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
DNAH11	8701	broad.mit.edu	37	7	21751477	21751477	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:21751477C>A	ENST00000328843.6	+	43	7034	c.7003C>A	c.(7003-7005)Ccg>Acg	p.P2335T	DNAH11_ENST00000409508.3_Splice_Site_p.P2328T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2335	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCTGGAATCCGTGAGTATT	0.393000									Kartagener syndrome				19	17					3.32936e-07	3.40334e-07	1	1	0
NLN	57486	broad.mit.edu	37	5	65118647	65118647	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:65118647G>A	ENST00000380985.5	+	13	2197	c.2019G>A	c.(2017-2019)ggG>ggA	p.G673G	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.G569G	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	673					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAAACCTGGGGGATCTCTGG	0.408000													28	67					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:40556892C>T	ENST00000357037.5	-	2	1405	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	329					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677000													24	66					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35451871	35451871	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35451871T>C	ENST00000404801.1	-	2	447	c.61A>G	c.(61-63)Att>Gtt	p.I21V		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGTAAATGGTCACGTCC	0.547000													76	102					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157739894	157739894	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:157739894G>A	ENST00000361516.3	-	4	405	c.357C>T	c.(355-357)atC>atT	p.I119I	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Silent_p.I119I	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	119	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACCCCCTTCGATGGGCTGGA	0.527000													40	41					0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:13588578G>A	ENST00000606117.1	+	4	427	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	44	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	p.R44Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCAGATTTTCGAAAGTTTTTT	0.403000													35	32					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47349884	47349884	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:47349884C>G	ENST00000400314.1	+	12	1109	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PCBP3_ENST00000400304.1_Silent_p.L247L|PCBP3_ENST00000449640.1_Silent_p.L257L|PCBP3_ENST00000400309.1_Silent_p.L256L|PCBP3_ENST00000400310.1_Silent_p.L257L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400308.1_Silent_p.L231L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	257					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTCCTCCCCTCGGACAGACCA	0.552000													60	105					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45783636	45783636	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:45783636G>A	ENST00000300843.4	+	11	1308	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	MARK4_ENST00000262891.4_Silent_p.V337V	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	337	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCAGAGGTGATGGTGGGTA	0.507000													115	148					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837636	79837636	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837636C>G	ENST00000282226.4	+	6	971	c.816C>G	c.(814-816)atC>atG	p.I272M	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	272										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTGGAATCAAAGTTAATC	0.299000													12	9					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265917	89265917	+	RNA	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:89265917G>C	ENST00000464162.1	-	0	243																											ACTGGATGCAGCATAGATCAG	0.507000													114	136					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11911614	11911614	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:11911614G>A	ENST00000256720.2	+	4	498	c.405G>A	c.(403-405)acG>acA	p.T135T	LPIN1_ENST00000396099.1_Silent_p.T141T|LPIN1_ENST00000449576.2_Silent_p.T184T|LPIN1_ENST00000396098.1_Silent_p.T141T|LPIN1_ENST00000425416.2_Silent_p.T141T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	135					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCCAGCACGCCAGCCCAAG	0.567000													12	61					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388173	56388173	+	Missense_Mutation	SNP	C	C	T	rs140370063	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:56388173C>T	ENST00000423270.1	-	9	1752	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	RFX7_ENST00000559447.2_Missense_Mutation_p.E488K|RFX7_ENST00000422057.1_Missense_Mutation_p.E488K|RFX7_ENST00000317318.6_Missense_Mutation_p.E585K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	488					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATGACACCTTCATTTGAAGGT	0.458000													21	14					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185684329	185684329	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:185684329C>T	ENST00000515030.1	-	16	1838	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	ACSL1_ENST00000507295.1_Missense_Mutation_p.E471K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E334K|ACSL1_ENST00000513317.1_Missense_Mutation_p.E505K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E505K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E334K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E505K			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	505					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTCGCCCTCGCCCTCGGCA	0.478000													8	21					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178063703	178063703	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:178063703G>A	ENST00000448150.3	+	1	840	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RASAL2_ENST00000367649.3_Missense_Mutation_p.D26N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0					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						GCTGGAGTCCGACTCGCCGCT	0.706000													11	6					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35287672	35287672	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:35287672G>A	ENST00000316637.5	+	9	1464	c.1459G>A	c.(1459-1461)Gcg>Acg	p.A487T	DEF6_ENST00000542066.1_Missense_Mutation_p.A232T	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	487	Glu-rich.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CATCGAACGGGCGCAGCAGGA	0.617000													4	5					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													5	143					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398335	10398335	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:10398335C>T	ENST00000226207.5	-	37	5473	c.5379G>A	c.(5377-5379)acG>acA	p.T1793T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTCCTTCACCGTCTGTTCCA	0.557000													119	12					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43623613	43623613	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:43623613G>C	ENST00000355710.3	+	20	3473	c.3241G>C	c.(3241-3243)Gat>Cat	p.D1081H		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1081					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CACGAGAGCTGATGGCACTAA	0.438000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				41	82					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104956	168104956	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:168104956G>A	ENST00000409195.1	+	9	7143	c.7054G>A	c.(7054-7056)Gat>Aat	p.D2352N	XIRP2_ENST00000295237.9_Missense_Mutation_p.D2352N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2130N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2177					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTCCAGTAGATGAGAAATC	0.473000													47	131					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56321382C>G	ENST00000262290.4	+	3	420	c.104C>G	c.(103-105)tCc>tGc	p.S35C	LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	35					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGCCATCTCCGATACTGTG	0.542000													11	32					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916142	126916142	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:126916142C>T	ENST00000398112.1	+	2	854	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGCTGCAGTTCAGAGCTCCGC	0.652000													40	6					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71949104	71949104	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:71949104G>T	ENST00000298229.2	+	27	3775	c.3571G>T	c.(3571-3573)Ggg>Tgg	p.G1191W	INPPL1_ENST00000541756.1_Missense_Mutation_p.G949W|INPPL1_ENST00000538751.1_Missense_Mutation_p.G949W	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1191					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTGCAGGGCGGGCGGGCCAG	0.657000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	19					0.000586117	0.000592558	1	1	0
VDAC1	7416	broad.mit.edu	37	5	133326826	133326826	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:133326826G>A	ENST00000265333.3	-	4	381	c.137C>T	c.(136-138)tCa>tTa	p.S46L	VDAC1_ENST00000395047.2_Missense_Mutation_p.S46L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.S46L	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	46					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AGTGTTGGCTGAGCCTGAGCT	0.478000													27	84					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	133					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59415362	59415362	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:59415362C>T	ENST00000300146.9	-	15	1842	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	586	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACACATGATCTGTACAAAGT	0.438000													20	30					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837648	79837648	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837648C>T	ENST00000282226.4	+	6	983	c.828C>T	c.(826-828)ctC>ctT	p.L276L	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	276										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAGTTAATCTCTAAGAAGAAG	0.299000													10	9					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50740776	50740776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:50740776G>A	ENST00000355832.5	-	2	313	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Q79*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Q79*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	79					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						GCCTGGATCTGATGTCGGTCG	0.622000								Direct reversal of damage;Nucleotide excision repair (NER)					25	33					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164350	111164350	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:111164350C>T	ENST00000360467.5	+	48	5257	c.4951C>T	c.(4951-4953)Cgc>Tgc	p.R1651C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGACTTCCGCGCCACACC	0.617000													34	74					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118424359	118424359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:118424359C>G	ENST00000369210.3	-	4	428	c.374G>C	c.(373-375)aGa>aCa	p.R125T	C10orf82_ENST00000588184.1_Missense_Mutation_p.R125T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	125										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GACAGTGTATCTCGTGCCACA	0.522000													49	64					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84399296	84399296	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:84399296G>A	ENST00000260505.8	-	9	1419	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	348	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTACCTCCAGAAGCCATGGC	0.373000													67	71					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37768130	37768130	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:37768130G>C	ENST00000297994.3	+	5	543	c.478G>C	c.(478-480)Gac>Cac	p.D160H	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.D82H|TRMT10B_ENST00000537911.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.D65H	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		CAAAAAAGCTGACAGGCCATT	0.413000													77	100					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61712986	61712986	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:61712986A>G	ENST00000423902.2	+	5	2757	c.2278A>G	c.(2278-2280)Act>Gct	p.T760A	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.T760A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	760					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGCGCTACACTGAAGACCT	0.478000													21	21					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128380819	128380819	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:128380819G>A	ENST00000389524.4	+	28	3663	c.3610G>A	c.(3610-3612)Gcc>Acc	p.A1204T	MYO7B_ENST00000409816.2_Missense_Mutation_p.A1204T|MYO7B_ENST00000409090.1_Missense_Mutation_p.A57T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1204T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1204	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTCATCTTGGCCACTGGAGA	0.577000													12	43					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131380380	131380380	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131380380G>T	ENST00000358161.5	+	43	5706	c.5593G>T	c.(5593-5595)Gct>Tct	p.A1865S	SPTAN1_ENST00000372731.4_Missense_Mutation_p.A1860S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1865S			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1860					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGCTGGCAGCTGCCCGGTG	0.612000													43	4					6.04917e-29	6.28841e-29	1	1	0
MXRA8	54587	broad.mit.edu	37	1	1290868	1290868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:1290868G>C	ENST00000477278.2	-	3	824	c.311C>G	c.(310-312)tCg>tGg	p.S104W	MXRA8_ENST00000342753.4_Intron|MXRA8_ENST00000309212.6_Missense_Mutation_p.S113W|MXRA8_ENST00000445648.2_Missense_Mutation_p.S113W	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCGAAGGCCGAGGCCGAGAG	0.796000													9	5					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213484	21213484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:21213484G>A	ENST00000215730.7	+	1	214	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGGGACGCCCGAGACCTCCCC	0.716000													10	28					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928679	49928679	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928679G>A	ENST00000296474.3	-	17	3622	c.3595C>T	c.(3595-3597)Ctg>Ttg	p.L1199L	MST1R_ENST00000344206.4_Silent_p.L1150L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1199	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCTGCCAGGTACTCCATG	0.612000													63	2					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site														p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000													4	25					0.00116845	0.00117483	1	1	0
MKL2	57496	broad.mit.edu	37	16	14339510	14339510	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:14339510A>T	ENST00000571589.1	+	11	1377	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V	MKL2_ENST00000341243.5_Missense_Mutation_p.D391V|MKL2_ENST00000318282.5_Missense_Mutation_p.D402V|MKL2_ENST00000574045.1_Missense_Mutation_p.D402V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	391	SAP.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTGGATGACTTAAAGGTG	0.433000													61	94					0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	846267	846267	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:846267G>A	ENST00000544537.2	+	3	549	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PRTN3_ENST00000234347.5_Missense_Mutation_p.D164N			P24158	PRTN3_HUMAN	proteinase 3	164	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		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)		GGGTGCCCACGACCCCCCAGC	0.677000													8	8					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151141526	151141526	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:151141526G>A	ENST00000368905.4	+	7	769	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	220					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTTGACTCTGATGAGGAGGA	0.423000													52	68					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697193	109697193	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:109697193A>G	ENST00000465301.2	+	3	3594	c.3348A>G	c.(3346-3348)ggA>ggG	p.G1116G	RGAG1_ENST00000540313.1_Silent_p.G1116G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1116										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGCCTCTGGATCAAAGCCCA	0.527000													110	8					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:72368159C>T	ENST00000335666.4	+	4	857	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGGGCCGCCTCGTCCCCAGGC	0.657000													23	22					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74009284	74009284	+	Missense_Mutation	SNP	C	C	G	rs142768884	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:74009284C>G	ENST00000331597.4	-	4	735	c.690G>C	c.(688-690)ttG>ttC	p.L230F	P4HA3_ENST00000427714.2_Missense_Mutation_p.L230F	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	230						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CCAAGTGATCCAAGGCATCTT	0.443000													48	87					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72848451	72848451	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:72848451G>A	ENST00000344575.3	+	1	343	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	38	FZ.				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCTGCGCCGTGCCAGGCGG	0.761000													20	17					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25969114	25969114	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:25969114G>A	ENST00000356865.6	-	6	1145	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	345					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCAGACTTGGGGACATAAAA	0.373000													44	74					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654755	161654755	+	RNA	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:161654755G>A	ENST00000426558.1	-	0	287					NR_002595.1																						ACACGGATTCGGTATGGGACA	0.448000													17	18					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360386	72360386	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:72360386C>T	ENST00000441259.1	-	2	433	c.273G>A	c.(271-273)gcG>gcA	p.A91A	PRF1_ENST00000373209.2_Silent_p.A91A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	91	MACPF.		A -> V (in dbSNP:rs35947132).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGTGAGCGCCAGAGGCA	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				18	16					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379944	131379944	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379944G>C	ENST00000358161.5	+	42	5496	c.5383G>C	c.(5383-5385)Gag>Cag	p.E1795Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1790Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1795Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1790					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGGGCTCAGAGGACTACGG	0.572000													27	6					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	76					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971574	39971574	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:39971574G>A	ENST00000314349.4	+	1	523	c.390G>A	c.(388-390)gcG>gcA	p.A130A	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Silent_p.A27A|TIMM50_ENST00000607714.1_Silent_p.A27A	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	27					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGTTGGCGACGCCGCCCC	0.706000													9	23					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106916969	106916969	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:106916969A>T	ENST00000369701.3	+	10	1783	c.1556A>T	c.(1555-1557)aAc>aTc	p.N519I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	519						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCACTTACAACAAAGGCAGG	0.512000													27	24					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527888	155527888	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:155527888G>A	ENST00000404648.3	-	8	1337	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	FGG_ENST00000336098.3_Silent_p.H366H|FGG_ENST00000405164.1_Silent_p.H374H|FGG_ENST00000407946.1_Silent_p.H374H	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	366	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATGGCCAGCGTGACACTTGT	0.363000													29	36					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	984698	984698	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:984698C>T	ENST00000379370.2	+	25	4431	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1461	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGAGCTGTCCCGGCACTGGCG	0.687000													15	24					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531924	92531924	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:92531924C>T	ENST00000298047.6	+	9	5762	c.5745C>T	c.(5743-5745)ccC>ccT	p.P1915P	FAT3_ENST00000409404.2_Silent_p.P1915P|FAT3_ENST00000525166.1_Silent_p.P1765P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1915	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGAGGTACCCCCTGAACTGA	0.418000										TCGA Ovarian(4;0.039)			25	3					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928719	49928719	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928719G>A	ENST00000296474.3	-	17	3582	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	MST1R_ENST00000344206.4_Silent_p.L1136L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1185	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAAGCTGATGAGGTCCTTCA	0.632000													64	4					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135020668	135020668	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:135020668G>A	ENST00000304613.3	+	20	3628	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.E1205K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1203					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGGGCCTGGAGCCCTGCAC	0.657000													4	8					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	30					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108981	21108981	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:21108981T>C	ENST00000320704.3	-	1	869	c.870A>G	c.(868-870)ccA>ccG	p.P290P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CATAGATGAATGGATTCAACA	0.433000													78	102					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746887	46746887	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:46746887G>A	ENST00000343304.6	-	5	1951	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	556										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGTCAACACGAATAGAGAGG	0.597000													34	66					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272043	22272043	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:22272043C>T	ENST00000594947.1	+	4	1635	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTAACCGGTCTTCAC	0.393000													32	35					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743176	96743176	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:96743176C>G	ENST00000376705.2	+	1	84	c.60C>G	c.(58-60)gtC>gtG	p.V20V		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	20						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCTTCGTGGTCATCATGTACC	0.697000													16	27					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459681	27459681	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:27459681C>G	ENST00000375946.4	+	8	2396	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	MASTL_ENST00000375940.4_Missense_Mutation_p.S598C|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.S598C	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	598	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGAATCCTCTTTTGAAGAA	0.368000													10	23					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753602	13753602	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:13753602A>C	ENST00000265104.4	-	63	10716	c.10612T>G	c.(10612-10614)Ttt>Gtt	p.F3538V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3538					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)					AGATCACGAAACTCTTGGTTA	0.383000									Kartagener syndrome				33	95					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237756779	237756779	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:237756779T>A	ENST00000366574.2	+	33	4596	c.4279T>A	c.(4279-4281)Tat>Aat	p.Y1427N	RYR2_ENST00000360064.6_Missense_Mutation_p.Y1425N|RYR2_ENST00000542537.1_Missense_Mutation_p.Y1411N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1427	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCACAGTACTATTACTCAGT	0.388000													12	46					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379988	131379988	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379988G>T	ENST00000358161.5	+	42	5540	c.5427G>T	c.(5425-5427)aaG>aaT	p.K1809N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1804N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1809N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1804					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCTGAGGAAGAAGCACAAGC	0.597000													39	8					3.76604e-16	3.89298e-16	1	1	0
MTTP	4547	broad.mit.edu	37	4	100532349	100532349	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:100532349C>T	ENST00000457717.1	+	14	2075	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	MTTP_ENST00000265517.5_Missense_Mutation_p.R607C|MTTP_ENST00000511045.1_Missense_Mutation_p.R634C|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	607	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAATTATGACCGTTTCTCCAG	0.423000													26	46					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:158585162C>T	ENST00000368147.4	-	48	6812	c.6632G>A	c.(6631-6633)cGt>cAt	p.R2211H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTTAGTTGACGCTTCATCGC	0.483000													104	85					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496330	76496330	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:76496330C>T	ENST00000388942.3	+	11	1546	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	424						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGAGCCCGGCCCTTCTCCCCC	0.701000													28	38					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102442494	102442494	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:102442494C>T	ENST00000399004.2	-	3	353	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	GIN1_ENST00000508629.1_Missense_Mutation_p.G87S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	87					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGGATATACCATGATGAGCT	0.363000													16	8					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077079	144077079	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:144077079G>A	ENST00000056217.5	+	15	4898	c.4724G>A	c.(4723-4725)cGt>cAt	p.R1575H	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.R497H	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1575					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGAGGTCCGTGCACAGAAC	0.572000													88	106					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:139606405C>T	ENST00000303045.6	-	63	4916	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A	COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602000										HNSCC(7;0.00092)			40	59					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573435	19573435	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:19573435C>T	ENST00000341998.2	-	6	1322	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	SLC24A2_ENST00000286344.3_Missense_Mutation_p.D404N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	421					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTTCAACATCTGTGCTGGTG	0.433000													48	16					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68404192	68404192	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:68404192G>C	ENST00000396591.3	+	5	986	c.376G>C	c.(376-378)Gag>Cag	p.E126Q		NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	126					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGCTATTTGAGCACAGTGA	0.333000													15	14					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90421882	90421882	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:90421882G>A	ENST00000369393.3	-	49	7639	c.7524C>T	c.(7522-7524)taC>taT	p.Y2508Y	MDN1_ENST00000428876.1_Silent_p.Y2508Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2508					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCGATCCAGTAAGTATTCA	0.408000													94	115					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45247383	45247383	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247383A>C	ENST00000066544.3	-	4	370	c.277T>G	c.(277-279)Tct>Gct	p.S93A	CDC27_ENST00000446365.2_Missense_Mutation_p.S32A|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S93A|CDC27_ENST00000527547.1_Missense_Mutation_p.S93A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTCCACCAGATAAGATTTGT	0.313000													8	142					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963097	57963097	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:57963097G>A	ENST00000455537.2	+	10	1152	c.878G>A	c.(877-879)gGg>gAg	p.G293E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G204E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	293	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACTCTCTCGGGGGAAACTGC	0.478000													22	71					0	0	1	0	0
TRAV39	28642	broad.mit.edu	37	14	22771978	22771978	+	RNA	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:22771978G>C	ENST00000390466.1	+	0	40																											GCTTCAACTAGACCGTGAGCT	0.448000													20	14					0	0	1	0	0
DESI2	51029	broad.mit.edu	37	1	244868861	244868861	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:244868861C>G	ENST00000302550.11	+	5	734	c.355C>G	c.(355-357)Ctt>Gtt	p.L119V	DESI2_ENST00000263831.7_Missense_Mutation_p.L86V	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	119	PPPDE peptidase.							p.L119I(1)									TCTGTAGATTCTTTGTGGGAA	0.522000													55	69					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817949	55817949	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:55817949G>C	ENST00000313833.4	+	2	1086	c.841G>C	c.(841-843)Gac>Cac	p.D281H	FBXO34_ENST00000440021.1_Missense_Mutation_p.D281H	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	281										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCGTGTCCTTGACATGGTAGC	0.552000													88	81					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:43430101G>A	ENST00000446844.3	-	0	1156				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448000													5	356					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49927946	49927946	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49927946G>A	ENST00000296474.3	-	18	3809	c.3782C>T	c.(3781-3783)aCc>aTc	p.T1261I	MST1R_ENST00000344206.4_Missense_Mutation_p.T1212I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1261	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAATCTATAGGTCTGCAGGCT	0.572000													36	2					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15752761	15752761	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:15752761C>T	ENST00000399451.2	-	12	1571	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D435N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	402						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCAAAATCATCTGGGGTATCT	0.328000													51	6					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69575328	69575328	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:69575328C>T	ENST00000357308.4	-	11	1162	c.984G>A	c.(982-984)caG>caA	p.Q328Q	GFPT1_ENST00000361060.5_Silent_p.Q310Q	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	328					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GGAGTTCCATCTGGAGTGTTT	0.428000													75	73					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929255	49929255	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49929255G>A	ENST00000296474.3	-	15	3315	c.3288C>T	c.(3286-3288)gtC>gtT	p.V1096V	MST1R_ENST00000344206.4_Silent_p.V1047V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1096	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTCCGTGGTAGACAACTCCAA	0.532000													129	11					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592000													67	72					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16883020	16883020	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:16883020C>T	ENST00000377833.4	-	61	9755	c.9690G>A	c.(9688-9690)gcG>gcA	p.A3230A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3230	CUB 24.				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)	CAGCCAAGTTCGCATTTTCAC	0.368000													14	15					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70447864	70447864	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:70447864C>G	ENST00000370577.3	-	7	835	c.606G>C	c.(604-606)ttG>ttC	p.L202F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.L129F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	202					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACATTCCAATCAAGGTCAGAG	0.289000													12	13					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838384	16838384	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:16838384C>T	ENST00000355661.3	-	11	1839	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G610E|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G610E			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	610	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGAGAATCCCCCAGCGAGAT	0.657000													49	5					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132565654	132565654	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565654G>A	ENST00000259339.2	+	1	223	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	55					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGCTTCGCCGAGTGCTGCCG	0.746000													21	2					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60264894	60264894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:60264894G>T	ENST00000016913.4	+	2	160	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	MS4A12_ENST00000537076.1_Missense_Mutation_p.G35C|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	35						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ACAGCCTCTGGGTTCAATCAA	0.507000													80	86					4.81439e-37	5.03323e-37	1	1	0
HPN	3249	broad.mit.edu	37	19	35551678	35551678	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35551678C>T	ENST00000262626.2	+	9	1593	c.768C>T	c.(766-768)aaC>aaT	p.N256N	HPN_ENST00000392226.1_Silent_p.N256N|HPN_ENST00000597419.1_Silent_p.N98N|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	256	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGAACAGCAACGATATTGCCC	0.637000													19	105					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394437	52394437	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:52394437G>C	ENST00000354957.3	-	5	1236	c.952C>G	c.(952-954)Cat>Gat	p.H318D	ZNF649_ENST00000600738.1_Missense_Mutation_p.H290D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGCATGTATGAGGCTTCTCT	0.453000													27	37					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	75					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103305851	103305851	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:103305851G>A	ENST00000520539.1	-	34	5177	c.4571C>T	c.(4570-4572)tCa>tTa	p.S1524L	UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000521922.1_Missense_Mutation_p.S1518L|UBR5_ENST00000220959.4_Missense_Mutation_p.S1524L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1524					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGATCAGATGATGGTCGTGG	0.443000													36	64					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110238434	110238434	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:110238434T>C	ENST00000418703.2	-	4	936	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y247C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y281C|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y281C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	281					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAAGTAGAAGTAGCCCCCCTC	0.612000													61	28					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:100701061C>T	ENST00000370132.4	-	3	195	c.182G>A	c.(181-183)cGt>cAt	p.R61H	DBT_ENST00000370131.3_Missense_Mutation_p.R61H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333000													8	72					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844772	147844772	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:147844772G>A	ENST00000361727.3	+	17	3260	c.2744G>A	c.(2743-2745)cGc>cAc	p.R915H	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	915	Laminin G-like 3.				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	p.R915H(1)		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)			GGCCACACCCGCCTGGAGCTC	0.522000										HNSCC(39;0.1)			55	53					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44296955	44296955	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:44296955G>A	ENST00000329255.3	-	2	823	c.720C>T	c.(718-720)gaC>gaT	p.D240D		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	240					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGCATACACGTCTGGGTAGT	0.617000													106	13					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210828	205210828	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:205210828G>A	ENST00000358024.3	+	2	792	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	TMCC2_ENST00000545499.1_Missense_Mutation_p.A57T|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	135						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCTACGCCATGTCCCT	0.662000													19	35					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626350	187626350	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:187626350A>T	ENST00000304698.5	+	8	1484	c.1281A>T	c.(1279-1281)ttA>ttT	p.L427F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	427						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCGCAGTTATTCAATGCCA	0.383000													52	46					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691635	90691635	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:90691635G>A	ENST00000312600.3	+	2	1273	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	PABPC5_ENST00000373105.1_Silent_p.E189E	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	353	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTTTTGAAGAGGCTACCAAAG	0.517000													29	2					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053301	46053301	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:46053301G>A	ENST00000536708.2	+	8	904	c.795G>A	c.(793-795)gaG>gaA	p.E265E	CDK5RAP3_ENST00000338399.4_Silent_p.E240E	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	240					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CGGTGTACGAGTGGAGGACAG	0.587000													46	84					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201632	140201632	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:140201632G>A	ENST00000529859.1	+	1	272	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622000													13	243					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912861	77912861	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:77912861C>T	ENST00000321110.1	-	2	1352	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	353							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGCTTTCATCCCAGTTCAGC	0.473000													20	3					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:248084484G>A	ENST00000319968.4	+	1	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522000													62	95					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43142655	43142655	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:43142655T>C	ENST00000342374.4	-	2	223	c.66A>G	c.(64-66)tcA>tcG	p.S22S	SERINC3_ENST00000255175.1_Silent_p.S22S|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	22						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAGCAAACATGAGGCACCGC	0.488000													84	49					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627912	26627912	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:26627912G>T	ENST00000380573.3	-	3	2178	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L	ADRA1A_ENST00000519229.1_Missense_Mutation_p.F385L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.F385L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.F385L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	385					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGATCCTGTAGAAGGTCTCTC	0.557000													106	118					3.33393e-45	3.50539e-45	1	1	0
ZNF277	11179	broad.mit.edu	37	7	111981066	111981066	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:111981066G>A	ENST00000361822.3	+	11	1278	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	383						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACACACTTCGCTGCTCCCCG	0.423000													44	50					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521050	22521050	+	RNA	SNP	C	C	T	rs144813465	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:22521050C>T	ENST00000390449.3	+	0	78																											CAGGAGGTGACGCAGATTCCT	0.423000													63	69					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	734746	734746	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:734746A>G	ENST00000382303.1	+	11	3897		c.e11-1		KANK1_ENST00000382293.3_Splice_Site|KANK1_ENST00000382297.2_Splice_Site|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTCTCCTTTCAGGTATGAATT	0.338000													38	29					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662000													3	26					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188366	152188366	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:152188366G>A	ENST00000368801.2	-	3	5814	c.5739C>T	c.(5737-5739)caC>caT	p.H1913H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1913					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTAGATCCGTGTTGTTCAC	0.557000													194	3210					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132565666	132565666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565666G>A	ENST00000259339.2	+	1	235	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	59					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGCTGCCGCGAGGAGCGGCC	0.746000													20	3					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908464	23908464	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:23908464C>T	ENST00000382298.3	-	10	10139	c.9551G>A	c.(9550-9552)cGc>cAc	p.R3184H	SACS_ENST00000402364.1_Missense_Mutation_p.R2434H|SACS_ENST00000382292.3_Missense_Mutation_p.R3184H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3184					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTCTTTGCGGGATGGAAT	0.343000													11	13					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6158568	6158568	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:6158568C>T	ENST00000164247.1	+	16	1602	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	KCNAB2_ENST00000378083.3_Silent_p.S394S|KCNAB2_ENST00000458166.2_Silent_p.S279S|KCNAB2_ENST00000378092.1_Silent_p.S332S|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.S332S|KCNAB2_ENST00000602612.1_3'UTR|KCNAB2_ENST00000378097.1_Silent_p.S346S|KCNAB2_ENST00000341524.1_Silent_p.S346S	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	346						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCATCTTCCATTATCCACG	0.537000													17	30					0	0	1	0	0
NKX6-3	157848	broad.mit.edu	37	8	41504183	41504183	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:41504183G>A	ENST00000524115.2	-	2	196	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	195						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCTTCTTCCGCCACTTGGTC	0.697000													5	9					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633513	116633513	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:116633513G>A	ENST00000260210.4	-	4	815	c.792C>T	c.(790-792)ctC>ctT	p.L264L	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	264	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGCCCTTCTGAGTTGCTGTG	0.517000													140	14					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49957275	49957275	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:49957275C>G	ENST00000550165.1	-	8	878	c.612G>C	c.(610-612)caG>caC	p.Q204H	MCRS1_ENST00000357123.4_Missense_Mutation_p.Q217H|MCRS1_ENST00000343810.4_Missense_Mutation_p.Q204H|MCRS1_ENST00000546244.1_Missense_Mutation_p.Q13H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	204					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GGGCCTTGCTCTGGATGGCTG	0.597000													6	13					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79205678	79205678	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:79205678T>C	ENST00000264895.6	+	13	1815	c.1375T>C	c.(1375-1377)Tac>Cac	p.Y459H	FRAS1_ENST00000325942.6_Missense_Mutation_p.Y459H|FRAS1_ENST00000264899.6_Missense_Mutation_p.Y459H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	459					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTGGGTTTTTACCAAGCTGG	0.488000													53	82					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36492872	36492872	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:36492872G>A	ENST00000342292.4	-	4	1236	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	406						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGTTCCGGCGGCAGCGGTAG	0.612000													9	11					0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43243262	43243262	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:43243262C>T	ENST00000372889.1	+	5	650	c.65C>T	c.(64-66)gCg>gTg	p.A22V	PKIG_ENST00000372892.3_Missense_Mutation_p.A22V|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372887.1_Missense_Mutation_p.A22V|PKIG_ENST00000372891.3_Missense_Mutation_p.A22V|PKIG_ENST00000372882.3_Missense_Mutation_p.A22V|PKIG_ENST00000349959.3_Missense_Mutation_p.A22V|PKIG_ENST00000372886.1_Missense_Mutation_p.A22V|PKIG_ENST00000372894.3_Missense_Mutation_p.A22V	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	22							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGTCGGAATGCGGTCCCTGAC	0.627000													4	191					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43495459	43495459	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:43495459C>T	ENST00000265351.7	-	26	3043	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	945					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGCAGCCTCATCTTCTCCA	0.507000													35	44					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3417236	3417236	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:3417236G>A	ENST00000356575.4	-	21	2894	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	MEGF6_ENST00000294599.4_Silent_p.L785L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	890	EGF-like 15.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCTCACACAGACACAGGCCG	0.657000													4	7					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198281605	198281605	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:198281605C>T	ENST00000335508.6	-	6	617	c.526G>A	c.(526-528)Gct>Act	p.A176T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAGCTTTAGCTTTTTCTGCT	0.423000			Mis		myelodysplastic syndrome								54	125					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97779652	97779652	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:97779652A>G	ENST00000420699.2	+	1	420	c.176A>G	c.(175-177)aAt>aGt	p.N59S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.N59S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	59										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATGACGCCAATAAGAGAGAC	0.527000													30	27					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43934541	43934541	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:43934541A>T	ENST00000282406.4	+	11	1933	c.1823A>T	c.(1822-1824)aAg>aTg	p.K608M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	608						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTCTTTAGAAGGCGACCCAA	0.488000													4	137					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				20	11					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012388	29012388	+	Silent	SNP	C	C	T	rs116486684	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:29012388C>T	ENST00000282397.4	-	4	734	c.483G>A	c.(481-483)acG>acA	p.T161T	FLT1_ENST00000539099.1_Silent_p.T161T|FLT1_ENST00000541932.1_Silent_p.T161T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	161	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTTAGGTGACGTAACCCGGC	0.398000													11	11					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27126006	27126006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:27126006C>T	ENST00000335625.5	+	4	988	c.100C>T	c.(100-102)Cca>Tca	p.P34S	GABRA5_ENST00000400081.3_Missense_Mutation_p.P34S|GABRA5_ENST00000355395.5_Missense_Mutation_p.P34S|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	34					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCACAGATGCCAACCAGTTC	0.418000													21	39					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671775	25671775	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:25671775C>G	ENST00000281589.3	+	1	1476	c.1439C>G	c.(1438-1440)tCa>tGa	p.S480*		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	480					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCTAACACATCAACACAGACA	0.552000													31	55					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399647	228399647	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:228399647C>T	ENST00000570156.2	+	2	237	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R55C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R55C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	55	Ig-like 1.				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)				GGCCGGCGCGCGCTTCCGTCT	0.687000													11	6					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5212395	5212395	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:5212395G>A	ENST00000372412.4	-	31	4958	c.4725C>T	c.(4723-4725)gtC>gtT	p.V1575V	PTPRS_ENST00000348075.2_Silent_p.V1536V|PTPRS_ENST00000588012.1_Silent_p.V1536V|PTPRS_ENST00000592099.1_Silent_p.V1127V|PTPRS_ENST00000357368.4_Silent_p.V1574V|PTPRS_ENST00000262963.6_Silent_p.V1554V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.V1574V|PTPRS_ENST00000353284.2_Silent_p.V1127V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1574	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCAGGTCTTGACTCTCCGCA	0.662000													6	27					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984287	223984287	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:223984287C>T	ENST00000391878.2	-	14	2335	c.1567G>A	c.(1567-1569)Ggt>Agt	p.G523S	TP53BP2_ENST00000343537.7_Missense_Mutation_p.G652S|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	646					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACAGGCTTACCATATACTAAT	0.398000													34	77					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54969173	54969173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:54969173G>T	ENST00000316881.4	-	9	1830	c.1781C>A	c.(1780-1782)gCc>gAc	p.A594D	TRIM25_ENST00000537230.1_Missense_Mutation_p.A594D|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	594	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GACCTTGTCGGCAACAGCGAA	0.542000													25	28					4.4004e-07	4.47334e-07	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131381226	131381226	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381226G>A	ENST00000358161.5	+	44	5790	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1888K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1893K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1888					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGATCAATGAGAAAATGAC	0.498000													37	6					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:13716716G>A	ENST00000609686.1	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGATGTCGGTCAGGTCTA	0.577000													66	33					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622000													46	19					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913289	60913289	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:60913289C>T	ENST00000252999.3	-	13	1821	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	585	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACTCACACTGGCAGAGAG	0.672000													18	23					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051478	38051478	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:38051478G>C	ENST00000261439.4	+	11	2224	c.1869G>C	c.(1867-1869)atG>atC	p.M623I	TBC1D1_ENST00000508802.1_Missense_Mutation_p.M623I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	623						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGAAACTTATGAGGTATCACT	0.507000													124	56					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133155	38133155	+	Silent	SNP	C	C	T	rs138595723	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:38133155C>T	ENST00000301659.4	+	12	1300	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	394					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCCTTGGGGACGAGGAGCTGA	0.597000													24	104					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342246	56342246	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56342246G>A	ENST00000262290.4	+	10	1746	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	LPO_ENST00000421678.2_Missense_Mutation_p.R394H|LPO_ENST00000582328.1_Missense_Mutation_p.R394H|LPO_ENST00000543544.1_Missense_Mutation_p.R418H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	477					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGTATGTTCCGCCTGGATGAG	0.512000													32	43					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150606	132150606	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:132150606G>A	ENST00000378693.2	+	1	1574	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	431																	CCGGCTCCTCGTACGCGCTGC	0.706000													6	7					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815073	55815073	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:55815073C>T	ENST00000309383.1	+	12	1442	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	BRSK1_ENST00000590333.1_Missense_Mutation_p.R405C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R84C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	389					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGCTGAGCCGTCACGGGAA	0.612000													61	82					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076790	9076790	+	Silent	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:9076790A>T	ENST00000397910.4	-	3	10859	c.10656T>A	c.(10654-10656)acT>acA	p.T3552T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3553	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						TGGGTGTGGTAGTTGAGATTG	0.547000													90	131					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504295	70504295	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:70504295G>A	ENST00000310961.5	+	22	3107	c.2689G>A	c.(2689-2691)Gta>Ata	p.V897I	LRRC7_ENST00000415775.2_Missense_Mutation_p.V176I|LRRC7_ENST00000035383.5_Missense_Mutation_p.V892I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	892						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCCAGGCGTACCATGGGA	0.423000													48	82					0	0	1	0	0
XPA	7507	broad.mit.edu	37	9	100459547	100459547	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:100459547C>T	ENST00000375128.4	-	1	92	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	10	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GCCGCCGCCTCCGGCAAAGCC	0.736000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	20					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117045538	117045538	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:117045538G>A	ENST00000368564.1	+	10	1147	c.999G>A	c.(997-999)caG>caA	p.Q333Q	KPNA5_ENST00000356348.1_Splice_Site_p.Q333Q			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	330	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCAAACACAGGTGAGTTCAA	0.279000													14	30					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141244	114141244	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:114141244G>A	ENST00000276198.1	+	6	1371	c.643G>A	c.(643-645)Gtt>Att	p.V215I	HTR2C_ENST00000371950.3_Missense_Mutation_p.R183H|HTR2C_ENST00000371951.1_Missense_Mutation_p.V215I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	215					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.V215I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCCAAATTTCGTTCTTATTGG	0.468000													191	15					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:18088053G>A	ENST00000399138.4	+	1	501	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RP11-258F1.1_ENST00000583062.1_RNA|ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	166						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672000													45	3					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409644	13409644	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:13409644G>A	ENST00000360228.5	-	19	2802	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R936W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	936					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCCCCTGCCGGTGCACGTGC	0.781000													16	20					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497802	95497802	+	RNA	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:95497802G>C	ENST00000432432.2	-	0	1041					NR_040113.1																						CGAAGGTCCAGGTAAAGGCTC	0.388000													6	271					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129150350	129150350	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:129150350T>C	ENST00000429544.2	-	8	1914	c.1719A>G	c.(1717-1719)ctA>ctG	p.L573L	MBD4_ENST00000503197.1_3'UTR|MBD4_ENST00000249910.1_Silent_p.L579L|MBD4_ENST00000393278.2_Silent_p.L261L	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	579					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GAGTTTAAGATAGACTTAATT	0.368000								Base excision repair (BER), DNA glycosylases					125	9					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161789557	161789557	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:161789557G>A	ENST00000367942.3	+	8	1111	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	348	Leucine-zipper.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACGAGCAACTGAAGAAAGAAA	0.448000													19	27					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769712	160769712	+	Translation_Start_Site	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:160769712T>A	ENST00000368040.1	+	0	344				LY9_ENST00000368037.5_Silent_p.I98I|LY9_ENST00000368039.2_Silent_p.I98I|LY9_ENST00000341032.4_Silent_p.I98I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.I58I|LY9_ENST00000392203.4_Silent_p.I98I|LY9_ENST00000263285.6_Silent_p.I98I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTAACCATTATGGTCAAAA	0.468000													70	90					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35061086	35061086	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:35061086G>A	ENST00000358901.6	-	11	2180	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	429					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGTCAATGAGATCCATCTTC	0.537000													139	131					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609175	18609175	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:18609175G>A	ENST00000330423.3	+	4	503	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78S	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTTGGTGGGGGCACTGGCTC	0.537000													4	196					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176836	43176836	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:43176836A>C	ENST00000352483.2	-	2	387	c.323T>G	c.(322-324)cTg>cGg	p.L108R	RIPK4_ENST00000332512.3_Missense_Mutation_p.L108R|RIPK4_ENST00000542057.1_Missense_Mutation_p.L45R|RIPK4_ENST00000544709.1_Missense_Mutation_p.L45R			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	108						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCGAAGCCAGCAGCTTTTC	0.602000													49	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579099	179579099	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:179579099G>A	ENST00000589042.1	-	91	26626	c.26402C>T	c.(26401-26403)cCa>cTa	p.P8801L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7557L|TTN_ENST00000591111.1_Missense_Mutation_p.P8484L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8484	Ig-like 71.						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)			AGCATTGGCTGGTTCCACTCT	0.403000													65	32					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732																											cagagtgatttcggatgaatt	0.507000													5	116					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73958134	73958134	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:73958134A>G	ENST00000328257.8	+	11	1298	c.975A>G	c.(973-975)agA>agG	p.R325R	PPME1_ENST00000398427.4_Silent_p.R339R|PPME1_ENST00000543525.1_Silent_p.R138R|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	325					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GTGTTGATAGATTGGATAAAG	0.348000													15	17					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388173	56388173	+	Missense_Mutation	SNP	C	C	T	rs140370063	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr15:56388173C>T	ENST00000423270.1	-	9	1752	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	RFX7_ENST00000317318.6_Missense_Mutation_p.E585K|RFX7_ENST00000559447.2_Missense_Mutation_p.E488K|RFX7_ENST00000422057.1_Missense_Mutation_p.E488K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	488					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATGACACCTTCATTTGAAGGT	0.458000													21	14					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:40556892C>T	ENST00000357037.5	-	2	1405	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	329					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677000													24	66					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35451871	35451871	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:35451871T>C	ENST00000404801.1	-	2	447	c.61A>G	c.(61-63)Att>Gtt	p.I21V		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGTAAATGGTCACGTCC	0.547000													76	102					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157739894	157739894	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:157739894G>A	ENST00000361516.3	-	4	405	c.357C>T	c.(355-357)atC>atT	p.I119I	FCRL2_ENST00000392274.3_Silent_p.I119I|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	119	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACCCCCTTCGATGGGCTGGA	0.527000													40	41					0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr6:13588578G>A	ENST00000606117.1	+	4	427	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	44	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	p.R44Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCAGATTTTCGAAAGTTTTTT	0.403000													35	32					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837636	79837636	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:79837636C>G	ENST00000282226.4	+	6	971	c.816C>G	c.(814-816)atC>atG	p.I272M	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	272										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTGGAATCAAAGTTAATC	0.299000													12	9					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45247383	45247383	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:45247383A>C	ENST00000066544.3	-	4	370	c.277T>G	c.(277-279)Tct>Gct	p.S93A	CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.S93A|CDC27_ENST00000446365.2_Missense_Mutation_p.S32A|CDC27_ENST00000527547.1_Missense_Mutation_p.S93A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTCCACCAGATAAGATTTGT	0.313000													8	142					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11911614	11911614	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr2:11911614G>A	ENST00000256720.2	+	4	498	c.405G>A	c.(403-405)acG>acA	p.T135T	LPIN1_ENST00000449576.2_Silent_p.T184T|LPIN1_ENST00000396098.1_Silent_p.T141T|LPIN1_ENST00000396099.1_Silent_p.T141T|LPIN1_ENST00000425416.2_Silent_p.T141T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	135					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCCAGCACGCCAGCCCAAG	0.567000													12	61					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185684329	185684329	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:185684329C>T	ENST00000515030.1	-	16	1838	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	ACSL1_ENST00000513317.1_Missense_Mutation_p.E505K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E334K|ACSL1_ENST00000507295.1_Missense_Mutation_p.E471K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E505K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E334K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E505K			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	505					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTCGCCCTCGCCCTCGGCA	0.478000													8	21					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178063703	178063703	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:178063703G>A	ENST00000448150.3	+	1	840	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RASAL2_ENST00000367649.3_Missense_Mutation_p.D26N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0					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						GCTGGAGTCCGACTCGCCGCT	0.706000													11	6					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													5	143					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	75					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104956	168104956	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr2:168104956G>A	ENST00000409195.1	+	9	7143	c.7054G>A	c.(7054-7056)Gat>Aat	p.D2352N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2130N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2352N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2177					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTCCAGTAGATGAGAAATC	0.473000													47	131					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:56321382C>G	ENST00000262290.4	+	3	420	c.104C>G	c.(103-105)tCc>tGc	p.S35C	LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	35					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGCCATCTCCGATACTGTG	0.542000													11	32					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916142	126916142	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:126916142C>T	ENST00000398112.1	+	2	854	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGCTGCAGTTCAGAGCTCCGC	0.652000													40	6					0	0	1	0	0
VDAC1	7416	broad.mit.edu	37	5	133326826	133326826	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:133326826G>A	ENST00000265333.3	-	4	381	c.137C>T	c.(136-138)tCa>tTa	p.S46L	VDAC1_ENST00000395044.3_Missense_Mutation_p.S46L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.S46L	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	46					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AGTGTTGGCTGAGCCTGAGCT	0.478000													27	84					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59415362	59415362	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr11:59415362C>T	ENST00000300146.9	-	15	1842	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	586	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACACATGATCTGTACAAAGT	0.438000													20	30					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837648	79837648	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:79837648C>T	ENST00000282226.4	+	6	983	c.828C>T	c.(826-828)ctC>ctT	p.L276L	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	276										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAGTTAATCTCTAAGAAGAAG	0.299000													10	9					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50740776	50740776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:50740776G>A	ENST00000355832.5	-	2	313	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Q79*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Q79*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	79					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						GCCTGGATCTGATGTCGGTCG	0.622000								Direct reversal of damage;Nucleotide excision repair (NER)					25	33					0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43243262	43243262	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr20:43243262C>T	ENST00000372889.1	+	5	650	c.65C>T	c.(64-66)gCg>gTg	p.A22V	PKIG_ENST00000349959.3_Missense_Mutation_p.A22V|PKIG_ENST00000372892.3_Missense_Mutation_p.A22V|PKIG_ENST00000372887.1_Missense_Mutation_p.A22V|PKIG_ENST00000372894.3_Missense_Mutation_p.A22V|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372882.3_Missense_Mutation_p.A22V|PKIG_ENST00000372886.1_Missense_Mutation_p.A22V|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372891.3_Missense_Mutation_p.A22V	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	22							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGTCGGAATGCGGTCCCTGAC	0.627000													4	191					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118424359	118424359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:118424359C>G	ENST00000369210.3	-	4	428	c.374G>C	c.(373-375)aGa>aCa	p.R125T	C10orf82_ENST00000588184.1_Missense_Mutation_p.R125T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	125										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GACAGTGTATCTCGTGCCACA	0.522000													49	64					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84399296	84399296	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:84399296G>A	ENST00000260505.8	-	9	1419	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	348	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTACCTCCAGAAGCCATGGC	0.373000													67	71					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504295	70504295	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:70504295G>A	ENST00000310961.5	+	22	3107	c.2689G>A	c.(2689-2691)Gta>Ata	p.V897I	LRRC7_ENST00000035383.5_Missense_Mutation_p.V892I|LRRC7_ENST00000415775.2_Missense_Mutation_p.V176I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	892						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCCAGGCGTACCATGGGA	0.423000													48	82					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	46					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61712986	61712986	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr8:61712986A>G	ENST00000423902.2	+	5	2757	c.2278A>G	c.(2278-2280)Act>Gct	p.T760A	CHD7_ENST00000525508.1_Missense_Mutation_p.T760A|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	760					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGCGCTACACTGAAGACCT	0.478000													21	21					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110238434	110238434	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:110238434T>C	ENST00000418703.2	-	4	936	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y281C|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y247C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	281					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAAGTAGAAGTAGCCCCCCTC	0.612000													61	28					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213484	21213484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr22:21213484G>A	ENST00000215730.7	+	1	214	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGGGACGCCCGAGACCTCCCC	0.716000													10	28					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928679	49928679	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:49928679G>A	ENST00000296474.3	-	17	3622	c.3595C>T	c.(3595-3597)Ctg>Ttg	p.L1199L	MST1R_ENST00000344206.4_Silent_p.L1150L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1199	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCTGCCAGGTACTCCATG	0.612000													63	2					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151141526	151141526	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:151141526G>A	ENST00000368905.4	+	7	769	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	220					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTTGACTCTGATGAGGAGGA	0.423000													52	68					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132565666	132565666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:132565666G>A	ENST00000259339.2	+	1	235	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	59					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGCTGCCGCGAGGAGCGGCC	0.746000													20	3					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654755	161654755	+	RNA	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:161654755G>A	ENST00000426558.1	-	0	287					NR_002595.1																						ACACGGATTCGGTATGGGACA	0.448000													17	18					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360386	72360386	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:72360386C>T	ENST00000441259.1	-	2	433	c.273G>A	c.(271-273)gcG>gcA	p.A91A	PRF1_ENST00000373209.2_Silent_p.A91A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	91	MACPF.		A -> V (in dbSNP:rs35947132).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGTGAGCGCCAGAGGCA	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				18	16					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	76					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971574	39971574	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:39971574G>A	ENST00000314349.4	+	1	523	c.390G>A	c.(388-390)gcG>gcA	p.A130A	TIMM50_ENST00000599794.1_Silent_p.A27A|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Silent_p.A27A	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	27					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGTTGGCGACGCCGCCCC	0.706000													9	23					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:248084484G>A	ENST00000319968.4	+	1	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522000													62	95					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106916969	106916969	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:106916969A>T	ENST00000369701.3	+	10	1783	c.1556A>T	c.(1555-1557)aAc>aTc	p.N519I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	519						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCACTTACAACAAAGGCAGG	0.512000													27	24					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527888	155527888	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:155527888G>A	ENST00000404648.3	-	8	1337	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	FGG_ENST00000407946.1_Silent_p.H374H|FGG_ENST00000405164.1_Silent_p.H374H|FGG_ENST00000336098.3_Silent_p.H366H	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	366	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATGGCCAGCGTGACACTTGT	0.363000													29	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531924	92531924	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr11:92531924C>T	ENST00000298047.6	+	9	5762	c.5745C>T	c.(5743-5745)ccC>ccT	p.P1915P	FAT3_ENST00000525166.1_Silent_p.P1765P|FAT3_ENST00000409404.2_Silent_p.P1915P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1915	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGAGGTACCCCCTGAACTGA	0.418000										TCGA Ovarian(4;0.039)			25	3					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928719	49928719	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:49928719G>A	ENST00000296474.3	-	17	3582	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	MST1R_ENST00000344206.4_Silent_p.L1136L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1185	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAAGCTGATGAGGTCCTTCA	0.632000													64	4					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:72368159C>T	ENST00000335666.4	+	4	857	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGGGCCGCCTCGTCCCCAGGC	0.657000													23	22					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272043	22272043	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:22272043C>T	ENST00000594947.1	+	4	1635	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTAACCGGTCTTCAC	0.393000													32	35					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5212395	5212395	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:5212395G>A	ENST00000372412.4	-	31	4958	c.4725C>T	c.(4723-4725)gtC>gtT	p.V1575V	PTPRS_ENST00000262963.6_Silent_p.V1554V|PTPRS_ENST00000587303.1_Silent_p.V1574V|PTPRS_ENST00000588012.1_Silent_p.V1536V|PTPRS_ENST00000592099.1_Silent_p.V1127V|PTPRS_ENST00000348075.2_Silent_p.V1536V|PTPRS_ENST00000353284.2_Silent_p.V1127V|PTPRS_ENST00000357368.4_Silent_p.V1574V|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1574	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCAGGTCTTGACTCTCCGCA	0.662000													6	27					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459681	27459681	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:27459681C>G	ENST00000375946.4	+	8	2396	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	MASTL_ENST00000342386.6_Missense_Mutation_p.S598C|MASTL_ENST00000375940.4_Missense_Mutation_p.S598C|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	598	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGAATCCTCTTTTGAAGAA	0.368000													10	23					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753602	13753602	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:13753602A>C	ENST00000265104.4	-	63	10716	c.10612T>G	c.(10612-10614)Ttt>Gtt	p.F3538V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3538					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)					AGATCACGAAACTCTTGGTTA	0.383000									Kartagener syndrome				33	95					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237756779	237756779	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:237756779T>A	ENST00000366574.2	+	33	4596	c.4279T>A	c.(4279-4281)Tat>Aat	p.Y1427N	RYR2_ENST00000542537.1_Missense_Mutation_p.Y1411N|RYR2_ENST00000360064.6_Missense_Mutation_p.Y1425N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1427	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCACAGTACTATTACTCAGT	0.388000													12	46					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743176	96743176	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr13:96743176C>G	ENST00000376705.2	+	1	84	c.60C>G	c.(58-60)gtC>gtG	p.V20V		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	20						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCTTCGTGGTCATCATGTACC	0.697000													16	27					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532349	100532349	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:100532349C>T	ENST00000457717.1	+	14	2075	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.R607C|MTTP_ENST00000511045.1_Missense_Mutation_p.R634C	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	607	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAATTATGACCGTTTCTCCAG	0.423000													26	46					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304792	102304792	+	RNA	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr15:102304792G>C	ENST00000561463.1	+	0	12838																											CGCGTGGGAAGAAGAAGACAC	0.587000													3	23					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496330	76496330	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr15:76496330C>T	ENST00000388942.3	+	11	1546	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	424						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGAGCCCGGCCCTTCTCCCCC	0.701000													28	38					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102442494	102442494	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:102442494C>T	ENST00000399004.2	-	3	353	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	GIN1_ENST00000508629.1_Missense_Mutation_p.G87S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	87					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGGATATACCATGATGAGCT	0.363000													16	8					0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	846267	846267	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:846267G>A	ENST00000544537.2	+	3	549	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PRTN3_ENST00000234347.5_Missense_Mutation_p.D164N			P24158	PRTN3_HUMAN	proteinase 3	164	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		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)		GGGTGCCCACGACCCCCCAGC	0.677000													8	8					0	0	1	0	0
XPA	7507	broad.mit.edu	37	9	100459547	100459547	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:100459547C>T	ENST00000375128.4	-	1	92	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	10	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GCCGCCGCCTCCGGCAAAGCC	0.736000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	20					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr8:139606405C>T	ENST00000303045.6	-	63	4916	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A	COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602000										HNSCC(7;0.00092)			40	59					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573435	19573435	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:19573435C>T	ENST00000341998.2	-	6	1322	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	SLC24A2_ENST00000286344.3_Missense_Mutation_p.D404N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	421					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTTCAACATCTGTGCTGGTG	0.433000													48	16					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68404192	68404192	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:68404192G>C	ENST00000396591.3	+	5	986	c.376G>C	c.(376-378)Gag>Cag	p.E126Q		NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	126					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGCTATTTGAGCACAGTGA	0.333000													15	14					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963097	57963097	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:57963097G>A	ENST00000455537.2	+	10	1152	c.878G>A	c.(877-879)gGg>gAg	p.G293E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G204E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	293	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACTCTCTCGGGGGAAACTGC	0.478000													22	71					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817949	55817949	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr14:55817949G>C	ENST00000313833.4	+	2	1086	c.841G>C	c.(841-843)Gac>Cac	p.D281H	FBXO34_ENST00000440021.1_Missense_Mutation_p.D281H	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	281										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCGTGTCCTTGACATGGTAGC	0.552000													88	81					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49927946	49927946	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:49927946G>A	ENST00000296474.3	-	18	3809	c.3782C>T	c.(3781-3783)aCc>aTc	p.T1261I	MST1R_ENST00000344206.4_Missense_Mutation_p.T1212I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1261	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAATCTATAGGTCTGCAGGCT	0.572000													36	2					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420475	11420475	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:11420475A>G	ENST00000279573.7	-	3	843	c.708T>C	c.(706-708)ccT>ccC	p.P236P	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGACCTTGAGGTTTGTTGC	0.617000													5	5					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929255	49929255	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:49929255G>A	ENST00000296474.3	-	15	3315	c.3288C>T	c.(3286-3288)gtC>gtT	p.V1096V	MST1R_ENST00000344206.4_Silent_p.V1047V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1096	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTCCGTGGTAGACAACTCCAA	0.532000													129	11					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16883020	16883020	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:16883020C>T	ENST00000377833.4	-	61	9755	c.9690G>A	c.(9688-9690)gcG>gcA	p.A3230A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3230	CUB 24.				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)	CAGCCAAGTTCGCATTTTCAC	0.368000													14	15					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70447864	70447864	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr6:70447864C>G	ENST00000370577.3	-	7	835	c.606G>C	c.(604-606)ttG>ttC	p.L202F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.L129F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	202					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACATTCCAATCAAGGTCAGAG	0.289000													12	13					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132565654	132565654	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:132565654G>A	ENST00000259339.2	+	1	223	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	55					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGCTTCGCCGAGTGCTGCCG	0.746000													21	2					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551678	35551678	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:35551678C>T	ENST00000262626.2	+	9	1593	c.768C>T	c.(766-768)aaC>aaT	p.N256N	HPN_ENST00000597419.1_Silent_p.N98N|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.N256N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	256	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGAACAGCAACGATATTGCCC	0.637000													19	105					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394437	52394437	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:52394437G>C	ENST00000354957.3	-	5	1236	c.952C>G	c.(952-954)Cat>Gat	p.H318D	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.H290D	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGCATGTATGAGGCTTCTCT	0.453000													27	37					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103305851	103305851	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr8:103305851G>A	ENST00000520539.1	-	34	5177	c.4571C>T	c.(4570-4572)tCa>tTa	p.S1524L	UBR5_ENST00000521922.1_Missense_Mutation_p.S1518L|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Missense_Mutation_p.S1524L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1524					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGATCAGATGATGGTCGTGG	0.443000													36	64					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:100701061C>T	ENST00000370132.4	-	3	195	c.182G>A	c.(181-183)cGt>cAt	p.R61H	DBT_ENST00000370131.3_Missense_Mutation_p.R61H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333000													8	72					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210828	205210828	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:205210828G>A	ENST00000358024.3	+	2	792	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.A57T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	135						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCTACGCCATGTCCCT	0.662000													19	35					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053301	46053301	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:46053301G>A	ENST00000536708.2	+	8	904	c.795G>A	c.(793-795)gaG>gaA	p.E265E	CDK5RAP3_ENST00000338399.4_Silent_p.E240E	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	240					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CGGTGTACGAGTGGAGGACAG	0.587000													46	84					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201632	140201632	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr5:140201632G>A	ENST00000529859.1	+	1	272	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622000													13	243					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111981066	111981066	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr7:111981066G>A	ENST00000361822.3	+	11	1278	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	383						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACACACTTCGCTGCTCCCCG	0.423000													44	50					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448000													5	356					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	734746	734746	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:734746A>G	ENST00000382303.1	+	11	3897		c.e11-1		KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Splice_Site|KANK1_ENST00000382297.2_Splice_Site	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTCTCCTTTCAGGTATGAATT	0.338000													38	29					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662000													3	26					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74009284	74009284	+	Missense_Mutation	SNP	C	C	G	rs142768884	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr11:74009284C>G	ENST00000331597.4	-	4	735	c.690G>C	c.(688-690)ttG>ttC	p.L230F	P4HA3_ENST00000427714.2_Missense_Mutation_p.L230F	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	230						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CCAAGTGATCCAAGGCATCTT	0.443000													48	87					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908464	23908464	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr13:23908464C>T	ENST00000382298.3	-	10	10139	c.9551G>A	c.(9550-9552)cGc>cAc	p.R3184H	SACS_ENST00000382292.3_Missense_Mutation_p.R3184H|SACS_ENST00000402364.1_Missense_Mutation_p.R2434H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3184					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTCTTTGCGGGATGGAAT	0.343000													11	13					0	0	1	0	0
NKX6-3	157848	broad.mit.edu	37	8	41504183	41504183	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr8:41504183G>A	ENST00000524115.2	-	2	196	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	195						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCTTCTTCCGCCACTTGGTC	0.697000													5	9					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79205678	79205678	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:79205678T>C	ENST00000264895.6	+	13	1815	c.1375T>C	c.(1375-1377)Tac>Cac	p.Y459H	FRAS1_ENST00000264899.6_Missense_Mutation_p.Y459H|FRAS1_ENST00000325942.6_Missense_Mutation_p.Y459H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	459					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTGGGTTTTTACCAAGCTGG	0.488000													53	82					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36492872	36492872	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:36492872G>A	ENST00000342292.4	-	4	1236	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	406						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGTTCCGGCGGCAGCGGTAG	0.612000													9	11					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41190341	41190341	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:41190341G>A	ENST00000252891.4	-	3	397	c.230C>T	c.(229-231)aCg>aTg	p.T77M	NUMBL_ENST00000598779.1_Missense_Mutation_p.T36M|NUMBL_ENST00000599594.1_5'UTR|NUMBL_ENST00000540131.1_Missense_Mutation_p.T36M	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	77	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GAAGCTGCACGTGCCCTTCCG	0.746000													11	9					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43495459	43495459	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr6:43495459C>T	ENST00000265351.7	-	26	3043	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	945					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGCAGCCTCATCTTCTCCA	0.507000													35	44					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													5	142					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43934541	43934541	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr2:43934541A>T	ENST00000282406.4	+	11	1933	c.1823A>T	c.(1822-1824)aAg>aTg	p.K608M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	608						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTCTTTAGAAGGCGACCCAA	0.488000													4	137					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				20	11					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012388	29012388	+	Silent	SNP	C	C	T	rs116486684	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr13:29012388C>T	ENST00000282397.4	-	4	734	c.483G>A	c.(481-483)acG>acA	p.T161T	FLT1_ENST00000539099.1_Silent_p.T161T|FLT1_ENST00000541932.1_Silent_p.T161T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	161	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTTAGGTGACGTAACCCGGC	0.398000													11	11					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27126006	27126006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr15:27126006C>T	ENST00000335625.5	+	4	988	c.100C>T	c.(100-102)Cca>Tca	p.P34S	GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.P34S|GABRA5_ENST00000400081.3_Missense_Mutation_p.P34S|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	34					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCACAGATGCCAACCAGTTC	0.418000													21	39					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399647	228399647	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:228399647C>T	ENST00000570156.2	+	2	237	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.R55C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R55C|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	55	Ig-like 1.				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)				GGCCGGCGCGCGCTTCCGTCT	0.687000													11	6					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984287	223984287	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:223984287C>T	ENST00000391878.2	-	14	2335	c.1567G>A	c.(1567-1569)Ggt>Agt	p.G523S	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.G652S|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	646					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACAGGCTTACCATATACTAAT	0.398000													34	77					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54969173	54969173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:54969173G>T	ENST00000316881.4	-	9	1830	c.1781C>A	c.(1780-1782)gCc>gAc	p.A594D	TRIM25_ENST00000537230.1_Missense_Mutation_p.A594D|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	594	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GACCTTGTCGGCAACAGCGAA	0.542000													25	28					4.4004e-07	4.51228e-07	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131381226	131381226	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:131381226G>A	ENST00000358161.5	+	44	5790	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1888K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1893K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1888					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGATCAATGAGAAAATGAC	0.498000													37	6					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622000													46	19					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913289	60913289	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr20:60913289C>T	ENST00000252999.3	-	13	1821	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	585	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACTCACACTGGCAGAGAG	0.672000													18	23					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135020668	135020668	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr10:135020668G>A	ENST00000304613.3	+	20	3628	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1205K|KNDC1_ENST00000368571.2_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1203					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGGGCCTGGAGCCCTGCAC	0.657000													4	8					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133155	38133155	+	Silent	SNP	C	C	T	rs138595723	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:38133155C>T	ENST00000301659.4	+	12	1300	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	394					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCCTTGGGGACGAGGAGCTGA	0.597000													24	104					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342246	56342246	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:56342246G>A	ENST00000262290.4	+	10	1746	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	LPO_ENST00000582328.1_Missense_Mutation_p.R394H|LPO_ENST00000543544.1_Missense_Mutation_p.R418H|LPO_ENST00000421678.2_Missense_Mutation_p.R394H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	477					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGTATGTTCCGCCTGGATGAG	0.512000													32	43					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379944	131379944	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:131379944G>C	ENST00000358161.5	+	42	5496	c.5383G>C	c.(5383-5385)Gag>Cag	p.E1795Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1790Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1795Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1790					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGGGCTCAGAGGACTACGG	0.572000													27	6					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379988	131379988	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:131379988G>T	ENST00000358161.5	+	42	5540	c.5427G>T	c.(5425-5427)aaG>aaT	p.K1809N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1804N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1809N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1804					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCTGAGGAAGAAGCACAAGC	0.597000													39	8					3.76604e-16	3.92837e-16	1	1	0
ALX4	60529	broad.mit.edu	37	11	44296955	44296955	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr11:44296955G>A	ENST00000329255.3	-	2	823	c.720C>T	c.(718-720)gaC>gaT	p.D240D		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	240					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGCATACACGTCTGGGTAGT	0.617000													106	13					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409644	13409644	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr19:13409644G>A	ENST00000360228.5	-	19	2802	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R936W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	936					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCCCCTGCCGGTGCACGTGC	0.781000													16	20					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497802	95497802	+	RNA	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr2:95497802G>C	ENST00000432432.2	-	0	1041					NR_040113.1																						CGAAGGTCCAGGTAAAGGCTC	0.388000													6	271					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161789557	161789557	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:161789557G>A	ENST00000367942.3	+	8	1111	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	348	Leucine-zipper.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACGAGCAACTGAAGAAAGAAA	0.448000													19	27					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609175	18609175	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr22:18609175G>A	ENST00000330423.3	+	4	503	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78S	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTTGGTGGGGGCACTGGCTC	0.537000													4	196					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73958134	73958134	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr11:73958134A>G	ENST00000328257.8	+	11	1298	c.975A>G	c.(973-975)agA>agG	p.R325R	PPME1_ENST00000543525.1_Silent_p.R138R|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000398427.4_Silent_p.R339R			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	325					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GTGTTGATAGATTGGATAAAG	0.348000													15	17					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058386	90058386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:90058386delG	ENST00000330947.2	+	6	2556	c.2196delG	c.(2194-2196)ttgfs	p.L732fs	LRRC8B_ENST00000439853.1_Frame_Shift_Del_p.L732fs|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Frame_Shift_Del_p.L732fs	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	732						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTTTACTTTTGGGGAAAAATA	0.423													47	69	---	---	---	---					
NOP14	8602	broad.mit.edu	37	4	2954005	2954006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:2954005_2954006insA	ENST00000416614.2	-	6	931_932	c.866_867insT	c.(865-867)ctgfs	p.L289fs	NOP14_ENST00000314262.6_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000398071.4_Frame_Shift_Ins_p.L289fs|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.L289fs			P78316	NOP14_HUMAN	NOP14 nucleolar protein	289					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACCCTACCTCCAGCTTCCTGAG	0.559													23	85	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													2	4	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151843779	151843788	+	Frame_Shift_Del	DEL	TTCTCACACA	TTCTCACACA	-	rs142657994	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:151843779_151843788delTTCTCACACA	ENST00000355193.2	-	54	14316_14325	c.14098_14107delTGTGTGAGAA	c.(14098-14109)tgtgtgagaaaafs	p.CVRK4700fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CVRK4643fs					lysine (K)-specific methyltransferase 2C																		TCAGACTTTTTTCTCACACATGCCACAGGC	0.419											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	52	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971093	+	Frame_Shift_Del	DEL	CC	CC	-	rs137854599		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:21971092_21971093delCC	ENST00000579755.1	-	2	600_601	c.308_309delGG	c.(307-309)gggfs	p.G103fs	CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.G89fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGGAAGCCCTCCCGGGCA	0.757		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			17	2	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131381207	131381207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381207delG	ENST00000372739.3	+	44	5768	c.5658delG	c.(5656-5658)gagfs	p.E1888fs	SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1888fs|SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.E1883fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1883					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGTGGAAGAGGAAGAAGCCT	0.498													41	7	---	---	---	---					
KCNK7	10089	broad.mit.edu	37	11	65360904	65360905	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:65360904_65360905delCT	ENST00000394216.2	-	2	983_984	c.760_761delAG	c.(760-762)aggfs	p.R254fs	KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000340313.4_Intron	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GTCCAGGCTCCTCTTCCCCCTT	0.649													40	67	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427030	49427033	+	Frame_Shift_Del	DEL	GGCC	GGCC	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:49427030_49427033delGGCC	ENST00000301067.7	-	39	11454_11457	c.11455_11458delGGCC	c.(11455-11460)ggccccfs	p.GP3819fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCCCTGGGGGCCCAAAGCTCCA	0.676													3	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49433666	49433699	+	Frame_Shift_Del	DEL	GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:49433666_49433699delGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	ENST00000301067.7	-	31	7853_7886	c.7854_7887delACCTGCACCCGACGGATCCCTCCCCTACCTGTCC	c.(7852-7887)ccacctgcacccgacggatccctcccctacctgtccfs	p.PPAPDGSLPYLS2618fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGCTCCATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAA	0.641													10	21	---	---	---	---					
GPR137C	283554	broad.mit.edu	37	14	53101795	53101798	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:53101795_53101798delAACA	ENST00000321662.6	+	7	1252_1255	c.1252_1255delAACA	c.(1252-1257)aacaatfs	p.NN418fs		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	418						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTAGATTTGAACAATCATCATAG	0.382													15	52	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													9	154	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47423804	47423804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:47423804delC	ENST00000404338.3	+	1	1872	c.1872delC	c.(1870-1872)gacfs	p.D624fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	624					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAATGATGACAAGTATGTGA	0.448													121	131	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36698721	36698722	+	Splice_Site	DEL	CT	CT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:36698721_36698722delCT	ENST00000216181.5	-	20	2621_2622	c.2391_2392delAG	c.(2389-2394)aaagca>aaca	p.KA797fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	797	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGGCAAATGCTCTGTGTGGTG	0.599			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				39	43	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41523722	41523723	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:41523722_41523723delAC	ENST00000263253.7	+	4	2357_2358	c.1138_1139delAC	c.(1138-1140)acafs	p.T380fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	380					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAACCACATGACACACTGCCAG	0.510			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				55	72	---	---	---	---					
EIF2B3	8891	broad.mit.edu	37	1	45407182	45407182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr1:45407182delT	ENST00000360403.2	-	4	576	c.450delA	c.(448-450)aaafs	p.K150fs	EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTTACCTGCTTTTTTTTTCC	0.358													9	140	---	---	---	---					
NOP14	8602	broad.mit.edu	37	4	2954005	2954006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr4:2954005_2954006insA	ENST00000416614.2	-	6	931_932	c.866_867insT	c.(865-867)ctgfs	p.L289fs	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000314262.6_Frame_Shift_Ins_p.L289fs			P78316	NOP14_HUMAN	NOP14 nucleolar protein	289					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACCCTACCTCCAGCTTCCTGAG	0.559													23	85	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971093	+	Frame_Shift_Del	DEL	CC	CC	-	rs137854599		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr9:21971092_21971093delCC	ENST00000579755.1	-	2	600_601	c.308_309delGG	c.(307-309)gggfs	p.G103fs	CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.G89fs|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGGAAGCCCTCCCGGGCA	0.757		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			17	2	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427030	49427033	+	Frame_Shift_Del	DEL	GGCC	GGCC	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:49427030_49427033delGGCC	ENST00000301067.7	-	39	11454_11457	c.11455_11458delGGCC	c.(11455-11460)ggccccfs	p.GP3819fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCCCTGGGGGCCCAAAGCTCCA	0.676													3	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49433666	49433699	+	Frame_Shift_Del	DEL	GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:49433666_49433699delGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT	ENST00000301067.7	-	31	7853_7886	c.7854_7887delACCTGCACCCGACGGATCCCTCCCCTACCTGTCC	c.(7852-7887)ccacctgcacccgacggatccctcccctacctgtccfs	p.PPAPDGSLPYLS2618fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGCTCCATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAA	0.641													10	21	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													3	4	---	---	---	---					
GPR137C	283554	broad.mit.edu	37	14	53101795	53101798	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr14:53101795_53101798delAACA	ENST00000321662.6	+	7	1252_1255	c.1252_1255delAACA	c.(1252-1257)aacaatfs	p.NN418fs		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	418						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTAGATTTGAACAATCATCATAG	0.382													15	52	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													9	154	---	---	---	---					
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	RNA	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:58090681delT	ENST00000407042.3	-	0	609																											CTCTGAATGATTTTTTTTTTT	0.458													2	4	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	59708e93-e978-4f23-9f0a-7eea1f851fa0	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aaafs	p.K890fs	BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													2	4	---	---	---	---					
