	c.1563G>A	c.(1561-1563)cgG>cgA	p.R521R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	521					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATGGGCTTTCCCGGTCAGCAG	0.527000													25	111					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49164710	49164710	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:49164710G>A	ENST00000307885.4	-	19	3789	c.3095C>T	c.(3094-3096)aCg>aTg	p.T1032M	ADCY6_ENST00000357869.3_Missense_Mutation_p.T979M|ADCY6_ENST00000550422.1_Missense_Mutation_p.T979M	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1032					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCTACCAATCGTCTTGATCTT	0.597000													23	53					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008327	11008327	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:11008327A>C	ENST00000377004.4	-	12	1864	c.1865T>G	c.(1864-1866)gTg>gGg	p.V622G	C1orf127_ENST00000377008.4_Missense_Mutation_p.V455G	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	473										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGCCTCTCCACCTCCGTTCC	0.662000													45	98					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549307	58549307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:58549307G>A	ENST00000282326.1	+	3	350	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.E35K|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.E35K	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGGGACACCGAAGCCCAGCG	0.716000													14	32					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076544	226076544	+	Missense_Mutation	SNP	C	C	T	rs146054726		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:226076544C>T	ENST00000272134.5	-	1	302	c.223G>A	c.(223-225)Gga>Aga	p.G75R	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	75					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AACCTCTTTCCGCGGGAGCGG	0.682000													13	74					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236621	49236621	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:49236621G>A	ENST00000327979.2	-	3	570	c.159C>T	c.(157-159)tcC>tcT	p.S53S	FAM65C_ENST00000535356.1_Silent_p.S57S|FAM65C_ENST00000045083.2_Silent_p.S53S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	53										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATCTTGGAGGATTTTGCAG	0.542000													16	130					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224452	107224452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:107224452G>A	ENST00000302917.1	-	3	889	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	266										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGCTGGACAGGAAGAGGCTCC	0.527000													58	110					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374050	140374050	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140374050C>T	ENST00000072869.4	+	1	1098	c.920C>T	c.(919-921)tCc>tTc	p.S307F	ADCK2_ENST00000476491.1_Missense_Mutation_p.S307F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AACCTCATCTCCGTGGCAGTG	0.557000													22	98					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363264	70363264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:70363264C>T	ENST00000288071.6	+	8	922	c.677C>T	c.(676-678)tCc>tTc	p.S226F	DDX19B_ENST00000393657.2_Missense_Mutation_p.S117F|DDX19B_ENST00000568625.1_Missense_Mutation_p.S117F|DDX19B_ENST00000563392.1_Missense_Mutation_p.S117F|DDX19B_ENST00000563206.1_Missense_Mutation_p.S231F|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000451014.3_Missense_Mutation_p.S200F|DDX19B_ENST00000355992.3_Missense_Mutation_p.S195F	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	226	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GACTGGTGCTCCAAGCTCAAG	0.507000													39	26					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121444982	121444982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121444982C>T	ENST00000260197.7	+	24	3499	c.3370C>T	c.(3370-3372)Cgt>Tgt	p.R1124C	SORL1_ENST00000525532.1_Missense_Mutation_p.R68C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1124	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACCCAGTTTCGTTGCCAGGA	0.438000													35	81					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614177	48614177	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:48614177C>T	ENST00000268933.3	+	2	839	c.260C>T	c.(259-261)aCg>aTg	p.T87M	EPN3_ENST00000541226.1_Missense_Mutation_p.T31M|EPN3_ENST00000537145.1_Missense_Mutation_p.T142M	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	87	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTGCTCAAGACGGGCTCCGAG	0.612000													62	127					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653438	159653438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:159653438C>T	ENST00000297267.9	+	11	2094	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R569C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	632						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCTCTCATCGTCCTTCCCT	0.677000													32	36					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	rs151117992	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632000													4	58					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384854	58384854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:58384854C>T	ENST00000435989.2	-	3	2138	c.1904G>A	c.(1903-1905)gGa>gAa	p.G635E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	635					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCCACAGTCTCCACACTTGTA	0.438000													4	69					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609492	28609492	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:28609492G>A	ENST00000434452.1	-	4	611	c.457C>T	c.(457-459)Cca>Tca	p.P153S	DSC3_ENST00000360428.4_Missense_Mutation_p.P153S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	153	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGAAACAATGGGAAAGGGCCC	0.408000													14	44					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585866	7585866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:7585866C>T	ENST00000379802.3	+	24	8712	c.8371C>T	c.(8371-8373)Cgc>Tgc	p.R2791C	DSP_ENST00000418664.2_Missense_Mutation_p.R2192C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2791	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCATAAATCGCTCCATGGT	0.542000													168	268					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544382	103544382	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:103544382G>A	ENST00000358392.2	-	3	637	c.320C>T	c.(319-321)cCa>cTa	p.P107L	COL11A1_ENST00000370096.3_Missense_Mutation_p.P107L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P107L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P107L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	107	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTTTTTTTGGTTTTACTGT	0.328000													11	17					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176955	193176955	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:193176955A>C	ENST00000342695.4	-	14	1911	c.1589T>G	c.(1588-1590)aTg>aGg	p.M530R	ATP13A4_ENST00000295548.3_Missense_Mutation_p.M530R|ATP13A4_ENST00000392443.3_Missense_Mutation_p.M511R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	530					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGCTGGCCATCGCTGCACA	0.537000													32	131					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52505549	52505549	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:52505549T>G	ENST00000216286.5	-	9	2172	c.2173A>C	c.(2173-2175)Aac>Cac	p.N725H	NID2_ENST00000541773.1_Missense_Mutation_p.N672H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	725	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTCCACGTTCAGCTGCTGG	0.512000													17	115					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048763	50048763	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:50048763G>A	ENST00000371564.3	-	9	2782	c.2563C>T	c.(2563-2565)Ctg>Ttg	p.L855L	NFATC2_ENST00000414705.1_Silent_p.L835L|NFATC2_ENST00000396009.3_Silent_p.L855L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	855					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCGGGCTCAGCCTCTGACCT	0.592000													48	130					0	0	1	0	0
SNRPD2	6633	broad.mit.edu	37	19	46190861	46190861	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:46190861C>A	ENST00000342669.3	-	3	751	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	SNRPD2_ENST00000588301.1_Missense_Mutation_p.G103W|SNRPD2_ENST00000587367.1_Missense_Mutation_p.G93W|SNRPD2_ENST00000585392.1_Missense_Mutation_p.G39W|SNRPD2_ENST00000391932.3_Missense_Mutation_p.G93W|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Missense_Mutation_p.G93W	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	103					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACTGAGTCCCCGCGCAGGAAC	0.572000													38	54					1.04594e-18	1.10803e-18	1	1	0
PPCS	79717	broad.mit.edu	37	1	42922612	42922612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:42922612C>T	ENST00000372561.3	+	1	383	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.P126S	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	126					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAATGCACTTCCGGGTTTTGC	0.622000													23	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434096	179434096	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179434096C>T	ENST00000589042.1	-	326	76987	c.76763G>A	c.(76762-76764)gGa>gAa	p.G25588E	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23020E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16648E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16715E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16523E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23947E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23947	Fibronectin type-III 86.						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)			AGACTTTGTTCCACTGCTGTT	0.398000													52	137					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311216	196311216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:196311216G>A	ENST00000367433.5	-	15	1647	c.1546C>T	c.(1546-1548)Cac>Tac	p.H516Y	KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.H516Y|KCNT2_ENST00000451324.2_Missense_Mutation_p.H127Y|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	516	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TACTTTTTGTGTGCATGGAAA	0.323000													7	53					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531775	31531775	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr22:31531775G>A	ENST00000215885.3	-	7	1716	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	488					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCAGGCACTGGTTGTAGAATG	0.602000													124	44					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462777	56462777	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:56462777T>C	ENST00000370754.5	-	47	11862	c.11863A>G	c.(11863-11865)Agc>Ggc	p.S3955G	DST_ENST00000361203.3_Missense_Mutation_p.S3775G|DST_ENST00000244364.6_Missense_Mutation_p.S1363G|DST_ENST00000370769.4_Missense_Mutation_p.S3777G|DST_ENST00000421834.2_Missense_Mutation_p.S1689G|DST_ENST00000370788.2_Missense_Mutation_p.S1689G|DST_ENST00000446842.2_Missense_Mutation_p.S3451G|DST_ENST00000312431.6_Missense_Mutation_p.S3775G			Q03001	DYST_HUMAN	dystonin	3775					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGGTTTTGCTCTCTTCCAGC	0.438000													23	42					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051636	96051636	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:96051636G>A	ENST00000356055.3	+	0	4600				WNK2_ENST00000349097.3_Missense_Mutation_p.D1183N|WNK2_ENST00000395477.2_Missense_Mutation_p.D1534N|WNK2_ENST00000297954.4_Missense_Mutation_p.D1571N|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.D1146N			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGGAGTCGGATGGGGAAGG	0.706000													5	36					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522426	144522426	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:144522426G>A	ENST00000262577.5	-	11	2631	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	867					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGAGGATGAGGGAGAGGCTGA	0.677000													6	12					0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2255220	2255220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:2255220C>A	ENST00000300961.5	-	2	158	c.94G>T	c.(94-96)Gag>Tag	p.E32*	JSRP1_ENST00000586471.1_Nonsense_Mutation_p.E32*	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	32	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGTCCTCCTGGGTCTCG	0.647000													9	59					0.00448238	0.00451155	1	1	0
KCND3	3752	broad.mit.edu	37	1	112524968	112524968	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:112524968G>A	ENST00000369697.1	-	1	450	c.381C>T	c.(379-381)atC>atT	p.I127I	KCND3_ENST00000302127.4_Silent_p.I127I|KCND3_ENST00000315987.2_Silent_p.I127I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	127						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTCCCCGATGATCTCCGGGA	0.607000													27	51					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275188	150275188	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:150275188C>A	ENST00000446148.2	-	7	2088	c.1661G>T	c.(1660-1662)gGa>gTa	p.G554V	ZNF300_ENST00000274599.5_Missense_Mutation_p.G538V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G538V|ZNF300_ENST00000418587.2_Missense_Mutation_p.G502V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGTGTCCCGGAAGGTG	0.423000													19	36					3.57192e-18	3.77534e-18	1	1	0
KRT38	8687	broad.mit.edu	37	17	39596836	39596836	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39596836T>G	ENST00000246646.3	-	1	337	c.338A>C	c.(337-339)gAc>gCc	p.D113A		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	113	Coil 1A.|Rod.			D -> G (in Ref. 6; CAH10351).		intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCCAGGCGGTCATTCAGGAA	0.587000													72	61					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74923643	74923643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:74923643G>A	ENST00000262144.6	-	21	2283	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	718										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCGAGCCCAGGGTGTTTCCAA	0.463000													17	61					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508057	14508057	+	Silent	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:14508057T>G	ENST00000344204.4	+	57	8844	c.8820T>G	c.(8818-8820)gcT>gcG	p.A2940A	TRIO_ENST00000344135.5_Silent_p.A439A|TRIO_ENST00000537187.1_Silent_p.A2764A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2940	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGGAGATGCTGTTCAGCTCA	0.498000													9	54					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747328	19747328	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:19747328G>C	ENST00000507958.1	-	6	1236	c.246C>G	c.(244-246)gaC>gaG	p.D82E	CDH18_ENST00000502796.1_Missense_Mutation_p.D82E|CDH18_ENST00000274170.4_Missense_Mutation_p.D82E|CDH18_ENST00000506372.1_Missense_Mutation_p.D82E|CDH18_ENST00000382275.1_Missense_Mutation_p.D82E|CDH18_ENST00000511273.1_Missense_Mutation_p.D82E			Q13634	CAD18_HUMAN	cadherin 18, type 2	82	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCACCTTTGTCAGAATTGG	0.383000													17	56					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847658	130847658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:130847658G>A	ENST00000245255.3	+	18	2436	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	722	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACAGTTTTTGGATTGTCTAAA	0.423000													17	80					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68642977	68642977	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:68642977C>T	ENST00000423218.2	-	9	1133	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	ITGA11_ENST00000315757.7_Silent_p.G346G			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	346					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGATTCTGTCCCCCAGGGCAT	0.483000													22	48					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982920	92982920	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:92982920A>T	ENST00000523629.1	-	11	1959	c.1505T>A	c.(1504-1506)cTg>cAg	p.L502Q	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L475Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L465Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L502Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L513Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L475Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L465Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L465Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	502					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAACTGCCAGTGCGTCCTC	0.537000													32	21					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197409405	197409405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:197409405G>A	ENST00000273582.5	-	15	2472	c.1927C>T	c.(1927-1929)Cgt>Tgt	p.R643C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R713C|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R688C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	688					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AAGTTGCCACGAACACGAATC	0.577000													31	45					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7674161	7674161	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:7674161G>A	ENST00000572933.1	+	27	5732	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K	DNAH2_ENST00000389173.2_Silent_p.K1424K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1424	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGAGAAGGATGTGGACC	0.493000													39	117					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39212329	39212329	+	Splice_Site	SNP	G	G	A	rs111813739		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:39212329G>A	ENST00000252699.2	+	12	1518		c.e12+1		ACTN4_ENST00000390009.3_Splice_Site|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4						platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAGCTCAAGTACGTGCGGG	0.652000													21	57					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507120	74507120	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:74507120C>T	ENST00000354431.4	-	7	1686	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E499K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	499										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTTTTCTCTCTCTAGCTTTT	0.338000													26	63					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364187	4364187	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:4364187C>A	ENST00000269886.3	-	5	541	c.363G>T	c.(361-363)atG>atT	p.M121I	SH3GL1_ENST00000598564.1_Intron|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.M73I	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	121	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCAGGCGCTTCATGGACTCGC	0.587000			T	MLL	AL								25	75					3.28513e-13	3.41006e-13	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113265480	113265480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:113265480G>A	ENST00000401783.2	-	6	1657	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	SVEP1_ENST00000374461.1_Missense_Mutation_p.L418F|SVEP1_ENST00000374469.1_Missense_Mutation_p.L418F|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.L441F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	441	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCTGGCGGAGATGAGGACAT	0.373000													52	52					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072446	108072446	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:108072446C>T	ENST00000357759.5	+	4	651	c.237C>T	c.(235-237)gaC>gaT	p.D79D	HHLA2_ENST00000467761.1_Silent_p.D79D|HHLA2_ENST00000489514.2_Silent_p.D79D|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Silent_p.D79D	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	79	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AAGGCAGTGACCATTTGGAAA	0.398000													12	64					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34649004	34649004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:34649004C>T	ENST00000378842.3	+	9	872	c.830C>T	c.(829-831)tCc>tTc	p.S277F	GALT_ENST00000450095.2_Missense_Mutation_p.S168F|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	277					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GATCTAGCCTCCATCATGAAG	0.517000									Galactosemia				94	134					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64827280	64827280	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:64827280T>G	ENST00000332707.5	+	19	2878	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	783	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGAAGAAAATGACCAGTCTG	0.453000													38	158					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131141	66131141	+	RNA	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:66131141A>G	ENST00000590019.1	-	0	298																											GGTCTCCAGGAGGTTGTGCAT	0.612000													7	13					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138921784	138921784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:138921784G>A	ENST00000288561.8	+	2	502	c.253G>A	c.(253-255)Gat>Aat	p.D85N	UBN2_ENST00000473989.2_Missense_Mutation_p.D168N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	168	Pro-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCATTTAATGATGAACATCA	0.323000													25	145					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573937	49573937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49573937G>A	ENST00000221444.1	-	2	1109	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	252						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		ACAAAGTAGGGAAGGATAGCC	0.567000													37	93					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50708721	50708721	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:50708721C>A	ENST00000355832.5	-	7	1626	c.1548G>T	c.(1546-1548)agG>agT	p.R516S	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	516					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCACAGCCACCTAACACCTG	0.453000								Direct reversal of damage;Nucleotide excision repair (NER)					18	56					0.000132079	0.000133518	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71360307	71360307	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:71360307G>C	ENST00000373677.1	+	2	3073	c.1811G>C	c.(1810-1812)aGt>aCt	p.S604T	NHSL2_ENST00000510661.1_Missense_Mutation_p.S739T|NHSL2_ENST00000535692.1_Missense_Mutation_p.S604T|NHSL2_ENST00000540800.1_Missense_Mutation_p.S970T			F5H593	F5H593_HUMAN	NHS-like 2	970										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCCCAGGGAAGTGTAGAGGAC	0.537000													4	16					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655486	38655486	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:38655486C>T	ENST00000222345.6	+	15	4657	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1383					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGTACTCCTCCGGCTCCAGC	0.687000													23	20					0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97751483	97751483	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:97751483G>A	ENST00000414820.1	-	6	908	c.638C>T	c.(637-639)aCc>aTc	p.T213I	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T213I|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T213I			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	213							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						AGGGCAGAAGGTGTCGAAGGT	0.592000													43	71					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722577	50722577	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr22:50722577G>A	ENST00000449103.1	-	13	2387	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.I749I			O15031	PLXB2_HUMAN	plexin B2	749					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		GCTTGCTGTCGATATTCTTGC	0.682000													61	37					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				72	84					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715094	55715094	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:55715094C>T	ENST00000379668.2	+	1	749	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGCCTTTTCCACATGTTCTT	0.383000													22	21					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471421	146471421	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:146471421C>T	ENST00000361727.3	+	2	672	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	52	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCTCCTCCTCCATCTCTG	0.428000										HNSCC(39;0.1)			26	31					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359783	71359783	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:71359783G>A	ENST00000373677.1	+	2	2549	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	NHSL2_ENST00000510661.1_Silent_p.K564K|NHSL2_ENST00000535692.1_Silent_p.K429K|NHSL2_ENST00000540800.1_Silent_p.K795K			F5H593	F5H593_HUMAN	NHS-like 2	795										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCAAAACTAAGGTGAGTCGGC	0.488000													11	20					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590601	136590601	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:136590601C>T	ENST00000531224.1	-	9	2445	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	BCLAF1_ENST00000527759.1_Silent_p.K729K|BCLAF1_ENST00000392348.2_Silent_p.K729K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Silent_p.K731K|BCLAF1_ENST00000530767.1_Silent_p.K558K|BCLAF1_ENST00000353331.4_Silent_p.K729K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	731					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTTGTATTCCTTGTAATCTT	0.368000													4	44					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:177142371C>T	ENST00000296525.3	-	5	718	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_ENST00000512254.1_Missense_Mutation_p.G149E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	202					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GAGAGGAGTTCCCAAATGAGG	0.403000													31	28					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247435	97247435	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:97247435G>A	ENST00000229955.3	-	2	518	c.173C>T	c.(172-174)tCc>tTc	p.S58F	GPR63_ENST00000417980.1_Missense_Mutation_p.S58F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	58						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CACGGTCAAGGAACTCAAACC	0.438000													46	30					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482523	20482523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:20482523G>A	ENST00000305045.2	-	1	829	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTAAAAATGGTATAAAACAC	0.428000													24	94					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143065	55143065	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:55143065G>A	ENST00000396331.1	+	5	542	c.185G>A	c.(184-186)aGa>aAa	p.R62K	LILRB1_ENST00000434867.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396317.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396321.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396327.3_Missense_Mutation_p.R62K|LILRB1_ENST00000427581.2_Missense_Mutation_p.R98K|LILRB1_ENST00000396315.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396332.4_Missense_Mutation_p.R62K|LILRB1_ENST00000418536.2_Missense_Mutation_p.R62K|LILRB1_ENST00000324602.7_Missense_Mutation_p.R62K|LILRB1_ENST00000448689.1_Missense_Mutation_p.R62K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	62	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTCTATATAGAGAAAAGAAA	0.582000										HNSCC(37;0.09)			84	97					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733889	28733889	+	RNA	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:28733889G>A	ENST00000550043.1	+	0	294																											TGGTGACATGGAAAAAATACT	0.507000													39	60					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245503	49245503	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49245503T>G	ENST00000332955.2	-	7	1110	c.563A>C	c.(562-564)cAg>cCg	p.Q188P		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	188	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCCGAAGCCTGATGCCAGTT	0.493000													32	129					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165248	50165248	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:50165248C>T	ENST00000597198.1	-	6	1320	c.939G>A	c.(937-939)aaG>aaA	p.K313K	IRF3_ENST00000593922.1_Silent_p.K167K|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000598808.1_Silent_p.K167K|IRF3_ENST00000600911.1_Silent_p.K313K|IRF3_ENST00000601291.1_Silent_p.K313K|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377139.3_Silent_p.K313K|IRF3_ENST00000599144.1_Silent_p.K167K|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000309877.7_Silent_p.K313K|IRF3_ENST00000596822.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	313	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CTTCCTTGTCCTTGGGGACCT	0.627000													65	200					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160444	41160444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:41160444C>T	ENST00000263413.3	-	11	1748	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R495K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	495	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGGGATGTTTCTTACCAAGTC	0.502000													52	79					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842193	32842193	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:32842193G>A	ENST00000341071.7	-	9	888	c.877C>T	c.(877-879)Cca>Tca	p.P293S	BSDC1_ENST00000419121.2_Missense_Mutation_p.P220S|BSDC1_ENST00000455895.2_Missense_Mutation_p.P276S|BSDC1_ENST00000413080.1_Missense_Mutation_p.P215S|BSDC1_ENST00000449308.1_Missense_Mutation_p.P276S|BSDC1_ENST00000446293.2_Missense_Mutation_p.P293S|BSDC1_ENST00000526031.1_Missense_Mutation_p.P181S			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	276							protein binding	p.P293S(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTCTGATGGAGTCACCTCT	0.567000													35	122					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215876	20215876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:20215876G>A	ENST00000331723.1	+	1	290	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTTCAGGATGCCTGGCC	0.473000													23	94					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149908093	149908093	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:149908093G>A	ENST00000439741.2	-	2	346	c.96C>T	c.(94-96)ccC>ccT	p.P32P	MTMR11_ENST00000361405.6_Silent_p.P32P|MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.P4P	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	32							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GACGACTCCTGGGCTCCGGCA	0.557000													98	46					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685155	44685155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:44685155C>T	ENST00000454036.1	+	23	3207	c.3131C>T	c.(3130-3132)cCc>cTc	p.P1044L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P1021L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1044					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AATAAGGGCCCCAGTCCTGTC	0.612000													18	99					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408594	40408594	+	Silent	SNP	G	G	A	rs141092836		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:40408594G>A	ENST00000221347.6	-	8	4252	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1415	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGTTGCCGAACTCATTGG	0.632000													23	73					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61952392	61952392	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:61952392G>C	ENST00000422202.1	+	25	3270	c.3202G>C	c.(3202-3204)Gtg>Ctg	p.V1068L	COL20A1_ENST00000358894.6_Missense_Mutation_p.V1061L|COL20A1_ENST00000435874.1_Missense_Mutation_p.V1068L|COL20A1_ENST00000326996.6_Missense_Mutation_p.V1061L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1061					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCGCCTTCGTGTCTGCCTG	0.607000													18	7					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877922	28877922	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:28877922C>T	ENST00000337120.5	+	1	3798	c.507C>T	c.(505-507)atC>atT	p.I169I	SH2B1_ENST00000359285.5_Silent_p.I169I|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Silent_p.I169I|SH2B1_ENST00000322610.8_Silent_p.I169I|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	169	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCCGTGGCATCCTGCAGTGGC	0.622000													26	63					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34933922	34933922	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:34933922A>T	ENST00000382021.2	+	2	327	c.100A>T	c.(100-102)Aaa>Taa	p.K34*	DNAJC21_ENST00000303525.7_Nonsense_Mutation_p.K34*|DNAJC21_ENST00000342382.4_Nonsense_Mutation_p.K34*	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	34	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTAACAGATAAAAATCTGGA	0.378000													31	24					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116594303	116594303	+	Silent	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:116594303A>C	ENST00000410059.1	+	24	2643	c.2163A>C	c.(2161-2163)atA>atC	p.I721I	DPP10_ENST00000393147.2_Silent_p.I725I|DPP10_ENST00000409163.1_Silent_p.I671I|DPP10_ENST00000310323.8_Silent_p.I714I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	721					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATATTAATAATTCATGGAA	0.348000													35	120					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168070	7168070	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:7168070T>C	ENST00000341500.5	-	7	1558	c.1519A>G	c.(1519-1521)Aca>Gca	p.T507A	INSR_ENST00000302850.5_Missense_Mutation_p.T507A	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	507					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAAAAGATGTCCGAATGTAA	0.433000													15	54					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53755252	53755252	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:53755252G>A	ENST00000306052.6	-	3	455	c.354C>T	c.(352-354)tcC>tcT	p.S118S	LRP8_ENST00000371454.2_Silent_p.S118S|LRP8_ENST00000354412.3_Silent_p.S118S|LRP8_ENST00000347547.2_Silent_p.S118S|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.2_ENST00000421637.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	118	LDL-receptor class A 2.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AAGTGGCCTCGGACTCATCGG	0.602000													7	8					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772217	118772217	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118772217G>A	ENST00000334801.3	-	6	3199	c.2235C>T	c.(2233-2235)ggC>ggT	p.G745G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	745	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGAGGCCCCGGCCTCCACCAA	0.637000													35	94					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006709	149006709	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:149006709A>T	ENST00000333677.6	+	11	1698	c.1535A>T	c.(1534-1536)cAg>cTg	p.Q512L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	512	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGCTGTACCAGGTGACAAGC	0.587000													4	170					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205290681	205290681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:205290681C>T	ENST00000367157.3	-	1	202	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	26					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGATCAGCCCTTCCGCCAGC	0.672000													13	60					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027740	150027740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:150027740G>A	ENST00000343855.4	+	1	803	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		TTGCTTCAAGGGGAAGATTGA	0.567000													41	213					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52876394	52876394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:52876394G>T	ENST00000422689.2	+	2	58	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	ZNF880_ENST00000595099.1_3'UTR|ZNF880_ENST00000344085.5_Nonsense_Mutation_p.E15*|ZNF880_ENST00000597976.1_Nonsense_Mutation_p.E15*|ZNF880_ENST00000600321.1_Nonsense_Mutation_p.E15*|ZNF880_ENST00000424032.2_Nonsense_Mutation_p.E15*	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	15	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CGTGGCCATAGAATTCCCTCA	0.463000													24	130					9.80776e-20	1.04137e-19	1	1	0
MSH2	4436	broad.mit.edu	37	2	47703538	47703538	+	Nonsense_Mutation	SNP	C	C	T	rs63749932		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:47703538C>T	ENST00000406134.1	+	13	2100	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	MSH2_ENST00000543555.1_Nonsense_Mutation_p.R614*|MSH2_ENST00000233146.2_Nonsense_Mutation_p.R680*			P43246	MSH2_HUMAN	mutS homolog 2	680					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.R680*(4)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACATATATTCGACAAACTGG	0.398000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	44					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310251	10310251	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:10310251G>T	ENST00000403437.2	-	18	2105	c.2011C>A	c.(2011-2013)Cac>Aac	p.H671N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	671	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.H671Y(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTACGAAGTGAGGGTGTGTG	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				11	39					1.08611e-07	1.10516e-07	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745537	77745537	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:77745537C>T	ENST00000409088.3	-	3	1872	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	LRRTM4_ENST00000409884.1_Silent_p.V486V|LRRTM4_ENST00000409093.1_Silent_p.V486V|LRRTM4_ENST00000409911.1_Silent_p.V487V|LRRTM4_ENST00000409282.1_Silent_p.V487V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	486						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTTGTAGTCCACATAATACT	0.458000													8	38					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:137235267G>C	ENST00000508638.1	+	5	642	c.587G>C	c.(586-588)cGa>cCa	p.R196P	PKD2L2_ENST00000502810.1_Missense_Mutation_p.R196P|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R196P|PKD2L2_ENST00000350250.4_Missense_Mutation_p.R162P|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R196P	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	196						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGTTTACCGAAATGGGGGA	0.383000													18	44					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377642	230377642	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:230377642G>A	ENST00000341772.4	-	6	1138	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	335	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAGGTACAGGAAAAAGTTGC	0.438000													8	41					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806988	15806988	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:15806988G>A	ENST00000550308.1	+	11	1647	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	CYP4F12_ENST00000324632.9_Missense_Mutation_p.D423N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTGCCTCATCGATATTATAGG	0.572000													33	137					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507014	164507014	+	Missense_Mutation	SNP	G	G	A	rs146337383		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:164507014G>A	ENST00000503008.1	-	6	1286	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	MARCH1_ENST00000514618.1_Missense_Mutation_p.R360C|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87C|MARCH1_ENST00000274056.7_Missense_Mutation_p.R104C	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	104					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGACAAAGCGCAGTGTCCCA	0.527000													22	36					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86622031	86622031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:86622031C>T	ENST00000370571.2	-	1	415	c.49G>A	c.(49-51)Gca>Aca	p.A17T	COL24A1_ENST00000485434.1_5'UTR|COL24A1_ENST00000436319.1_Missense_Mutation_p.A17T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	17					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TACGTTTTTGCCGTGGGGGAG	0.542000													4	174					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711759	155711759	+	Silent	SNP	A	A	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:155711759A>T	ENST00000295101.2	+	3	1917	c.1440A>T	c.(1438-1440)ggA>ggT	p.G480G		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	480					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGGCTGGAGGAGCAGCTAGGA	0.423000													7	31					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73750930	73750930	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:73750930G>C	ENST00000556772.1	-	4	2663	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	NUMB_ENST00000559312.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.Q259E|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000359560.3_Missense_Mutation_p.Q259E|NUMB_ENST00000555394.1_Missense_Mutation_p.Q270E|NUMB_ENST00000555238.1_Missense_Mutation_p.Q270E|NUMB_ENST00000356296.4_Missense_Mutation_p.Q270E|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Missense_Mutation_p.Q259E|NUMB_ENST00000355058.3_Missense_Mutation_p.Q270E|NUMB_ENST00000535282.1_Missense_Mutation_p.Q259E|NUMB_ENST00000544991.3_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	270	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CGAGCAAGCTGTTCAATTGGA	0.532000													32	115					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48675031	48675031	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:48675031C>T	ENST00000334136.5	+	19	1960	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	HDAC6_ENST00000376619.2_Silent_p.L594L|HDAC6_ENST00000444343.2_Silent_p.L608L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	594	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGCTGTGCTCTCAGGAGAGG	0.582000													21	8					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874452	10874452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:10874452G>A	ENST00000379491.4	-	5	1444	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	433					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGTCACCGGAGGACCCCAG	0.547000													18	53					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565421	38565421	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:38565421C>T	ENST00000287675.5	+	6	771	c.675C>T	c.(673-675)ccC>ccT	p.P225P	EXOG_ENST00000422077.2_Silent_p.P175P|EXOG_ENST00000358249.2_Silent_p.P85P	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	225						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGCAGTCCCCTCACACCTTT	0.478000													44	51					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187822	121187822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:121187822C>T	ENST00000321339.1	+	1	173	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	55					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCCGCCTCCTCCCGGGACCCT	0.761000													14	11					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675465	7675465	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:7675465C>T	ENST00000446248.2	+	8	1046	c.945C>T	c.(943-945)tcC>tcT	p.S315S	CAMSAP3_ENST00000160298.4_Silent_p.S288S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	288					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCCCCTGTCCCTTGAGGACT	0.647000													53	164					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374045	140374045	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140374045C>T	ENST00000072869.4	+	1	1093	c.915C>T	c.(913-915)ctC>ctT	p.L305L	ADCK2_ENST00000476491.1_Silent_p.L305L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	305	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCACCAACCTCATCTCCGTGG	0.557000													24	102					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641084	57641084	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:57641084G>A	ENST00000254181.4	+	4	1495	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	USP29_ENST00000598197.1_Silent_p.K347K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	347					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGATCAAGAGAGAATTAC	0.383000													21	88					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13807752	13807752	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13807752T>G	ENST00000265104.4	-	47	7939	c.7835A>C	c.(7834-7836)cAc>cCc	p.H2612P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2612	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGATCATGTGACATTCAGG	0.378000									Kartagener syndrome				5	19					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207090	121207090	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:121207090G>A	ENST00000264233.5	-	16	4816	c.4688C>T	c.(4687-4689)tCt>tTt	p.S1563F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1563					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATCTGAACAGAATCCATTTC	0.343000								DNA polymerases (catalytic subunits)					24	80					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67698933	67698933	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:67698933C>T	ENST00000545606.1	+	10	1922	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	495					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATTTGAAGATCGATGCTTTGT	0.398000													26	94					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925303	54925303	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:54925303T>A	ENST00000293373.6	+	24	2712	c.2633T>A	c.(2632-2634)cTt>cAt	p.L878H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L828H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	878					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGGACATACTTGTTCAGATC	0.493000													80	103					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061069	9061069	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9061069G>A	ENST00000397910.4	-	3	26580	c.26377C>T	c.(26377-26379)Cat>Tat	p.H8793Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8795	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCAGAATGACCTGTTTTG	0.502000													67	74					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394012	45394012	+	Missense_Mutation	SNP	C	C	T	rs143124929		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:45394012C>T	ENST00000389039.6	-	21	3215	c.2830G>A	c.(2830-2832)Ggt>Agt	p.G944S	DUOX2_ENST00000603300.1_Missense_Mutation_p.G944S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	944					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCACCTCCACCTTTGACACAG	0.582000													20	31					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139075	64139075	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:64139075C>T	ENST00000545618.1	-	5	956	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.E136E|ZC4H2_ENST00000337990.2_Silent_p.E113E|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	136							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTTCTGCTTCTCAAAGTAAC	0.532000													31	25					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564120	57564120	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:57564120G>A	ENST00000524630.1	+	6	1125	c.612G>A	c.(610-612)agG>agA	p.R204R	CTNND1_ENST00000428599.2_Silent_p.R204R|CTNND1_ENST00000361796.4_Silent_p.R204R|CTNND1_ENST00000529526.1_Silent_p.R150R|CTNND1_ENST00000360682.6_Silent_p.R204R|CTNND1_ENST00000361391.6_Silent_p.R204R|CTNND1_ENST00000528621.1_Silent_p.R150R|CTNND1_ENST00000529873.1_Silent_p.R150R|CTNND1_ENST00000529919.1_Silent_p.R204R|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000530748.1_Silent_p.R150R|CTNND1_ENST00000415361.2_Silent_p.R103R|CTNND1_ENST00000532649.1_Silent_p.R150R|CTNND1_ENST00000358694.6_Silent_p.R204R|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000534579.1_Silent_p.R150R|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532463.1_Silent_p.R103R|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Silent_p.R103R|CTNND1_ENST00000530094.1_Silent_p.R103R|CTNND1_ENST00000528232.1_Silent_p.R103R|CTNND1_ENST00000526357.1_Silent_p.R150R|CTNND1_ENST00000529986.1_Silent_p.R103R|CTNND1_ENST00000361332.4_Silent_p.R204R|CTNND1_ENST00000426142.2_Silent_p.R103R|CTNND1_ENST00000532787.1_Silent_p.R103R|CTNND1_ENST00000526938.1_Silent_p.R204R|CTNND1_ENST00000532844.1_Silent_p.R150R|CTNND1_ENST00000399050.4_Silent_p.R204R|CTNND1_ENST00000399039.4_Silent_p.R204R			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	204					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCTTCCTAGGAACTTCCACT	0.522000													77	176					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188954	98188954	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:98188954C>T	ENST00000332650.5	+	1	631	c.534C>T	c.(532-534)taC>taT	p.Y178Y		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCACTTTTACTGTGATATTC	0.398000													116	171					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399356	179399356	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179399356T>C	ENST00000589042.1	-	358	102210	c.101986A>G	c.(101986-101988)Aca>Gca	p.T33996A	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31428A|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25056A|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25123A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24931A|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32355A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32355	Ig-like 150.						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)			CACATGTCTGTGGCTGTGCTG	0.468000													19	69					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194228	24194228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:24194228G>T	ENST00000309033.4	+	3	368	c.124G>T	c.(124-126)Gag>Tag	p.E42*	UBXN2A_ENST00000404924.1_Nonsense_Mutation_p.E42*|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Nonsense_Mutation_p.E42*	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	42										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TAGCCTTTTTGAGGAAGCTCA	0.333000													37	84					3.76114e-14	3.93056e-14	1	1	0
PAK7	57144	broad.mit.edu	37	20	9546684	9546684	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:9546684C>T	ENST00000378429.3	-	6	1884	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PAK7_ENST00000378423.1_Silent_p.R446R|PAK7_ENST00000353224.5_Silent_p.R446R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	446	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAAGTATTCCCTGGGGTCTC	0.587000													45	94					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475833	25475833	+	RNA	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:25475833C>T	ENST00000453082.2	+	0	1428					NR_003343.1																						AGACTTCTGTCGGCCTCGCTT	0.617000													10	16					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878176	49878176	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49878176G>A	ENST00000221498.2	+	5	1025	c.620G>A	c.(619-621)gGg>gAg	p.G207E	DKKL1_ENST00000594268.1_Missense_Mutation_p.G65E|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	207					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCAAGGGGACCCACAAG	0.667000													27	32					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923405	159923405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:159923405C>T	ENST00000368093.3	-	2	201	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SLAMF9_ENST00000368092.3_Missense_Mutation_p.E29K	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	29						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAACCACTTCCTCGGATCCA	0.532000													22	94					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546683	9546683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:9546683C>T	ENST00000378429.3	-	6	1885	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PAK7_ENST00000378423.1_Missense_Mutation_p.E447K|PAK7_ENST00000353224.5_Missense_Mutation_p.E447K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	447	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCCAAGTATTCCCTGGGGTCT	0.582000													48	94					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34512373	34512373	+	Silent	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:34512373G>C	ENST00000242317.4	+	15	1611	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	480					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGCTGAAGGTGGAAGGCAGCA	0.607000									Kartagener syndrome				22	60					0	0	1	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107294	27107294	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:27107294C>T	ENST00000354348.2	+	1	219	c.207C>T	c.(205-207)gaC>gaT	p.D69D	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						TGATCCGGGACGCCGTGACCT	0.657000			T	BCL6	NHL								42	90					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75681480	75681480	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:75681480C>T	ENST00000370855.5	-	19	1800	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	SLC44A5_ENST00000370859.3_Missense_Mutation_p.E563K|SLC44A5_ENST00000535611.1_Missense_Mutation_p.E433K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	563						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATTTTCCAAACACCAG	0.338000													8	31					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049306	169049306	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:169049306C>T	ENST00000359299.3	+	2	276	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	30							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GAGGAGCACTCCAAGGATTTG	0.373000													6	39					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831286	176831286	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:176831286C>T	ENST00000253496.3	-	9	977	c.929G>A	c.(928-930)aGg>aAg	p.R310K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	310	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATGAAGCCTAGGGGACAC	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106500199	106500199	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:106500199G>A	ENST00000261402.2	-	2	1724	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	115	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAATACTGATGATATGAGGAT	0.368000													7	30					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823258	97823258	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:97823258G>C	ENST00000297293.5	+	11	3774	c.3481G>C	c.(3481-3483)Gat>Cat	p.D1161H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1161					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGCCAGCCAGATGAAAGTTG	0.587000													18	90					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900832	102900832	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:102900832C>T	ENST00000359520.7	+	9	1904	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TECPR2_ENST00000558678.1_Silent_p.L560L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	560							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCTGATTCTCTGGCTGAGGA	0.512000													29	42					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:11907408C>T	ENST00000376480.3	-	2	310	c.212G>A	c.(211-213)gGg>gAg	p.G71E	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	71					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602000													16	58					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071199	70071199	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:70071199T>G	ENST00000370598.1	+	29	4855	c.4034T>G	c.(4033-4035)gTa>gGa	p.V1345G	BAI3_ENST00000238918.8_Missense_Mutation_p.V551G|BAI3_ENST00000546190.1_Missense_Mutation_p.V309G	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1345					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CACTACAAAGTAAACCCTGAA	0.408000													58	34					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151927113	151927113	+	Splice_Site	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:151927113C>T	ENST00000355193.2	-	18	3090		c.e18-1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C									p.?(2)									CACACATATCCTGAAGTTAAG	0.353000													12	282					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505553	157505553	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:157505553C>T	ENST00000346085.5	+	13	3535	c.3534C>T	c.(3532-3534)ctC>ctT	p.L1178L	ARID1B_ENST00000367148.1_Silent_p.L1218L|ARID1B_ENST00000350026.5_Silent_p.L1165L|ARID1B_ENST00000275248.4_Silent_p.L1160L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1165					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCAAGCTCCAGCCGCCAT	0.612000													16	39					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090361	32090361	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:32090361C>T	ENST00000438447.1	+	20	7195	c.6807C>T	c.(6805-6807)ccC>ccT	p.P2269P	PDZD2_ENST00000282493.3_Silent_p.P2269P			O15018	PDZD2_HUMAN	PDZ domain containing 2	2269					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGGTCTTCCCAGCCTGGCTA	0.572000													81	138					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090360	32090360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:32090360C>T	ENST00000438447.1	+	20	7194	c.6806C>T	c.(6805-6807)cCc>cTc	p.P2269L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P2269L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2269					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGTGGTCTTCCCAGCCTGGCT	0.572000													82	138					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108530	65108530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:65108530C>T	ENST00000528416.1	+	3	420	c.287C>T	c.(286-288)cCa>cTa	p.P96L	DPF2_ENST00000252268.4_Missense_Mutation_p.P96L|DPF2_ENST00000415073.2_Missense_Mutation_p.P96L|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	96					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTTTCCTTCCCATCTATTAAG	0.582000													10	31					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122399997	122399997	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:122399997G>A	ENST00000288912.4	+	15	3275	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	WDR66_ENST00000397454.2_Silent_p.R807R|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	807							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CACTCACCAGGGAACTCTTCC	0.517000													21	87					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073097	15073097	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:15073097A>G	ENST00000598504.1	-	8	2011	c.652T>C	c.(652-654)Tct>Cct	p.S218P	SLC1A6_ENST00000600144.1_Missense_Mutation_p.S218P|SLC1A6_ENST00000544886.2_Missense_Mutation_p.S218P|SLC1A6_ENST00000430939.2_Missense_Mutation_p.S154P|SLC1A6_ENST00000221742.3_Missense_Mutation_p.S218P	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	218					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCGGCTCAGACCCGTTCTCT	0.557000													26	114					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	25014063	25014063	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:25014063C>T	ENST00000379068.3	+	37	4446	c.4403C>T	c.(4402-4404)tCc>tTc	p.S1468F	POLA1_ENST00000379059.3_Missense_Mutation_p.S1462F			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1462					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GCCGTGAAATCCTAAGGGAAT	0.498000													14	5					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585319	7585319	+	Silent	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:7585319T>C	ENST00000379802.3	+	24	8165	c.7824T>C	c.(7822-7824)tcT>tcC	p.S2608S	DSP_ENST00000418664.2_Silent_p.S2009S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2608	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAGCAGCTCTTTTTCAGACA	0.463000													93	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582760	179582760	+	Missense_Mutation	SNP	T	T	C	rs72648984		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179582760T>C	ENST00000589042.1	-	86	25197	c.24973A>G	c.(24973-24975)Aaa>Gaa	p.K8325E	TTN_ENST00000342992.6_Missense_Mutation_p.K7081E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K8008E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8008							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)			TGATCCACTTTGTTGATTACT	0.403000													45	163					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427918	75427918	+	Missense_Mutation	SNP	G	G	A	rs149119749	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:75427918G>A	ENST00000502798.2	+	2	785	c.343G>A	c.(343-345)Gat>Aat	p.D115N	SV2C_ENST00000322285.7_Missense_Mutation_p.D115N	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	115					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D115H(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCCCAAGGGCGATGAGTACAA	0.537000													12	35					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766002	19766002	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:19766002G>A	ENST00000357324.6	-	12	1607	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	ATP13A1_ENST00000291503.5_Silent_p.V409V|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	527					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCACACCTCGACCTTGCCAG	0.642000													15	55					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26233279	26233279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:26233279C>T	ENST00000354667.4	-	9	961	c.793G>A	c.(793-795)Gga>Aga	p.G265R	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G253R	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	265	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCTCTTCCTCCTCCATAA	0.443000			T	ETV1	prostate								50	89					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47364118	47364118	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:47364118G>A	ENST00000285039.7	-	37	5206	c.4907C>T	c.(4906-4908)aCc>aTc	p.T1636I	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.T206I|MYO5B_ENST00000324581.6_Missense_Mutation_p.T751I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1636	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCGGTAGCCGGTGGGCTTCAC	0.483000													56	42					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109473	228109473	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:228109473G>A	ENST00000272164.5	-	4	854	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	282					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CGGGGCAGCGGGTCGCTGCCA	0.711000													49	29					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16630476	16630476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:16630476C>T	ENST00000546361.2	-	16	2664	c.2513G>A	c.(2512-2514)aGg>aAg	p.R838K	CHERP_ENST00000198939.6_Missense_Mutation_p.R849K|C19orf44_ENST00000221671.3_Intron|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	838					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTCTCCGAGCCTTGAGTCAGG	0.532000													39	155					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851970	46851970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:46851970C>T	ENST00000283296.7	-	5	655	c.367G>A	c.(367-369)Gag>Aag	p.E123K	GPR116_ENST00000362015.4_Missense_Mutation_p.E123K|GPR116_ENST00000265417.7_Missense_Mutation_p.E123K|GPR116_ENST00000456426.2_Missense_Mutation_p.E123K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAACCTGTCTCGCAGGAGCAC	0.488000													18	56					0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110372897	110372897	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:110372897T>A	ENST00000356454.3	+	1	987	c.831T>A	c.(829-831)gaT>gaA	p.D277E		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	277																	CTGCCTCCGATGGCAAGTGGG	0.687000													11	25					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47364117	47364117	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:47364117G>A	ENST00000285039.7	-	37	5207	c.4908C>T	c.(4906-4908)acC>acT	p.T1636T	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.T206T|MYO5B_ENST00000324581.6_Silent_p.T751T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1636	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCGGTAGCCGGTGGGCTTCA	0.488000													55	42					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262510	25262510	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:25262510C>T	ENST00000218548.6	+	4	615	c.282C>T	c.(280-282)tcC>tcT	p.S94S	ATP12A_ENST00000381946.3_Silent_p.S94S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	94					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGCCCAACTCCCTCACCCCTC	0.577000													166	185					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108282084	108282084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:108282084C>T	ENST00000295746.8	-	13	1599	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.R349H	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	508						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAATCAAACGTGGGTCCTA	0.358000													86	156					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466576	131466576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:131466576C>T	ENST00000261654.5	+	5	1017	c.458C>T	c.(457-459)tCc>tTc	p.S153F	GPR133_ENST00000535015.1_Missense_Mutation_p.S185F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	153					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGGACAATTCCATGACATGG	0.592000													15	73					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													7	72					0.248553	0.248553	1	1	0
MMP10	4319	broad.mit.edu	37	11	102650393	102650393	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:102650393G>A	ENST00000279441.4	-	2	225	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	63					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GCATTCCTTGGATTTTTTTAA	0.428000													10	18					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088848	113088848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:113088848C>T	ENST00000409871.1	+	12	2754	c.2353C>T	c.(2353-2355)Ccc>Tcc	p.P785S	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P785S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	785							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGCGTGGGATCCCAGGAAATT	0.473000													25	79					0	0	1	0	0
MIR194-2	406970	broad.mit.edu	37	11	64658877	64658877	+	RNA	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:64658877C>T	ENST00000384864.1	-	0	34					NR_029829.1																						GTGGGCACTTCCACATGGAGT	0.647000													5	10					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738920	33738920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:33738920G>A	ENST00000394562.1	-	6	1697	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.P392S|SLFN12_ENST00000304905.5_Missense_Mutation_p.P392S			Q8IYM2	SLN12_HUMAN	schlafen family member 12	392							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTTTTCTGGAGTATACGTT	0.358000													24	70					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175844	55175844	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:55175844T>C	ENST00000391736.1	+	6	878	c.563T>C	c.(562-564)gTg>gCg	p.V188A	LILRB4_ENST00000430952.2_Missense_Mutation_p.V188A|LILRB4_ENST00000391733.3_Missense_Mutation_p.V188A|LILRB4_ENST00000391734.3_Missense_Mutation_p.V188A|LILRB4_ENST00000270452.2_Missense_Mutation_p.V188A	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	188	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCTCAGTGCACGGGGGG	0.602000													34	135					0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629450	113629450	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:113629450C>G	ENST00000548278.1	+	4	1330	c.638C>G	c.(637-639)cCa>cGa	p.P213R	C12orf52_ENST00000552495.1_Missense_Mutation_p.P237R|C12orf52_ENST00000549621.1_Missense_Mutation_p.P213R|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	213	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ACTGGTCATCCAGCCACCAGT	0.607000													19	60					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82924107	82924107	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:82924107T>A	ENST00000526731.1	+	6	1095	c.673T>A	c.(673-675)Ttc>Atc	p.F225I	ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000260047.6_Intron|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000533342.1_Intron			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TAAGAAGTTCTTCCGGCACCA	0.498000													28	43					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000450	121000450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121000450C>T	ENST00000392793.1	+	10	2742	c.2471C>T	c.(2470-2472)aCt>aTt	p.T824I	TECTA_ENST00000264037.2_Missense_Mutation_p.T824I			O75443	TECTA_HUMAN	tectorin alpha	824	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCGTGGTGACTGTCCAGTAC	0.488000													38	117					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39882119	39882119	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39882119G>A	ENST00000393939.2	-	9	1332	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	HAP1_ENST00000347901.4_Silent_p.S466S|HAP1_ENST00000341193.5_Silent_p.S449S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.S518S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	466	Glu-rich.|HAP1 N-terminal.		M -> T (may influence the age-at-onset of Huntington disease; decreases binding to mutated HTT; influences HTT degradation).		brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCTTAGGCTGGATGTGTCCC	0.557000													21	82					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934991	70934991	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:70934991G>A	ENST00000393567.2	-	53	9114	c.8964C>T	c.(8962-8964)acC>acT	p.T2988T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2988										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGGGGGATGGTCCCCTGCA	0.562000													29	190					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138860786	138860786	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:138860786G>A	ENST00000330794.4	-	4	702	c.369C>T	c.(367-369)ctC>ctT	p.L123L	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	123					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAGGCCCAGGAGGGCAAGCA	0.627000													26	70					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:115335708G>A	ENST00000537906.1	+	5	404	c.242G>A	c.(241-243)gGa>gAa	p.G81E	HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G|HABP2_ENST00000541666.1_Silent_p.G92G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCGTCCATGGGAGCACCTTCA	0.527000													52	128					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398251	57398251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:57398251C>T	ENST00000300101.2	-	2	536	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGGCAGGTTCTGCCGAAGGA	0.562000													28	132					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155026807	155026807	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:155026807C>T	ENST00000356955.2	+	6	538	c.437C>T	c.(436-438)aCc>aTc	p.T146I	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.T146I|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.T146I|ADAM15_ENST00000360674.4_Missense_Mutation_p.T146I|ADAM15_ENST00000531455.1_Missense_Mutation_p.T156I|ADAM15_ENST00000359280.4_Missense_Mutation_p.T146I|ADAM15_ENST00000447332.3_Missense_Mutation_p.T130I|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.T146I|ADAM15_ENST00000271836.6_Missense_Mutation_p.T146I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	146					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGGTCCTGACCCCAGAGAGA	0.522000													23	127					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:71318539C>T	ENST00000370932.2	-	3	1311	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PTGER3_ENST00000460330.1_Missense_Mutation_p.E370K|PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	361					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000													42	146					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121769004	121769004	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:121769004C>T	ENST00000282561.3	+	2	1168	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	337					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTTTTGATTTCCCCGATGATA	0.483000													28	90					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331787	107331787	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:107331787G>T	ENST00000335040.1	+	1	339	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CGGAGTGCATGATCTTAGGCA	0.502000													23	92					1.96895e-08	2.00789e-08	1	1	0
CDH16	1014	broad.mit.edu	37	16	66951562	66951562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:66951562G>A	ENST00000299752.4	-	3	305	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.P38S|CDH16_ENST00000565796.1_Missense_Mutation_p.P38S|CDH16_ENST00000568632.1_Missense_Mutation_p.P38S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	38	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTATAAAGGGAAATTTCCA	0.582000													8	11					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001068	14001068	+	Silent	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:14001068A>G	ENST00000454313.1	-	6	659	c.601T>C	c.(601-603)Ttg>Ctg	p.L201L	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.L201L|C19orf57_ENST00000346736.2_Silent_p.L201L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	201					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGGCGGACAACCCCGTCCCC	0.642000													43	117					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088198	92088198	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:92088198A>T	ENST00000256343.3	-	19	2170	c.2014T>A	c.(2014-2016)Tta>Ata	p.L672I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	672					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTATTATCTAAAATGCTTGTG	0.408000													24	30					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014801	127014801	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:127014801C>G	ENST00000393313.1	-	5	1180	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ZNF800_ENST00000393312.1_Missense_Mutation_p.E197Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E197Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTAACAATCTCAACAGGAGGG	0.443000													18	155					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900207	125900207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:125900207C>T	ENST00000299308.3	+	3	1083	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	359						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGGCCATCGCCCGGACACGCA	0.592000													6	71					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231671	7231671	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:7231671C>T	ENST00000383467.2	+	1	549	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	179										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CGCGCACATCCCCATGTGTGT	0.557000													77	46					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375064	118375064	+	Silent	SNP	C	C	T	rs142499035	byFrequency	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118375064C>T	ENST00000534358.1	+	27	8480	c.8457C>T	c.(8455-8457)tcC>tcT	p.S2819S	KMT2A_ENST00000389506.5_Silent_p.S2816S|KMT2A_ENST00000354520.4_Silent_p.S2778S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTACCCCCTCCGACAAAAATT	0.448000													33	90					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166896038	166896038	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:166896038G>A	ENST00000423058.2	-	14	2501	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F817F|SCN1A_ENST00000409050.1_Silent_p.F800F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.F828F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	828						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCCTTCTTGGAAATAATAGT	0.373000													18	24					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120718393	120718393	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:120718393C>T	ENST00000263708.2	+	23	2915	c.2144C>T	c.(2143-2145)cCt>cTt	p.P715L	PTPN4_ENST00000544261.1_Missense_Mutation_p.P348L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	715	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATGGAAATTCCTTCTTCCAGC	0.358000													30	41					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195595288	195595288	+	Silent	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:195595288C>A	ENST00000333602.6	-	12	2453	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	TNK2_ENST00000392400.1_Silent_p.L612L|TNK2_ENST00000381916.2_Silent_p.L690L|TNK2_ENST00000428187.1_Silent_p.L644L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	612	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGCCGGGGCAGTGCCCGCG	0.746000													15	49					4.7546e-09	4.87006e-09	1	1	0
MEFV	4210	broad.mit.edu	37	16	3306552	3306552	+	Silent	SNP	G	G	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3306552G>T	ENST00000219596.1	-	1	75	c.36C>A	c.(34-36)acC>acA	p.T12T	MEFV_ENST00000536379.1_Silent_p.T12T|MEFV_ENST00000339854.4_Silent_p.T12T|MEFV_ENST00000541159.1_Silent_p.T12T	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	12	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTCCTCCAGGGTGGACAGCA	0.572000													65	44					3.28615e-30	3.51331e-30	1	1	0
C9orf43	257169	broad.mit.edu	37	9	116187664	116187664	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:116187664G>A	ENST00000288462.4	+	10	1352	c.906G>A	c.(904-906)caG>caA	p.Q302Q	C9orf43_ENST00000374165.1_Silent_p.Q302Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	302	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcagcaacagAAGA	0.547000													4	90					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:198950624C>T	ENST00000428675.1	+	2	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R697C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	795	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398000													69	89					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798510	140798510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140798510C>T	ENST00000398594.2	+	1	1084	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTCCCCTCCAGGAGTGGT	0.443000													28	23					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54224806	54224806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:54224806G>A	ENST00000354646.2	-	24	5792	c.5354C>T	c.(5353-5355)cCa>cTa	p.P1785L	WNK3_ENST00000375169.3_Missense_Mutation_p.P1728L|WNK3_ENST00000375159.2_Missense_Mutation_p.P1785L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1728					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGAAGTTGGAAATGCCTG	0.443000													13	17					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026099	56026099	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:56026099G>A	ENST00000288221.6	-	11	2496	c.2241C>T	c.(2239-2241)atC>atT	p.I747I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	747						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGTTCTGCGATCTTCTTGT	0.498000													31	123					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105855852	105855852	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:105855852T>A	ENST00000372548.4	+	1	651	c.542T>A	c.(541-543)tTa>tAa	p.L181*	CXorf57_ENST00000372544.2_Nonsense_Mutation_p.L181*	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	181										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGGCCTTTAAGAGGCGGG	0.468000													35	84					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567375	10567375	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:10567375C>T	ENST00000396560.2	+	9	1693	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P489L|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P489L|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P489L|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P33L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGCAATTCTCCCAATGCTGAA	0.284000													17	67					0	0	1	0	0
RPP25	54913	broad.mit.edu	37	15	75248413	75248413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:75248413C>T	ENST00000322177.5	-	1	1392	c.512G>A	c.(511-513)aGg>aAg	p.R171K	RPP25_ENST00000499788.2_Missense_Mutation_p.R171K	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	171					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						CCCTAGGCTCCTCTTGGACGC	0.677000													4	14					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292675	6292675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:6292675C>T	ENST00000525462.1	+	4	1456	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	CCKBR_ENST00000334619.2_Missense_Mutation_p.R416C|CCKBR_ENST00000532715.1_Missense_Mutation_p.R332C			P32239	GASR_HUMAN	cholecystokinin B receptor	416					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCCACGAGCTCGCCCCAGGGC	0.652000													25	54					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132490671	132490671	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:132490671C>T	ENST00000333577.4	+	15	3167	c.3058C>T	c.(3058-3060)Cca>Tca	p.P1020S	EP400_ENST00000332482.4_Missense_Mutation_p.P947S|EP400_ENST00000330386.6_Missense_Mutation_p.P984S|EP400_ENST00000389561.2_Missense_Mutation_p.P984S|EP400_ENST00000389562.2_Missense_Mutation_p.P983S			Q96L91	EP400_HUMAN	E1A binding protein p400	1020	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGATGACTGTCCAGGCGACAG	0.428000													6	53					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307352	52307352	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:52307352C>T	ENST00000550683.1	+	3	466	c.365C>T	c.(364-366)cCt>cTt	p.P122L	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P108L	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	108					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCCACCCAACCTCCTTCGGAG	0.677000													17	14					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184767251	184767251	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:184767251T>G	ENST00000367511.3	-	13	1821	c.1628A>C	c.(1627-1629)gAg>gCg	p.E543A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	543					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTAAAATCTCCTCATAGAC	0.418000													19	22					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115769369	115769369	+	Splice_Site	SNP	A	A	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:115769369A>C	ENST00000264363.2	-	9	2619		c.e9+1			NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTTTTCTTACCAGTCTATT	0.343000													9	51					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110573	140110573	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:140110573C>T	ENST00000371521.4	+	13	1692	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	NDOR1_ENST00000344894.5_Missense_Mutation_p.L528F|NDOR1_ENST00000427047.2_Missense_Mutation_p.L494F|NDOR1_ENST00000458322.2_Missense_Mutation_p.L521F	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	528					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCACCGGCTCCGGGAGCT	0.647000													23	66					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38953653	38953653	+	Silent	SNP	A	A	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:38953653A>G	ENST00000357387.3	-	28	2730	c.2700T>C	c.(2698-2700)aaT>aaC	p.N900N	RICTOR_ENST00000296782.5_Silent_p.N900N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	900					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTAATAATATTCTGGAGAA	0.279000													35	125					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038834	75038834	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:75038834C>A	ENST00000326665.5	-	14	2778	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	854	Glu-rich.							p.G854W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGACCCCCCTTCACCCAGC	0.527000													40	116					2.87052e-16	3.02023e-16	1	1	0
CAMKMT	79823	broad.mit.edu	37	2	44999183	44999183	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:44999183G>A	ENST00000378494.3	+	11	947	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	301						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						AGTTGAAAAAGGAAAACCCGG	0.343000													10	58					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42189112	42189112	+	Splice_Site	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:42189112C>T	ENST00000379310.3	-	38	4788	c.4720_splice	c.e38+1	p.G1574_splice		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGCTACCAACCTGTTCCGCCA	0.582000													24	17					0	0	1	0	0
CHST7	56548	broad.mit.edu	37	X	46434386	46434386	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:46434386C>T	ENST00000276055.3	+	1	1168	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	340					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						ccgATTTCTTCCTGACCGGTG	0.756000													6	5					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276334	153276334	+	Splice_Site	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:153276334C>A	ENST00000290722.1	-	4	580	c.529_splice	c.e4+1	p.K176_splice		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	176					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGTCTTACCCTTCCTGGGCA	0.532000													111	49					1.81142e-54	1.94111e-54	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186672566	186672566	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:186672566T>A	ENST00000343098.5	+	17	18800	c.18800T>A	c.(18799-18801)aTa>aAa	p.I6267K	FSIP2_ENST00000424728.1_Missense_Mutation_p.I6178K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTTATAACATAATAGAAGAA	0.308000													13	40					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358493	70358493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:70358493G>A	ENST00000558939.1	-	7	1814	c.437C>T	c.(436-438)cCc>cTc	p.P146L	TLE3_ENST00000559048.1_Missense_Mutation_p.P151L|TLE3_ENST00000558379.1_Missense_Mutation_p.P146L|TLE3_ENST00000539550.1_Missense_Mutation_p.P90L|TLE3_ENST00000317509.8_Missense_Mutation_p.P146L|TLE3_ENST00000560939.1_Missense_Mutation_p.P151L|TLE3_ENST00000451782.2_Missense_Mutation_p.P146L|TLE3_ENST00000440567.3_Missense_Mutation_p.P139L|TLE3_ENST00000557997.1_Missense_Mutation_p.P146L|TLE3_ENST00000560589.1_Missense_Mutation_p.P90L|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.P156L|TLE3_ENST00000557907.1_Missense_Mutation_p.P146L|TLE3_ENST00000442299.2_Missense_Mutation_p.P146L|TLE3_ENST00000558201.1_Missense_Mutation_p.P152L			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	146	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGACGGGTGGGGTGGCAACTG	0.677000													8	25					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350637	74350637	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:74350637C>T	ENST00000263665.6	-	15	2034	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	669	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATATTCCACCCATGGGT	0.438000													35	87					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897092	23897092	+	Silent	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23897092G>A	ENST00000355349.3	-	16	1752	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	530	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGATGGACATGATGCCCATGG	0.537000													16	55					0	0	1	0	0
RANGRF	29098	broad.mit.edu	37	17	8192610	8192610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:8192610G>A	ENST00000439238.3	+	3	340	c.229G>A	c.(229-231)Gct>Act	p.A77T	SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000580434.1_Missense_Mutation_p.A77T|RANGRF_ENST00000226105.6_Missense_Mutation_p.A77T|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_Missense_Mutation_p.A77T			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	77					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CGTGCAGGGGGCTAGGGCTGT	0.597000													54	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGGCTTTCGATGTCTCTG	0.493000													49	225					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:99723868C>T	ENST00000345514.2	-	2	633	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.E123K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	517						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL								33	176					0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31583327	31583327	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:31583327C>A	ENST00000376059.3	+	2	201	c.55C>A	c.(55-57)Cag>Aag	p.Q19K		NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	19					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						GCTGAAGGCCCAGCAGGAAGA	0.577000													17	40					3.52763e-06	3.57385e-06	1	1	0
MFSD2A	84879	broad.mit.edu	37	1	40434031	40434031	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:40434031G>A	ENST00000372809.5	+	12	1416	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	MFSD2A_ENST00000372811.5_Missense_Mutation_p.D412N|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.D256N	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	425					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCATTGACGACTTCCATCT	0.537000													24	48					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862499	14862499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:14862499G>A	ENST00000285046.5	+	1	2031	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	FGD5_ENST00000543601.1_Missense_Mutation_p.D400N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	641					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GATCGAGAGCGACTCCCCGGA	0.512000													16	55					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139609	178139609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:178139609G>A	ENST00000335815.2	-	5	1467	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	424					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTATTAAGTCGTGAAATAGAA	0.383000													15	59					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189673	38189673	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:38189673T>A	ENST00000355202.4	-	5	1954	c.1359A>T	c.(1357-1359)gaA>gaT	p.E453D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E452D|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACTTCCCACATTCTTTACATT	0.418000													66	57					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901313	40901313	+	Silent	SNP	C	C	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:40901313C>T	ENST00000324001.7	-	7	3216	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	982					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGGCCTGCCTCCCCAGCCC	0.647000													38	103					0	0	1	0	0
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													3	5	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													7	197	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61846476	61846484	+	In_Frame_Del	DEL	CCTTTGTAT	CCTTTGTAT	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:61846476_61846484delCCTTTGTAT	ENST00000280772.1	-	30	3890_3898	c.3699_3707delATACAAAGG	c.(3697-3708)ggg>gg	p.GYKG1233del	ANK3_ENST00000503366.1_In_Frame_Del_p.GYKG1234del|ANK3_ENST00000355288.2_In_Frame_Del_p.GYKG367del|ANK3_ENST00000373827.2_In_Frame_Del_p.GYKG1227del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1233					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAGTGTCCCCTTTGTATCCATTGGATA	0.450													22	52	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919262	48919262	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:48919262delA	ENST00000267163.4	+	4	565	c.427delA	c.(427-429)aafs	p.K143fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	143					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACCAGTACCAAAGTTGATAA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	28	---	---	---	---					
BCAS1	8537	broad.mit.edu	37	20	52557949	52557950	+	RNA	INS	-	-	TT	rs72548465	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:52557949_52557950insTT	ENST00000450473.1	+	0	550																											gtgtgtgtgtgtgtgtgtgcgc	0.500													3	4	---	---	---	---					
