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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MORN1	79906	broad.mit.edu	37	1	2255563	2255563	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2255563C>T	uc001ajb.1	-	12	1291	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	424										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCTGCTCCTCCGTGGCTCTC	0.677000														5			3		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773127	113773127	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:113773127G>A	uc001vsv.3	+	8	1257	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	F7_uc001vsw.3_Silent_p.G380G|F7_uc010tjt.2_Silent_p.G333G	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	402	Peptidase S1.		G -> E (in FA7D).|G -> R (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTGCAAGGGGGACAGTGGAG	0.637000														18			10		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585803	42585803	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:42585803C>T	uc003xpi.1	+	3	444	c.316C>T	c.(316-318)Cca>Tca	p.P106S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	106					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTAAAGTTCCATCAGAATC	0.353000														33			8		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694681	33694681	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:33694681G>A	uc010jvf.2	-	4	952	c.416C>T	c.(415-417)cCg>cTg	p.P139L	IP6K3_uc003ofb.2_Missense_Mutation_p.P139L	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	139					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGCCTTGGCCGGGCTGCGGCG	0.627000														89			19		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913077	54913077	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54913077G>A	uc003dhf.3	+	18	1791	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G487G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.G315G|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	581						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAAAGACGGGGAAGTTTTCCA	0.368000														20			5		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841772	5841772	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5841772C>T	uc010qzp.2	+	0	207	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCTCTCCTTCACTGATG	0.537000														101			46		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257398	77257398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:77257398C>T	uc004aji.3	+	3	386	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q102*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	113	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						gaagcaccagcagcggctgca	0.562000														45			19		0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151288	73151288	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73151288A>G	uc003tzb.3	-	4	849	c.786T>C	c.(784-786)ttT>ttC	p.F262F	ABHD11_uc003tza.3_Silent_p.F149F|ABHD11_uc011kfb.2_Silent_p.F205F|ABHD11_uc003tzc.3_Silent_p.F255F	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CACCAAGGAGAAAGAGTGTTG	0.592000														84			26		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573559	140573559	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140573559A>T	uc003lix.3	+	0	1608	c.1434A>T	c.(1432-1434)agA>agT	p.R478S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACAGAGACTCGGGCA	0.667000														203			19		0	0	1	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98985884	98985884	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:98985884G>A	uc001knb.3	-	11	1526	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	ARHGAP19_uc001kmy.3_Intron|ARHGAP19_uc001kna.3_Missense_Mutation_p.L485F|ARHGAP19_uc009xvj.3_Missense_Mutation_p.L465F|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.L288F	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	494					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ATCCTTCAGAGAAATCCTAGG	0.413000														18			7		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855624	2855624	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:2855624G>A	uc022aqr.1	-	53	8676	c.8286C>T	c.(8284-8286)ttC>ttT	p.F2762F	CSMD1_uc011kwj.2_Silent_p.F2092F|CSMD1_uc010lrg.3_Silent_p.F773F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2763	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGCAGGTGAAATTCACGA	0.557000														55			19		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324492	24324492	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:24324492C>T	uc003xeb.3	+	5	683	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ADAM7_uc003xea.1_Silent_p.S190S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAAGACTCCAAAATAAAAG	0.348000														54			18		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619357	52619357	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52619357T>C	uc002pym.3	-	3	1343	c.1060A>G	c.(1060-1062)Aaa>Gaa	p.K354E	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACATCACATTTATATGGTTTC	0.408000														96			37		0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220406443	220406443	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220406443G>A	uc002vmc.4	-	1	1010	c.783C>T	c.(781-783)ccC>ccT	p.P261P	CHPF_uc010zlh.2_Silent_p.P99P|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	261						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTTCCAGGTGGGGGCGCAGTT	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			3		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714878	4714878	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:4714878G>A	uc003bqc.3	+	19	2568	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ITPR1_uc021wsi.1_Missense_Mutation_p.E755K|ITPR1_uc021wsj.1_Missense_Mutation_p.E740K|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	755					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCCATCAACGAAATCTCAGG	0.542000														20			6		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261147	134261147	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:134261147G>C	uc011kpr.2	+	8	1089	c.790G>C	c.(790-792)Gag>Cag	p.E264Q		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	264							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CAAGATTAAGGAGATTGCTGC	0.448000														31			8		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671215	127671215	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:127671215G>A	uc003kuu.3	-	28	4218	c.3779C>T	c.(3778-3780)tCa>tTa	p.S1260L	FBN2_uc003kuv.2_Missense_Mutation_p.S1227L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1260	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTCCCTCTGAATTTGTGCA	0.453000														78			32		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678378	130678378	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:130678378G>A	uc011muw.2	+	0	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGCCACAGCAGAGTGCCTCCT	0.527000														20			34		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732336	152732337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152732336_152732337CC>TT	uc001fal.1	+	1	330_331	c.272_273CC>TT	c.(271-273)acc>aTT	p.T91I	KPRP_uc021ozf.1_Missense_Mutation_p.T91I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	91	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCTAAGACCACCCAGGTGA	0.559000														145			41		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075226	113075226	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:113075226C>T	uc021qqp.1	+	3	712	c.340_splice	c.e3+1	p.Q114_splice	NCAM1_uc001pno.3_Splice_Site|NCAM1_uc001pnp.3_Splice_Site_p.Q114_splice|NCAM1_uc021qqo.1_Splice_Site_p.Q114_splice|NCAM1_uc001pnq.3_Splice_Site_p.Q114_splice|NCAM1_uc001pnr.3_Splice_Site_p.Q114_splice	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	116					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.Q106*(1)|p.Q115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAGATCTTTCGTAAGAGCCT	0.517000														11			20		0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334108	39334108	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:39334108G>A	uc002hwd.3	-	0	353	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	103	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.R102H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCCACAGCTGGGGCGGCAGC	0.662000														69			32		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391605	125391605	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125391605C>T	uc011lyz.2	-	0	210	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCATGTCTATCACAGAGAGGC	0.542000														25			17		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011567	68011567	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:68011567G>A	uc002evc.4	-	5	1091	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	DPEP3_uc010cex.3_Silent_p.L333L	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	308					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGAAGCTGCAGGATATCATCG	0.512000														6			7		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304474	114304474	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:114304474C>T	uc004bff.2	+	5	1483	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CGGAAAGATTCATGTCAAGAA	0.383000														60			28		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140027	178140027	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178140027G>A	uc003mjj.3	-	4	1050	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	284					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378000														52			20		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937775	116937775	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:116937775C>T	uc003viz.3	-	3	1044	c.744G>A	c.(742-744)caG>caA	p.Q248Q	WNT2_uc003vja.3_Silent_p.Q152Q	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	248					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTGCCATCCTGGTTCATGA	0.502000														59			20		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748208	41748208	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:41748208G>A	uc003gwf.4	-	2	921	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	187					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CAGTGCTCTTGGCCTCTTTGC	0.711000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					40			13		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39449176	39449176	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:39449176A>G	uc003cjq.3	+	1	117	c.32A>G	c.(31-33)aAg>aGg	p.K11R	RPSA_uc003cjp.3_Missense_Mutation_p.K11R|SNORA6_uc003cjs.1_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	11					cell adhesion|endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ctgcaaatgaaggagGAGGAT	0.423000														20			10		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021041	5021041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5021041C>T	uc010qyu.2	+	0	829	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCACATCCTCATGGCAGA	0.453000														40			17		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63937858	63937858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:63937858C>T	uc002amp.3	-	55	11050	c.10902G>A	c.(10900-10902)tgG>tgA	p.W3634*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3634					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGTAGGGTCCCACTTCATGC	0.383000														6			3		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790760	4790760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4790760C>T	uc010qyl.2	-	0	388	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	130						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCAGAGGGTCACAGATGGCC	0.408000														43			16		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71870278	71870278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:71870278C>T	uc004eax.4	-	12	1587	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K	PHKA1_uc004eay.4_Missense_Mutation_p.R429K|PHKA1_uc011mqi.2_Missense_Mutation_p.R429K	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	429					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTAGAAAACCTGCGATTCAG	0.378000														8			10		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62132152G>A	uc002jdz.2	-	13	1822	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000														23			3		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233347	43233347	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43233347G>A	uc002oue.3	-	4	1303	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Missense_Mutation_p.L391F	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	391	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.G390W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAAGCATAGAGCCCGCTATGC	0.458000														142			56		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23319537	23319537	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:23319537A>G	uc001irm.4	+	16	2141	c.2058A>G	c.(2056-2058)ggA>ggG	p.G686G	ARMC3_uc010qcv.2_Silent_p.G679G|ARMC3_uc010qcw.2_Silent_p.G423G	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	686							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						aaagcaaaggaaaaaaagaag	0.388000														8			7		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191256	77191256	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:77191256C>T	uc001syk.1	+	1	299	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Intron	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	46					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATATGGTGAACCTCTTGGACG	0.363000														23			13		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716104	50716104	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50716104G>A	uc003bkv.4	-	32	5205	c.5112C>T	c.(5110-5112)gtC>gtT	p.V1704V	PLXNB2_uc003bkt.1_Silent_p.V496V|PLXNB2_uc003bku.1_Silent_p.V689V	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1704					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTCGTGGACATGCACGT	0.622000														75			18		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081249	143081249	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:143081249G>A	uc003qjd.3	-	8	6919	c.6176C>T	c.(6175-6177)tCa>tTa	p.S2059L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2059	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTCTTTGGTGAATTATCTCG	0.473000														51			30		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022610	20022610	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:20022610C>T	uc011kyq.2	-	9	1338	c.867G>A	c.(865-867)aaG>aaA	p.K289K	SLC18A1_uc003wzm.3_Silent_p.K289K|SLC18A1_uc011kyr.2_Silent_p.K289K|SLC18A1_uc003wzn.3_Silent_p.K289K|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	289					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGGGAGTCCCCTTGGCACTCT	0.468000														55			28		0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969529	103969529	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:103969529C>T	uc003vce.3	+	0	426	c.302C>T	c.(301-303)cCc>cTc	p.P101L	LHFPL3_uc003vcf.3_Missense_Mutation_p.P101L|JA682610_uc022ajt.1_5'Flank	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	87						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCCACGCTGCCCTCGGGCGCC	0.582000														56			19		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401350	140401350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:140401350G>A	uc003eto.2	+	1	594	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	130						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAGGTGGATGAAGTAAAGTC	0.567000														43			21		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657478	143657478	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143657478G>A	uc003wds.1	+	0	459	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CATGCATGGAGGGCTGTGTGC	0.557000														51			18		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817134	52817134	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52817134G>A	uc003dfs.3	+	8	1122	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.L222L|ITIH1_uc021wzg.1_Silent_p.L76L|ITIH1_uc021wzh.1_Silent_p.L76L|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	364	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCTTTTCCCTGGATGAGGGTA	0.542000														13			6		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100515259	100515259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:100515259C>T	uc003dun.3	-	20	1886	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	ABI3BP_uc003duj.3_Missense_Mutation_p.E156K|ABI3BP_uc003duk.3_Missense_Mutation_p.E285K|ABI3BP_uc003dul.3_Missense_Mutation_p.E406K|ABI3BP_uc011bhd.2_Missense_Mutation_p.E555K|ABI3BP_uc003dum.3_Intron	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	601	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTACCAGGTTCGCTCTGAGAG	0.318000														28			11		0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151138	69151138	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:69151138A>T	uc003dnr.3	+	1	434	c.325A>T	c.(325-327)Agc>Tgc	p.S109C		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	109					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CATGTTGGCGAGCTATTTCCT	0.468000														55			18		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14080838	14080838	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14080838G>T	uc002mxv.3	-	9	1736	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	RFX1_uc010dzi.2_Missense_Mutation_p.F488L	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	488					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGGCCCATGAAGACGGAGC	0.647000														35			17		8.34094e-07	8.43043e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55839143	55839143	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:55839143C>T	uc010qhy.1	-	17	2449	c.2054G>A	c.(2053-2055)aGc>aAc	p.S685N	PCDH15_uc010qhq.2_Missense_Mutation_p.S685N|PCDH15_uc010qhr.2_Missense_Mutation_p.S680N|PCDH15_uc021pqv.1_Missense_Mutation_p.S680N|PCDH15_uc021pqw.1_Missense_Mutation_p.S692N|PCDH15_uc010qht.2_Missense_Mutation_p.S687N|PCDH15_uc021pqx.1_Missense_Mutation_p.S680N|PCDH15_uc001jjv.1_Missense_Mutation_p.S658N|PCDH15_uc021pqy.1_Missense_Mutation_p.S680N|PCDH15_uc021pqz.1_Missense_Mutation_p.S658N|PCDH15_uc010qhv.1_Missense_Mutation_p.S680N|PCDH15_uc010qhw.1_Missense_Mutation_p.S643N|PCDH15_uc010qhx.1_Missense_Mutation_p.S609N|PCDH15_uc010qhz.1_Missense_Mutation_p.S680N|PCDH15_uc010qia.1_Missense_Mutation_p.S658N|PCDH15_uc001jju.1_Missense_Mutation_p.S680N|PCDH15_uc010qib.1_Missense_Mutation_p.S658N|PCDH15_uc001jjw.3_Missense_Mutation_p.S680N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	680	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGATCAGTGCTTTCCCTGTC	0.428000										HNSCC(58;0.16)				179			60		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843413	123843413	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123843413G>A	uc001lfv.3	+	3	1758	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.V466V|TACC2_uc010qtv.2_Silent_p.V466V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	466						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGGTTGGTGGGACTGGAGA	0.572000														87			40		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	978980	978980	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:978980C>T	uc001ack.2	+	8	1716	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	556	Kazal-like 6.				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)		CTGCGTGTGCCCCTCTGAATG	0.677000														46			17		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962043	73962043	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73962043C>T	uc004eby.3	-	2	2966	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	783					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGTGGAACTCTTAGCAGCCT	0.408000														26			33		0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851854	10851854	+	Silent	SNP	C	T	T	rs139180704		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:10851854C>T	uc002daa.1	+	6	599	c.576C>T	c.(574-576)atC>atT	p.I192I	NUBP1_uc010bum.1_Silent_p.I57I|NUBP1_uc002dab.1_Silent_p.I181I	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	192					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CAGCACACATCGATGGAGCAG	0.587000														37			19		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008431	176008431	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176008431G>A	uc021yie.1	+	16	2180	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	CDHR2_uc003mem.2_Missense_Mutation_p.D636N|CDHR2_uc003men.1_Missense_Mutation_p.D636N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	636	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTTCTCCTTGGACCCTGACAC	0.617000														26			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066247	9066247	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9066247G>A	uc002mkp.3	-	2	21403	c.21199C>T	c.(21199-21201)Cca>Tca	p.P7067S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7069	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						TCTGAGTGTGGAAATCTCTGA	0.502000														67			27		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563628	24563628	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24563628C>T	uc011djo.2	-	15	3050	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_uc011djp.2_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	850					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587000														36			18		0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93650029	93650029	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:93650029G>A	uc021saw.1	-	0	559	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	MOAP1_uc001ybj.3_Missense_Mutation_p.H187Y|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	187					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tgagtagtatgaaacatccag	0.493000														43			20		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124970	119124970	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:119124970G>A	uc004bjn.3	+	17	4828	c.4447G>A	c.(4447-4449)Gag>Aag	p.E1483K	PAPPA_uc011lxq.2_Missense_Mutation_p.E858K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1483	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGTTCCAAACGAGCTCAACAG	0.557000														34			16		0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220226	13220226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13220226G>A	uc002mwj.2	-	10	1616	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y	TRMT1_uc010xmy.1_Missense_Mutation_p.H60Y|TRMT1_uc002mwk.2_Missense_Mutation_p.H427Y|TRMT1_uc002mwl.3_Missense_Mutation_p.H456Y|TRMT1_uc010xmz.1_Missense_Mutation_p.H242Y	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	456							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTTGCAGTGGATGGTGCTG	0.637000														58			28		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102345530	102345530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:102345530C>T	uc003knt.3	+	19	2664	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	PAM_uc003knw.3_Missense_Mutation_p.S764F|PAM_uc003kns.3_Missense_Mutation_p.S657F|PAM_uc003knu.3_Missense_Mutation_p.S764F|PAM_uc011cuz.2_Missense_Mutation_p.S667F|PAM_uc003knv.3_Missense_Mutation_p.S764F|PAM_uc003knz.3_Missense_Mutation_p.S4F	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	764	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATGAACTTTTCCAATGGGGAA	0.393000														47			22		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12211286	12211286	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:12211286G>A	uc003bwm.3	+	12	1340	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	SYN2_uc003bwl.1_Silent_p.G392G|SYN2_uc003bwn.3_Silent_p.G70G	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	396					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CACTGATTGGGGAACATCAGG	0.532000														202			75		0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10600887	10600887	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10600887C>T	uc002gmr.4	-	1	1	c.-60_splice	c.e1-1		C17orf48_uc002gmv.3_5'Flank|C17orf48_uc002gmt.3_5'Flank|C17orf48_uc002gmu.3_5'Flank	NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.						cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCCGCTTCCTCCGGAAGTCGG	0.637000														10			3		0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9727594	9727594	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:9727594G>A	uc002qzx.3	-	4	746	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	209					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CTTTGTATGAGTCTTCATTCA	0.338000														49			12		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000673	14000673	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14000673G>A	uc002mxl.1	-	5	1055	c.996C>T	c.(994-996)tcC>tcT	p.S332S	C19orf57_uc002mxk.1_Silent_p.S214S	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	332					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCCCGAGGGAGGAGCATCCCA	0.662000														21			12		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118957035	118957035	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:118957035C>T	uc010qsr.2	+	0	36	c.36C>T	c.(34-36)tgC>tgT	p.C12C		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	12						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCAGGAGATGCTGCCCAGAGG	0.632000														44			17		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149378	142149378	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142149378G>A	uc010lnw.1	-	0	97	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCAGCAGAGGAGCCCAGGGC	0.592000														34			12		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750299	158750299	+	Missense_Mutation	SNP	C	T	T	rs144020395		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:158750299C>T	uc003lxr.1	-	2	169	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	43	Ig-like C2-type.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	p.G43A(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATTTCTCCAGGGGCATCC	0.507000														28			10		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474134	28474134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:28474134C>T	uc021yrx.1	-	2	364	c.314G>A	c.(313-315)gGa>gAa	p.G105E	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	105					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.G105*(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTGTTTTCCAAACTGGTT	0.463000														51			38		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625419	111625419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:111625419G>A	uc004bdj.1	+	0	817	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	273						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCATCGTGGAGGACATCAA	0.582000														41			20		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927557	119927557	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:119927557C>T	uc001ehr.1	+	3	574	c.442C>T	c.(442-444)Cta>Tta	p.L148L	HAO2_uc001ehq.1_Silent_p.L148L	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	148	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGTAGAATCCCTAGGTTTCAA	0.463000														54			22		0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361903	71361903	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:71361903C>T	uc002sht.2	+	3	1426	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	MPHOSPH10_uc010feb.1_Silent_p.S358S	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	358					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGTTAAATCCTCCTTTGAAA	0.294000														66			22		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228148	72228148	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:72228148G>A	uc002llq.3	+	3	572	c.361G>A	c.(361-363)Gat>Aat	p.D121N	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	121					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACTGGGGAGCGATCCCACGAA	0.572000														88			41		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601062	25601062	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25601062G>A	uc001zaq.3	-	9	2870	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P681S|UBE3A_uc001zas.3_Missense_Mutation_p.P701S|UBE3A_uc001zat.3_Missense_Mutation_p.P681S	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	704					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTGTAATTGGAATTTTATCA	0.299000														41			21		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619503	52619503	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52619503G>A	uc002pym.3	-	3	1197	c.914C>T	c.(913-915)tCc>tTc	p.S305F	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTGACTAAAGGATTTCCCACA	0.408000														42			15		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367831	142367831	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142367831G>A	uc022bby.1	-	0	193	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	GPR20_uc003ywf.3_Silent_p.L65L	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	65						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGCCCTGCCAGGAAGATGGCT	0.652000														22			16		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35752064	35752064	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:35752064G>A	uc010zvu.2	-	15	2015	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	C20orf132_uc002xgk.3_Missense_Mutation_p.P274S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	51										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGGCCACTTGGGATGTCGACA	0.483000														82			15		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521388	131521388	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131521388G>A	uc021voy.1	+	0	1743	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	FAM123C_uc002trw.2_Silent_p.E581E|FAM123C_uc010fmv.2_Silent_p.E581E|FAM123C_uc010fms.1_Silent_p.E581E|FAM123C_uc010fmt.1_Silent_p.E581E|FAM123C_uc010fmu.1_Silent_p.E581E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	581								p.E581*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCGCCGGAGAGAGCAAGGCCC	0.652000														43			11		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940264	22940264	+	Missense_Mutation	SNP	G	A	A	rs74170740		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:22940264G>A	uc021urt.1	-	3	2602	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGATTTCTCTCC	0.348000														16			6		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29385344	29385344	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:29385344C>T	uc001zck.3	+	5	1340	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	APBA2_uc010azj.2_Missense_Mutation_p.S379F|APBA2_uc010uat.2_Missense_Mutation_p.S379F|APBA2_uc001zcl.3_Missense_Mutation_p.S379F|APBA2_uc001zcm.1_Missense_Mutation_p.S83F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	379	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TACCTGGGGTCCACCCAGCTG	0.567000														59			25		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77322884	77322884	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:77322884C>T	uc002bcf.2	+	8	1054	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_Missense_Mutation_p.R80W|PSTPIP1_uc010bku.1_Missense_Mutation_p.R193W|PSTPIP1_uc010bkw.1_Missense_Mutation_p.R202W|PSTPIP1_uc002bci.1_5'Flank	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	202					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	p.R202W(3)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGAGAAGGTCCGGGCTGAGTG	0.642000														28			11		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503688	140503688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140503688C>T	uc003lip.1	+	0	2108	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTCTCGGTGCTCCTG	0.706000														132			42		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90040914	90040914	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:90040914C>T	uc003kju.3	+	50	10697	c.10601C>T	c.(10600-10602)tCg>tTg	p.S3534L	GPR98_uc003kjt.3_Missense_Mutation_p.S1240L|GPR98_uc003kjv.3_Missense_Mutation_p.S1134L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3534					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S3534S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCTGGAATTCGGAGCGTAAT	0.388000														325			76		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884242	153884242	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:153884242C>A	uc003inf.2	+	6	1064	c.989C>A	c.(988-990)gCa>gAa	p.A330E		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	330	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACACAAAAGCAAACAAACCT	0.408000														75			25		2.12542e-12	2.15864e-12	1	1	0
NEFH	4744	broad.mit.edu	37	22	29881793	29881793	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:29881793C>A	uc003afo.3	+	2	1236	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	389	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCAGGACCTGCTCAATGTCAA	0.557000														40			17		1.96292e-10	1.99146e-10	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32190842	32190842	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32190842G>A	uc003obb.3	-	1	234	c.95C>T	c.(94-96)cCa>cTa	p.P32L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P32L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	32	EGF-like 1.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGTTCTGGGAAACTCCC	0.607000														221			61		0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26667480	26667480	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:26667480G>A	uc002hax.2	+	2	370	c.351G>A	c.(349-351)gtG>gtA	p.V117V	TNFAIP1_uc002hay.3_Silent_p.V117V|TNFAIP1_uc010waf.2_Silent_p.V13V	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	117					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGGGCTGGTGAATATGTGCC	0.557000														25			26		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351962	156351962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156351962G>A	uc010pho.2	+	6	1120	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	RHBG_uc010phm.1_Missense_Mutation_p.D194N|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.G292E|RHBG_uc009wrz.3_Missense_Mutation_p.G329E|RHBG_uc001for.3_Missense_Mutation_p.G331E	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	361					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTGTGGCTGGACTTGCCACC	0.542000														86			35		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855405	79855405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79855405C>T	uc010jam.3	-	3	784	c.434G>A	c.(433-435)gGg>gAg	p.G145E	ANKRD34B_uc003kgw.3_Missense_Mutation_p.G145E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G145E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G145E	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	145						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GACCTCTTTCCCTTTTGCCTT	0.403000														91			45		0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42461933	42461933	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:42461933C>T	uc002igt.1	-	7	852	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	274					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCGTCGAACTCGCCCACGGCC	0.582000														47			14		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17265526	17265526	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:17265526C>T	uc001azt.2	+	11	1566	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	CROCC_uc009voy.1_Silent_p.S202S|CROCC_uc009voz.1_Silent_p.S262S|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	499					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCGGCGCTCCTCGCCCGGCC	0.761000														10			5		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														41			18		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853436	143853436	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:143853436G>A	uc003lnm.1	+	3	1675	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	KCTD16_uc003lnn.1_Missense_Mutation_p.G349D	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCAAGAAGGGCCCTGTCCAG	0.572000														53			22		0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603445	28603445	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:28603445C>T	uc002dqg.2	-	7	1143	c.792G>A	c.(790-792)tgG>tgA	p.W264*	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Nonsense_Mutation_p.W264*	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	264					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGGTGGTCTTCCAGTCCCCAG	0.632000														38			10		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967180	72967180	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:72967180C>T	uc004ahr.2	+	24	3356	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L	SMC5_uc011lry.1_Missense_Mutation_p.P225L	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1080					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATGCTGGAACCAAACACATGG	0.373000														74			26		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:69348921C>T	uc010kak.3	+	1	630	c.354C>T	c.(352-354)ttC>ttT	p.F118F	BAI3_uc003pev.4_Silent_p.F118F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000														18			6		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835945	247835945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247835945C>T	uc001idi.1	-	0	399	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGGTGGTTCATAATAGTAC	0.473000														32			19		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089644	86089644	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:86089644G>A	uc021rxf.1	+	0	1786	c.1786G>A	c.(1786-1788)Gac>Aac	p.D596N	FLRT2_uc001xvr.3_Missense_Mutation_p.D596N|FLRT2_uc010atd.3_Missense_Mutation_p.D596N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	596					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.K595*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCAAGAAGGACAACTCCAT	0.483000														107			35		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909868	119909868	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:119909868A>T	uc001txe.3	+	2	705	c.240A>T	c.(238-240)aaA>aaT	p.K80N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	80										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTGCAAAGAAAAAGAAGCAAC	0.433000														82			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779779	140779779	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140779779C>T	uc003lkf.2	+	0	2085	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I695I|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	701					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCTTGATCTCAGTGCTCT	0.622000														140			48		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208219	49208219	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:49208219C>T	uc001ngy.3	-	4	877	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	FOLH1_uc009yly.3_Missense_Mutation_p.G191R|FOLH1_uc009ylz.3_Missense_Mutation_p.G191R|FOLH1_uc001ngz.3_Missense_Mutation_p.G206R|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	206					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAACTTTCCCATATCTGGCA	0.338000														39			17		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373653	7373653	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7373653C>T	uc003mxl.2	-	4	1930	c.1399G>A	c.(1399-1401)Gct>Act	p.A467T	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.A331T|CAGE1_uc003mxj.3_Missense_Mutation_p.A222T|CAGE1_uc003mxk.2_Missense_Mutation_p.A467T	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	467										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAAGCAGAAGCTGTGGCCTTT	0.398000														57			18		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767634	105767634	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:105767634G>A	uc004bbs.2	+	4	791	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	241	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.E241Q(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAAGCAGATGAAAAGAAGGA	0.358000														43			11		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099203	133099203	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:133099203C>T	uc003epi.3	+	3	918	c.648C>T	c.(646-648)atC>atT	p.I216I	TMEM108_uc003eph.3_Silent_p.I216I|TMEM108_uc003epj.1_Silent_p.I216I|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	216						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGGGAAAATCTTTCAGATCT	0.602000														39			17		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433851	72433851	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:72433851C>T	uc004ebi.3	-	0	860	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	160	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGTAGGTTCATAGATTGCA	0.383000														27			46		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814336	14814336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:14814336G>A	uc003byy.3	+	16	3121	c.2669G>A	c.(2668-2670)aGg>aAg	p.R890K	C3orf20_uc003byz.3_Missense_Mutation_p.R768K|C3orf20_uc003bza.3_Missense_Mutation_p.R768K|C3orf20_uc003bzb.1_3'UTR|C3orf20_uc011avj.2_Missense_Mutation_p.R217K	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	890						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTCTCAGCAGGGACAGCAAG	0.592000														33			7		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248751	20248751	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20248751G>A	uc010tku.2	+	0	270	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGAGAGGAAGATAATTTCCT	0.448000														485			61		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193083	104193083	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:104193083C>T	uc004bbk.2	-	1	169	c.87G>A	c.(85-87)ggG>ggA	p.G29G		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	29					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CAGCCAGGATCCCCTTTCCAT	0.448000														34			14		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049085	21049085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21049085G>A	uc010vbe.2	-	33	4948	c.4948C>T	c.(4948-4950)Cag>Tag	p.Q1650*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1650					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTACATACCTGAAACAGAGGG	0.502000														16			8		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57473463	57473463	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:57473463C>T	uc004dvc.3	+	8	1368	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	407						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTACACCATCCCTTCCATTGG	0.398000										HNSCC(52;0.14)				7			6		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635004	33635004	+	Silent	SNP	C	T	T	rs141133607		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:33635004C>T	uc001uus.3	+	3	1796	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	596	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCGCTTCTCCCTGGACTGGG	0.532000														68			21		0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102896658	102896658	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:102896658G>A	uc001ksw.3	+	2	1219	c.981G>A	c.(979-981)tcG>tcA	p.S327S	TLX1_uc021pxd.1_3'UTR	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	327						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGTGGCGTCGGCCTGCGAGT	0.647000			T	"""TRB@, TRD@"""	T-ALL									21			12		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:44333576C>T	uc002xpc.3	-	0	83	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000														104			77		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875727	247875727	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247875727C>T	uc001idj.1	-	0	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110S(2)|p.T110R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAAGTACTCTGTGCAGCCT	0.498000														47			33		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234154	21234154	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21234154C>T	uc002red.3	-	25	5714	c.5586G>A	c.(5584-5586)gtG>gtA	p.V1862V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1862					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1861V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCTAAACTCCACACCCTGAA	0.443000														311			139		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140515442C>T	uc003liq.3	+	0	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438000														64			20		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77328215	77328215	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:77328215T>G	uc002bcf.2	+	13	1508	c.1058T>G	c.(1057-1059)aTa>aGa	p.I353R	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010bku.1_Missense_Mutation_p.I344R|PSTPIP1_uc010bkw.1_Missense_Mutation_p.I334R|PSTPIP1_uc002bci.1_Non-coding_Transcript	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	353					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GTGCAGGAGATACAGGGAAAC	0.612000														20			3		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8140033	8140033	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:8140033A>T	uc002mjf.3	-	59	7641	c.7624T>A	c.(7624-7626)Tgt>Agt	p.C2542S	FBN3_uc002mje.3_Missense_Mutation_p.C338S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2542	EGF-like 42; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTTCTGACAGCCATGCTGG	0.607000														87			28		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102055947	102055947	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:102055947A>G	uc001kqx.1	-	6	1671	c.1288T>C	c.(1288-1290)Ttc>Ctc	p.F430L	PKD2L1_uc009xwm.1_Missense_Mutation_p.F383L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	430					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.F430F(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGGCGAGGAACTCAAAGTCT	0.532000														50			22		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413547	124413547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:124413547C>T	uc010sam.2	-	0	4	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTTGGCTGCCATTCTTTTT	0.493000														28			21		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542042	133542042	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:133542042G>A	uc002ttp.3	-	13	2716	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	781							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTCTGGCATGATATATTGTG	0.453000														57			58		0	0	1	0	0
CDK5R2	8941	broad.mit.edu	37	2	219824873	219824873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:219824873C>T	uc002vjf.3	+	0	476	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 2 (p39) (CDK5R2), mRNA.	111					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCGGGATCCCCCCGACGG	0.746000														1			4		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208096	54208096	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:54208096G>A	uc003pcj.2	+	4	843	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	233					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGACTCATGGCCCATTGGA	0.388000														33			17		0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44109528	44109529	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:44109528_44109529GG>AA	uc001zth.1	-	1	381_382	c.197_198CC>TT	c.(196-198)gcc>gTT	p.A66V		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	66						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTGTTCTTTGGCTTTCTTAAT	0.470000														84			31		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134017385	134017385	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:134017385C>T	uc009ybb.3	+	12	1735	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	527					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCAAGATCTCCGTCCCTCCTG	0.677000														63			29		0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58003535	58003536	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58003535_58003536CC>TT	uc010ety.1	+	3	497_498	c.257_258CC>TT	c.(256-258)ccc>cTT	p.P86L	ZNF419_uc002qov.2_Missense_Mutation_p.P85L|ZNF419_uc010etz.1_Missense_Mutation_p.P73L|ZNF419_uc002qow.2_Intron|ZNF419_uc010eua.1_Missense_Mutation_p.P72L|ZNF419_uc010eub.1_Intron|ZNF419_uc010euc.1_Intron	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGGGAGGAGCCCTTCATGCCTG	0.510000														50			14		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96136854	96136854	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:96136854C>T	uc001yep.1	+	7		c.1653C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CGAGTCACGTCCTTTTTTCCT	0.493000			T	TRA@	T-ALL									22			3		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244150	8244150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:8244150G>A	uc002knn.4	+	14	2898	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	PTPRM_uc010dkv.3_Missense_Mutation_p.G799S|PTPRM_uc010wzl.2_Missense_Mutation_p.G586S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	799					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCTGAGCAGGGCACAAACTG	0.488000														72			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390765	82390765	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82390765C>T	uc003uhx.2	-	22	15341	c.15052G>A	c.(15052-15054)Gaa>Aaa	p.E5018K		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4941	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTTCATTTCCTTCTTCAAT	0.313000														19			9		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813289	176813289	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176813289C>T	uc003mgk.4	+	3	431	c.327C>T	c.(325-327)acC>acT	p.T109T	SLC34A1_uc021yis.1_Silent_p.T109T	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	109					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATGCTCACCTTCCTCTACC	0.642000														68			26		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436040	5436040	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:5436040C>T	uc001ihy.3	-	3	819	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TUBAL3_uc001ihz.3_Missense_Mutation_p.E221K	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	261					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTCTGGAATTCAATTAGGTCT	0.507000														105			40		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088300	17088300	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17088300G>A	uc002nfb.3	-	14	1809	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	546						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACGGCCAGATGAAGAGAGGTC	0.587000														38			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077142	9077142	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9077142C>T	uc002mkp.3	-	2	10508	c.10304G>A	c.(10303-10305)gGg>gAg	p.G3435E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3436	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						GATGTCACTCCCAGATGTCTG	0.458000														77			38		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25194660	25194660	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:25194660C>T	uc003sxn.1	-	5	1126	c.565G>A	c.(565-567)Gct>Act	p.A189T		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	189										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAATCATAAGCCTTGGTTGGC	0.453000														25			16		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95537348	95537348	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95537348C>T	uc001kjc.4	+	3	741	c.405C>T	c.(403-405)ttC>ttT	p.F135F	LGI1_uc021pwk.1_Silent_p.F135F|LGI1_uc010qnv.2_Intron|LGI1_uc009xui.3_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	135					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GACATACTTTCCGGGGACTAA	0.323000														21			9		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35434313	35434313	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:35434313T>C	uc021wcx.1	-	8	3202	c.2862A>G	c.(2860-2862)atA>atG	p.I954M	SOGA1_uc002xgd.1_Missense_Mutation_p.I716M	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	716										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTGAGCGTTTATCTCCTCTT	0.483000														28			9		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765491	19765491	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19765491G>A	uc002nnh.4	-	12	1702	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	ATP13A1_uc002nne.3_5'Flank|ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.T440T	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	558					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACACTGGGGTCACCTCCT	0.637000														37			19		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39505881	39505881	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:39505881G>A	uc003xni.3	+	11	1120	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Silent_p.K331K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	355	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTGGTAGAAAGATTTTTAGCA	0.333000														28			12		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018899	143018899	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143018899C>T	uc003wcr.1	+	4	741	c.654C>T	c.(652-654)gcC>gcT	p.A218A	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.A66A	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	218					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGTTGTCGCCCTGACTGCGG	0.587000														30			10		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724953	7724953	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:7724953C>T	uc001aoi.3	+	8	2553	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S782S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTTCATCTCCGTGGAGGGGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma									178			93		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098652	155098652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:155098652C>T	uc002tyt.4	+	2	525	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GALNT13_uc002tyr.4_Missense_Mutation_p.R141C|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	141	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N140Y(1)|p.N140I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGATAAATCGTTCCCCACA	0.373000														18			25		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963686	1963686	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:1963686G>A	uc010gaj.3	-	1	287	c.45C>T	c.(43-45)ttC>ttT	p.F15F	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.F15F|PDYN_uc021vzt.1_Silent_p.F15F|PDYN_uc021vzu.1_Silent_p.F15F|PDYN_uc002wfv.3_Silent_p.F15F	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	15					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTGGAGGGGAACATGAGGA	0.562000														31			17		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102710968	102710968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:102710968G>A	uc001phj.1	-	5	871	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	269					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S269F(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGTCTCAGGGGAGTCAGGGGG	0.517000														59			20		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27279648	27279649	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27279648_27279649GG>AA	uc002rie.3	+	7	1740_1741	c.1523_1524GG>AA	c.(1522-1524)ggg>gAA	p.G508E	AGBL5_uc002rid.3_Missense_Mutation_p.G508E|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	508					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCCTCAGGGATAATCCACA	0.485000														87			32		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905976	5905976	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5905976G>A	uc010qzs.2	+	0	454	c.454G>A	c.(454-456)Gga>Aga	p.G152R	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTGTTGGAAGAAATTT	0.463000														69			27		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023579	6023579	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6023579A>T	uc010qzv.2	-	0	800	c.800T>A	c.(799-801)aTc>aAc	p.I267N		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAATAAGGATAAGATCAGA	0.468000														22			5		0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201383661	201383661	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:201383661G>A	uc021phe.1	-	3	174	c.174C>T	c.(172-174)tcC>tcT	p.S58S	TNNI1_uc021phd.1_Silent_p.S37S|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Silent_p.S37S	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	58					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GGGCACTGAGGGACAGGCCAC	0.687000														20			3		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251006	83251006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:83251006C>T	uc001szt.3	+	1	733	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	TMTC2_uc001szr.1_Missense_Mutation_p.L101F|TMTC2_uc001szs.1_Missense_Mutation_p.L101F|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	101						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTCACTGGTCTCTTCACAAG	0.507000														74			36		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497502	34497502	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:34497502G>A	uc003ojo.3	+	5	930	c.672G>A	c.(670-672)atG>atA	p.M224I	PACSIN1_uc003ojp.3_Missense_Mutation_p.M224I	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	224					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCCAGTACATGGAGAACATGG	0.542000														22			17		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72643491	72643491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:72643491G>A	uc002aun.4	-	5	862	c.655C>T	c.(655-657)Cca>Tca	p.P219S	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P230S|HEXA_uc010bix.3_Missense_Mutation_p.P219S|HEXA_uc010biy.2_Missense_Mutation_p.P82S|HEXA_uc010uko.1_Missense_Mutation_p.P45S	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	219					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATGAGCTCTGGAAAAGTGAAG	0.468000														40			21		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655026	142655026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142655026G>A	uc003wcb.3	-	5	770	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	187					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517000														31			16		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170689	159170689	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159170689G>A	uc001ftl.2	+	8	1353	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	CADM3_uc001ftk.2_Missense_Mutation_p.D426N|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	392					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R391R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612000														59			17		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20268552	20268552	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:20268552G>A	uc010cqy.1	+	11		c.2719G>A								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						GGTTGTGAAAGAAAAGAATGA	0.338000														20			7		0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874201	31874201	+	Missense_Mutation	SNP	C	T	T	rs73186218	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:31874201C>T	uc011ada.2	-	0	208	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	70						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CAATAAAATCCAGAGAATCCA	0.502000														59			24		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058188	81058188	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81058188A>C	uc001kaf.2	+	14	2089	c.1517A>C	c.(1516-1518)aAt>aCt	p.N506T	ZMIZ1_uc001kag.2_Missense_Mutation_p.N382T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	506	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTGTGGCAAATTACCCCCAC	0.592000														115			45		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612060	142612060	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142612060C>T	uc003wby.1	-	10	1707	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	481					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.M481I(2)|p.I480V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTTCTGGATCATGATGGTGA	0.552000														46			12		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76958673	76958673	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:76958673C>T	uc003ugf.3	-	20	1789	c.1710G>A	c.(1708-1710)agG>agA	p.R570R	PION_uc003ugd.3_5'Flank|PION_uc003ugg.1_3'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	570					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAAGAATATTCCTCACGTATG	0.373000														30			4		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148514333	148514333	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:148514333C>T	uc003wfd.2	-	10	1569	c.1376G>A	c.(1375-1377)gGg>gAg	p.G459E	EZH2_uc022aov.1_Missense_Mutation_p.G420E|EZH2_uc011kug.2_Missense_Mutation_p.G450E|EZH2_uc003wfb.2_Missense_Mutation_p.G464E|EZH2_uc003wfc.2_Missense_Mutation_p.G420E|EZH2_uc011kuh.2_Missense_Mutation_p.G450E|EZH2_uc011kui.2_3'UTR	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	459					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTTGGTCCCAATTAACCT	0.388000			Mis		DLBCL									19			4		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663498	167663498	+	Missense_Mutation	SNP	G	A	A	rs145248380		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:167663498G>A	uc001gem.3	+	4	620	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RCSD1_uc010pli.2_Missense_Mutation_p.D115N	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	145										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TGTCAGCTTCGACCAGCCCCC	0.582000														20			12		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749796	74749796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:74749796G>A	uc010yrw.2	-	7	1571	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	DQX1_uc002smc.3_Missense_Mutation_p.P30L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	469						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGGCCAGAGGGAATTCTGA	0.547000														135			51		0	0	1	0	0
THOC7	80145	broad.mit.edu	37	3	63823651	63823651	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:63823651C>T	uc003dlt.4	-	4	483	c.352_splice	c.e4+1	p.E118_splice	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Splice_Site_p.E55_splice	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	118	Interaction with NIF3L1.|Interaction with THOC5.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AAAACCCTTACCTTGGCGATT	0.358000														63			25		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182339713	182339713	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:182339713A>T	uc002unu.3	+	2	1109	c.346A>T	c.(346-348)Aag>Tag	p.K116*	ITGA4_uc010zfl.1_Nonsense_Mutation_p.K116*	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	116					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.K116N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACCTTGTGGAAAGACTTGTTT	0.413000														20			24		0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474333	160474333	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:160474333G>A	uc003fdr.3	+	0	338	c.237G>A	c.(235-237)gaG>gaA	p.E79E		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	79					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATGTGCTCGAGGCCGAGTTTT	0.582000														24			12		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17191264	17191264	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:17191264C>T	uc001mmq.4	-	0	90	c.25G>A	c.(25-27)Gga>Aga	p.G9R	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.G9R|PIK3C2A_uc009ygv.1_Missense_Mutation_p.G9R	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	9	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TCTTTAAATCCGCTGTTGCTA	0.393000														47			15		0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71803557	71803557	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:71803557C>T	uc010cgg.3	-	5	925	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	AP1G1_uc021tkz.1_5'UTR|AP1G1_uc002fbb.3_Missense_Mutation_p.R227Q|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc010vmh.1_Missense_Mutation_p.R286Q|AP1G1_uc021tky.1_Missense_Mutation_p.R204Q	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	204					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTCTGGGCTTCGCTCACACAT	0.383000														34			26		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48605326	48605326	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48605326G>A	uc003gyh.1	-	11	1519	c.914C>T	c.(913-915)tCg>tTg	p.S305L	FRYL_uc003gyk.3_Missense_Mutation_p.S305L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S304S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCTTTCTCGAGCTCAGTTC	0.289000														39			14		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598148	93598148	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:93598148G>A	uc003drb.4	-	12	1844	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	PROS1_uc010hoo.3_Silent_p.S370S|PROS1_uc003dqz.4_Silent_p.S370S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	501	Laminin G-like 2.		S -> A (in PROS1D).|S -> P (variant Heerlen; could be associated with PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCAGCACTGGATACATTAT	0.398000														91			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257122	140257122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140257122C>T	uc003lic.2	+	0	2192	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P689S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	697	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGATCCCGAAGCGGC	0.652000														39			13		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139091705	139091705	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:139091705G>A	uc004cgz.3	-	2	407	c.288C>T	c.(286-288)gcC>gcT	p.A96A	LHX3_uc022bpm.1_Missense_Mutation_p.R113C|LHX3_uc004cha.3_Silent_p.A91A	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	91	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCTGGCACGCGGCGCACTTGG	0.711000														10			6		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434518	79434518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:79434518G>A	uc001xun.3	+	10	2343	c.1852G>A	c.(1852-1854)Gat>Aat	p.D618N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.D743N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	222					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTTCCAGGTGATCTCTATAT	0.448000														31			15		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009409	46009409	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46009409G>A	uc011bal.1	-	6	1529	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	FYCO1_uc003cpb.4_Silent_p.L473L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	473					transport	integral to membrane	metal ion binding|protein binding	p.R472Q(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AACTCCTGCAGCCGTCGCCAG	0.637000														88			25		0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136019952	136019952	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:136019952C>T	uc011bmc.2	+	10	1077	c.1026_splice	c.e10+1	p.S342_splice	PCCB_uc003eqz.1_Splice_Site_p.S322_splice|PCCB_uc003eqy.2_Splice_Site_p.S322_splice|PCCB_uc011bmd.1_Splice_Site_p.S239_splice	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	322	Acyl-CoA binding (Potential).|Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATCATACACTCTGTAAGTGCC	0.488000														29			8		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54926178	54926178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:54926178G>A	uc002iur.3	+	5	1190	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	DGKE_uc002ius.1_Missense_Mutation_p.R337Q	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R337Q(2)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGGTTTTGCGAAATGTAATG	0.408000														35			56		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39514386	39514386	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:39514386G>A	uc001wup.1	-	15	2103	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	SEC23A_uc010tqa.1_Missense_Mutation_p.S513F|SEC23A_uc010tqb.1_Missense_Mutation_p.S598F	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	627					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCACTAAAAGAATACGCATA	0.358000														25			16		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044254	146044254	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:146044254C>T	uc003ijx.3	+	13	1785	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	ABCE1_uc003ijy.3_Silent_p.L449L|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	449	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATGAAGCCTCTGCAAATTGA	0.299000														30			11		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795245	100795245	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:100795245C>T	uc001yhc.3	+	4	583	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SLC25A47_uc001yhd.3_Silent_p.A24A	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	170					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCACGGTAGCCCGTGAGGAGG	0.687000														38			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010664	9010664	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9010664G>A	uc002mkp.3	-	37	39201	c.38997C>T	c.(38995-38997)tcC>tcT	p.S12999S	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13001					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						GGCTGGGGAGGGAGGATGGAG	0.488000														26			6		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335034	78335034	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:78335034C>T	uc010thy.1	+	5	1037	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	SLAIN1_uc001vkk.2_Missense_Mutation_p.L255F|SLAIN1_uc010thz.1_Missense_Mutation_p.L210F|SLAIN1_uc001vkl.1_Missense_Mutation_p.L211F|SLAIN1_uc010aex.1_Missense_Mutation_p.L97F|SLAIN1_uc010aey.1_Missense_Mutation_p.L97F|SLAIN1_uc001vkm.2_Missense_Mutation_p.L211F	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	474										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CCGACAGCCTCTTAAAGCCAC	0.498000														53			31		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040382	88040382	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:88040382G>A	uc003dqr.2	+	1	641	c.483G>A	c.(481-483)tgG>tgA	p.W161*	HTR1F_uc021xbd.1_Nonsense_Mutation_p.W161*	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	161					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTCTATTCTGGAGGCACCAAG	0.418000														21			16		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172263	95172263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:95172263C>T	uc003ygh.2	-	11	1612	c.1487G>A	c.(1486-1488)aGt>aAt	p.S496N	CDH17_uc011lgo.1_Missense_Mutation_p.S282N|CDH17_uc011lgp.1_Missense_Mutation_p.S496N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	496	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCGTCCCTCACTGTCTCCCTT	0.413000														61			33		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154805	100154805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:100154805G>A	uc001dsg.3	+	6	1432	c.989G>A	c.(988-990)cGa>cAa	p.R330Q		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	330					regulation of cell shape	cytoplasm|membrane		p.R330R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCTCATCCCCGATCAGTGATT	0.468000														34			7		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7229506C>T	uc003mxb.3	+	9	1666	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	RREB1_uc021yky.1_Nonsense_Mutation_p.Q392*|RREB1_uc003mxc.3_Nonsense_Mutation_p.Q392*|RREB1_uc010jnx.3_Nonsense_Mutation_p.Q392*|RREB1_uc021ykz.1_Nonsense_Mutation_p.Q392*|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	392					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622000														27			19		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439634	145439635	+	Missense_Mutation	DNP	GG	AA	AA	rs149337508	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145439634_145439635GG>AA	uc003lnt.3	+	8	1999_2000	c.1761_1762GG>AA	c.(1759-1764)aggggc>agAAgc	p.G588S	SH3RF2_uc011dbl.1_Missense_Mutation_p.G588S|SH3RF2_uc011dbm.1_Missense_Mutation_p.G73S|SH3RF2_uc003lnu.3_Missense_Mutation_p.G79S|SH3RF2_uc011dbn.1_Missense_Mutation_p.G79S|SH3RF2_uc011dbo.2_Missense_Mutation_p.G45S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	588							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAGCAGGGGCAGTGAGGC	0.644000														36			14		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002026	98002026	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98002026C>T	uc003dsj.1	+	0	295	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GATGATATCTCTGTCTGAATG	0.373000														105			34		0	0	1	0	0
C16orf73	254528	broad.mit.edu	37	16	1889285	1889285	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:1889285T>C	uc010uvq.1	-	11	1384	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	FAHD1_uc002cnd.3_3'UTR|FAHD1_uc010brz.3_Missense_Mutation_p.L220P|C16orf73_uc002cne.2_Missense_Mutation_p.S397G|C16orf73_uc010uvr.2_Missense_Mutation_p.S190G	NM_001163560	NP_001157032	Q8N635	CP073_HUMAN	Homo sapiens chromosome 16 open reading frame 73 (C16orf73), transcript variant 1, mRNA.	397					meiosis	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TCAGCAACACTTCCTGTGAGA	0.393000														24			13		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25899713	25899713	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:25899713C>T	uc003xes.2	-	1	451	c.186G>A	c.(184-186)agG>agA	p.R62R	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Silent_p.R62R	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	62	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGGATTTCCTCAAGTTGG	0.582000														42			10		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31299667G>A	uc003jhe.2	+	4	1100	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_uc003jhd.2_Missense_Mutation_p.G247E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000														65			16		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654982	19654982	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19654982G>A	uc002nmw.4	+	7	1731	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	CILP2_uc002nmv.4_Missense_Mutation_p.R543Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	543						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.R543L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTTGATCCTCGAGGTGCCGGC	0.607000														50			21		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936994	13936994	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:13936994C>T	uc001avd.3	+	2	591	c.542C>T	c.(541-543)gCc>gTc	p.A181V	PDPN_uc001avc.3_Missense_Mutation_p.A181V|PDPN_uc009vob.3_Missense_Mutation_p.A63V|PDPN_uc009voc.3_Missense_Mutation_p.A63V|PDPN_uc001ave.3_Missense_Mutation_p.A63V|PDPN_uc001avf.3_Missense_Mutation_p.A63V	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	105					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TCAAACGTGGCCACCAGTCAC	0.493000														57			9		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680484	72680484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:72680484C>T	uc001sxa.3	+	1	833	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	268					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTCAGTTTTCGCCTACACAT	0.363000														56			34		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736640	141736640	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141736640C>T	uc003vwy.3	+	17	2148	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	698	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCTGCCTCCTTTGGAGCTG	0.502000														171			56		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17062058	17062058	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:17062058C>T	uc002gqv.2	+	13	1877	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	MPRIP_uc002gqu.2_Silent_p.F596F|MPRIP_uc002gqw.2_Silent_p.F351F	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	596	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding	p.R587_G597delRRREERRKRFG(2)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAAGCGCTTCGGGATGCTCG	0.711000														24			10		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87483547	87483547	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87483547T>C	uc003uje.3	-	4	611	c.236A>G	c.(235-237)aAg>aGg	p.K79R		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	79					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTGGCTTCTTATACCATAG	0.313000														49			15		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561831	145561831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:145561831G>A	uc001eob.1	+	9	1627	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	ANKRD35_uc010oyx.1_Missense_Mutation_p.D350N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	507										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAGAAAAGGATGCTGCCCG	0.622000														115			41		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61490981	61490981	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:61490981G>A	uc001nsa.3	+	4	601	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	162					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCACGGGCCGCACCTTTGTC	0.617000														95			4		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40099190	40099190	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:40099190G>A	uc003guy.4	+	3	567	c.229_splice	c.e3+1	p.V77_splice	N4BP2_uc010ifq.3_Splice_Site	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	77	CUE.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GATTTCAAAGGTGAGAAAAAG	0.323000														17			6		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640920	142640920	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142640920G>A	uc003wcb.3	-	13	1752	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	514					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TAGCTCGGAGGGACCGGACAC	0.562000														33			8		0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304743	21304743	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:21304743G>A	uc011lnh.2	-	0	570	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.398000														78			49		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765107	61765107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:61765107G>A	uc003xue.3	+	29	6437	c.5945G>A	c.(5944-5946)gGg>gAg	p.G1982E	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1982					T cell differentiation|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|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			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)			TCCACCTTTGGGGTTATTTTT	0.388000														18			8		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37818899	37818899	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:37818899G>A	uc003chd.3	+	23	2611	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	853					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAAGAGAAGGGAAACTGCTCT	0.433000														41			17		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547173	35547173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35547173G>A	uc003zww.3	+	1	910	c.655G>A	c.(655-657)Gat>Aat	p.D219N	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.D219N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	219						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGCCAGCGATACCTCTGG	0.617000														62			13		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51571217	51571217	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:51571217C>T	uc010lxy.1	+	15	1403	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	SNTG1_uc003xqs.1_Silent_p.I344I|SNTG1_uc010lxz.1_Silent_p.I344I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	344	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTGCAAGATCCTCAAGGTAT	0.368000														32			7		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913278	88913279	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:88913278_88913279GG>AA	uc002stc.4	-	1	703_704	c.401_402CC>TT	c.(400-402)tcc>tTT	p.S134F		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	134					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCAAGGAACCGGATCCCACATC	0.376000														166			62		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104067193	104067193	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104067193G>A	uc003hxb.1	-	29	4296	c.4206C>T	c.(4204-4206)atC>atT	p.I1402I	CENPE_uc003hxc.1_Silent_p.I1377I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1402					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCACTCACGATTTTGGTAG	0.358000														61			24		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719194	190719194	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:190719194C>T	uc002urh.4	+	8	1725	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	PMS1_uc010zga.1_Missense_Mutation_p.S360F|PMS1_uc010zgb.1_Missense_Mutation_p.S338F|PMS1_uc002urk.4_Missense_Mutation_p.S360F|PMS1_uc002uri.4_Missense_Mutation_p.S399F|PMS1_uc010zgc.2_Missense_Mutation_p.S223F|PMS1_uc010zgd.2_Missense_Mutation_p.S223F|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.S360F|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.S184F|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.S67F	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	399					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATGATGAATCTGGAAAAAAC	0.299000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						31			42		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406934	105406934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:105406934G>A	uc010axc.1	-	6	14974	c.14854C>T	c.(14854-14856)Ccc>Tcc	p.P4952S	AHNAK2_uc021sen.1_Missense_Mutation_p.P349S|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4852S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4952						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTTTCAAGGGACTCCCTTTC	0.537000														25			17		0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446713	140446713	+	Silent	SNP	C	T	T	rs12834		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140446713C>T	uc022bqj.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc004cnh.4_Silent_p.F60F	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.	60					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TCCCGGAGTTCGTCGTCCCGG	0.677000														26			8		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820975	55820975	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55820975G>A	uc010spm.2	+	1	939	c.939_splice	c.e1+1	p.*313_splice		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAAAAACACTGATTTGAATGC	0.318000														14			4		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795479	142795479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:142795479G>A	uc004fbz.3	-	1	953	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	67										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCAGTTGATTTGAATTT	0.438000														57			69		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396955	38396955	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:38396955G>A	uc022bgy.1	+	0	1210	c.1210G>A	c.(1210-1212)Ggt>Agt	p.G404S	ALDH1B1_uc004aay.3_Missense_Mutation_p.G404S	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	404					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TACTGTCTTTGGTGGCGTGCA	0.547000														46			11		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875936	16875936	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:16875936C>T	uc002neu.4	+	9	2765	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S	NWD1_uc002net.4_Silent_p.S646S|NWD1_uc002nev.4_Silent_p.S575S|NWD1_uc021uqg.1_Silent_p.S646S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	781							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGGACTCCCCTGAGGTTG	0.627000														38			10		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770165	38770165	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:38770165G>A	uc003ciq.3	-	14	2508	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	836					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAAGAGTGGAAGAAGTCGT	0.507000														40			14		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43594360	43594360	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:43594360G>T	uc003tid.1	+	28	5285	c.4680G>T	c.(4678-4680)gaG>gaT	p.E1560D	HECW1_uc011kbi.1_Missense_Mutation_p.E1526D	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1560	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTGCATAGAGAAATGGGGGA	0.532000														30			8		1.12685e-05	1.13711e-05	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18808204	18808204	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:18808204C>T	uc001bax.3	+	0	781	c.729C>T	c.(727-729)tcC>tcT	p.S243S	KLHDC7A_uc009vpg.3_Silent_p.S25S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	243						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGCCTCCGATGTTGACC	0.587000														47			14		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48097181	48097181	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48097181G>A	uc003gxx.4	-	6	646	c.560C>T	c.(559-561)tCc>tTc	p.S187F	TXK_uc003gxy.1_Missense_Mutation_p.S187F	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	187	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CATAAATACGGAAATTGTGTA	0.348000														24			12		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869462	234869462	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:234869462G>C	uc002vvh.3	+	11	1445	c.1405G>C	c.(1405-1407)Gac>Cac	p.D469H	TRPM8_uc010fyj.3_Missense_Mutation_p.D157H	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	469						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTCATAAAGGACAGACCCAA	0.433000														28			38		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768620	152768620	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152768620G>A	uc021zhb.1	-	26	3865	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	SYNE1_uc003qot.4_Silent_p.F1221F|SYNE1_uc003qou.4_Silent_p.F1214F|SYNE1_uc010kjb.1_Silent_p.F1197F|SYNE1_uc003qow.3_Silent_p.F509F|SYNE1_uc003qox.1_Silent_p.F730F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1214					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S1213F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGAGCCTTGAAAGAGCTGG	0.453000										HNSCC(10;0.0054)				26			11		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45436370	45436370	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:45436370C>T	uc001zus.1	+	17	2419	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	DUOX1_uc001zut.1_Silent_p.F691F|DUOX1_uc010bee.1_Silent_p.F71F	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	691					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.F691F(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGTCAACTTCGTCCTGTCCA	0.612000														40			17		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345629	92345629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:92345629C>T	uc010tif.2	+	2	880	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	172						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P172S(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGTCTTTTTCCTCTGGTCTA	0.458000														71			33		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011700	68011700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:68011700C>T	uc002evc.4	-	5	958	c.864G>A	c.(862-864)atG>atA	p.M288I	DPEP3_uc010cex.3_Missense_Mutation_p.M288I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	263					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AATCTATCATCATGCCCAGGC	0.493000														10			10		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34258094	34258094	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34258094C>T	uc001bxm.1	-	10	1657	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	CSMD2_uc001bxn.1_Missense_Mutation_p.E454K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	454	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGCCCCTCTCCAAATCAAAC	0.552000														38			24		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57750513	57750513	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:57750513G>A	uc003jrn.3	-	13	2135	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F	PLK2_uc021xyx.1_Missense_Mutation_p.S638F	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	652	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GAAAGTTGTAGATATCCTATC	0.353000														44			21		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45700845	45700845	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:45700845G>A	uc002xsm.3	+	5	811	c.437G>A	c.(436-438)gGa>gAa	p.G146E	EYA2_uc010ghp.3_Missense_Mutation_p.G146E|EYA2_uc002xsq.3_Missense_Mutation_p.G146E	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	146					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCTATCAAGGAGGAAATGGA	0.488000														12			16		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347047	48347047	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:48347047C>T	uc010rhv.2	+	0	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGTTCAGCTCCTCCTGGTCC	0.527000														92			19		0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143795941	143795941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:143795941C>T	uc003qjl.3	+	8	1028	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	256					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ACTTTCTCCTCGAGACATTAC	0.333000														36			17		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236447	103236447	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:103236447C>T	uc002tca.3	+	0	282	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	47						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGCACCAGTTCCAGCCCGCCT	0.687000														18			8		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372419	126372419	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126372419G>A	uc003ifj.4	+	8	10248	c.10248G>A	c.(10246-10248)ggG>ggA	p.G3416G	FAT4_uc011cgp.2_Silent_p.G1714G|FAT4_uc003ifi.1_Silent_p.G894G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3416	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGTGAAGGGGTCCCAATAG	0.458000														92			35		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158815707G>A	uc001fsz.1	+	4	1101	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000														36			20		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654188	19654188	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19654188C>T	uc002nmw.4	+	6	1212	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	CILP2_uc002nmv.4_Missense_Mutation_p.S370L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	370	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCGTGCGCTCGGGCACTGCC	0.652000														35			18		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069714	36069714	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:36069714G>A	uc003gsq.2	-	32	5268	c.4930C>T	c.(4930-4932)Cca>Tca	p.P1644S	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1644					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCCCAAGTGGGGCTTCAGGC	0.498000														97			35		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097784	85097784	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:85097784G>A	uc010ysl.2	-	1	323	c.234C>T	c.(232-234)ttC>ttT	p.F78F	C2orf89_uc002sou.4_Silent_p.F78F|C2orf89_uc010fgc.2_Silent_p.F78F	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	78						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TGCTCTGCAGGAAAGCCTCCT	0.527000														5			9		0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207120	148207120	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:148207120C>T	uc003lpr.2	+	0	965	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	242					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GCTTCCATGTCCAGAACCTTA	0.552000														43			12		0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48852045	48852045	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48852045C>T	uc010igk.3	+	5	554	c.338C>T	c.(337-339)tCc>tTc	p.S113F	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.S108F|OCIAD1_uc003gyq.3_Missense_Mutation_p.S108F|OCIAD1_uc003gyp.3_Missense_Mutation_p.S108F|OCIAD1_uc003gyr.3_Missense_Mutation_p.S108F|OCIAD1_uc021xoc.1_Missense_Mutation_p.S108F	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	108						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						CTTGAAAATTCCCCCCTTGGA	0.363000														45			14		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676369	65676369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:65676369G>A	uc002aou.1	-	19	3941	c.3731C>T	c.(3730-3732)tCc>tTc	p.S1244F	IGDCC4_uc002aot.1_Missense_Mutation_p.S832F	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1244						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGAGACCGGGGATCTGGGCAG	0.622000														29			13		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206650147	206650147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206650147C>T	uc001hdz.2	+	6	1245	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	IKBKE_uc009xbu.2_Missense_Mutation_p.P223S|IKBKE_uc001hea.2_Missense_Mutation_p.P138S|IKBKE_uc009xbv.2_Missense_Mutation_p.P223S	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	223	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCCCTTCATCCCCTTTGGTGG	0.627000														42			16		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159048669	159048669	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:159048669C>T	uc003ipq.4	-	5	1881	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	FAM198B_uc003ipp.4_Missense_Mutation_p.G484R|FAM198B_uc003ipr.4_Missense_Mutation_p.G484R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	484						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGTCTACCTCCTTGACTTTCC	0.398000														60			28		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798460	137798460	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:137798460G>A	uc003vtz.3	+	7	967	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	AKR1D1_uc011kqf.2_Missense_Mutation_p.E253K|AKR1D1_uc011kqe.1_Intron|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	294					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCACTGAAGAAGAAATGAA	0.408000														32			12		0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22390488	22390488	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:22390488C>T	uc011kzi.2	+	12	1745	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	PPP3CC_uc003xbs.3_Silent_p.L426L|PPP3CC_uc003xbt.3_Silent_p.L426L|PPP3CC_uc011kzj.2_Silent_p.L141L	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	426					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CAGGCACACTCCCTCTGGGCG	0.557000														41			11		0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74695139	74695139	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:74695139G>A	uc011csu.2	-	10	1606	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	COL4A3BP_uc003kds.3_Intron|COL4A3BP_uc003kdt.3_Missense_Mutation_p.S523F|COL4A3BP_uc003kdu.2_Missense_Mutation_p.S395F	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	395	START.				ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CAGTACCTGGGAGCTGAATCT	0.438000														19			6		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973101	77973101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:77973101C>T	uc003ugx.3	-	8	1656	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	MAGI2_uc003ugy.3_Missense_Mutation_p.E468K|MAGI2_uc010ldx.1_Missense_Mutation_p.E77K|MAGI2_uc010ldy.1_Missense_Mutation_p.E77K|MAGI2_uc011kgr.1_Missense_Mutation_p.E300K|MAGI2_uc011kgs.1_Missense_Mutation_p.E305K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	468	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTACCTGTTTCCATTTTTCCA	0.408000														51			23		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526126	189526126	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189526126C>T	uc003fry.2	+	3	479	c.390C>T	c.(388-390)tcC>tcT	p.S130S	TP63_uc003frx.2_Silent_p.S130S|TP63_uc003frz.2_Silent_p.S130S|TP63_uc010hzc.1_Silent_p.S130S|TP63_uc003fsa.2_Silent_p.S36S|TP63_uc003fsb.2_Silent_p.S36S|TP63_uc003fsc.2_Silent_p.S36S|TP63_uc003fsd.2_Silent_p.S36S|TP63_uc021xir.1_Silent_p.S36S|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.S11S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	130					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTCCTCGTCCACCAGTCCCT	0.602000										HNSCC(45;0.13)				45			20		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641034	140641034	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:140641034C>T	uc021xsg.1	-	4	3612	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G417R	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	950	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGACTGTTCCCATAAGGCTC	0.577000														81			24		0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69732812	69732812	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:69732812C>T	uc002asb.3	+	16	2231	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S	KIF23_uc002asc.3_Missense_Mutation_p.P685S|KIF23_uc010bii.3_Missense_Mutation_p.P575S|KIF23_uc010ukc.2_Missense_Mutation_p.P502S	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	685					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATCTGTTTCTCCATCACCTGT	0.373000														22			8		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902316	23902316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:23902316G>A	uc001wjx.3	-	3	428	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	108	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCGTAGCGATCCTTGAGG	0.572000														32			21		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378334	31378334	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31378334C>T	uc003ntk.1	+	1	124	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	29			R -> P (in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding; dbSNP:rs9380254).		antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CCACAGTCTTCGTTATAACCT	0.507000														37			11		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881853	38881853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:38881853G>A	uc003jln.2	+	3	807	c.405G>A	c.(403-405)tgG>tgA	p.W135*	OSMR_uc003jlm.2_Nonsense_Mutation_p.W135*	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	135					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGAGTTCCTGGGAGGAAGTCA	0.418000														67			22		0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002686	6002686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:6002686C>T	uc003mwu.3	-	1	751	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	34						anchored to membrane|plasma membrane		p.A33A(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCCTTGAAGACCGCATCGCAC	0.647000														55			16		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5768206	5768206	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5768206C>T	uc002mda.3	+	17	1648	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CATSPERD_uc010duj.1_Silent_p.I187I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	529						integral to membrane											CCATGGGCATCCTGGACCCCT	0.522000														28			14		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617400	70617400	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:70617400C>T	uc003xyl.3	-	5	2195	c.1488G>A	c.(1486-1488)ttG>ttA	p.L496L	SLCO5A1_uc010lzb.3_Silent_p.L441L|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.L496L|SLCO5A1_uc010lzc.2_Silent_p.L441L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	496						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCAAGTTTCAATTTTTTTA	0.403000														41			17		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927413	23927413	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:23927413C>T	uc002nrk.4	-	3	1081	c.939G>A	c.(937-939)aaG>aaA	p.K313K	ZNF681_uc002nrl.4_Silent_p.K244K|ZNF681_uc002nrj.4_Silent_p.K244K	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGCCACATTCCTTATATTCAT	0.383000														37			9		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183962449	183962449	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:183962449G>A	uc003fne.2	-	4	697	c.666C>T	c.(664-666)ctC>ctT	p.L222L	ALG3_uc011brc.1_Silent_p.L187L|ALG3_uc011brd.1_Silent_p.L166L|ALG3_uc011bre.1_Silent_p.L174L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	222					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGTGTGAGGAGAAGAAACA	0.567000														16			9		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41199882G>A	uc003jmk.2	-	3	643	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_uc003jml.1_Missense_Mutation_p.R145C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000														55			14		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102446	155102446	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:155102446C>T	uc002tyt.4	+	4	912	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	GALNT13_uc002tyr.4_Missense_Mutation_p.P270S|GALNT13_uc010foc.1_Missense_Mutation_p.P89S|GALNT13_uc010fod.3_Missense_Mutation_p.P23S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	270						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTATCCTGTTCCCCAAAGAGA	0.388000														12			23		0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32487202	32487202	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32487202A>G	uc003obj.3	-	2	602	c.597T>C	c.(595-597)gtT>gtC	p.V199V	HLA-DRB5_uc003obk.4_Silent_p.V199V	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	199	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGCAGGTGTAAACCTCTCCAC	0.527000														100			85		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863673	55863673	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:55863673G>C	uc003tqz.2	-	9	1349	c.1232C>G	c.(1231-1233)gCt>gGt	p.A411G		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	411					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCGGAGGCAGCTTTCATTTT	0.383000														63			22		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20146266	20146266	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:20146266G>A	uc002rdi.3	-	15	1731	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR35_uc002rdj.3_Silent_p.S530S|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.S106S|WDR35_uc002rdk.4_Silent_p.S106S	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	541										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAATTAAGGGAATATTTTT	0.378000														52			21		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457778	15457778	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15457778T>C	uc010bvf.1	-	7	791	c.791A>G	c.(790-792)aAg>aGg	p.K264R	NPIP_uc010uzu.2_Missense_Mutation_p.K264R			Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	264	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GGAAGGTGTCTTGAGGCTCAG	0.522000														99			11		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501943	140501943	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140501943G>A	uc003lip.1	+	0	363	c.363G>A	c.(361-363)ttG>ttA	p.L121L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	121	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTATTGATCCAGGACA	0.428000														45			24		0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081035	53081035	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:53081035C>T	uc002aci.1	-	0	1175	c.1047G>A	c.(1045-1047)agG>agA	p.R349R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	349					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.R348Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		ACTTCCACATCCTCCGGAAGG	0.662000														35			11		0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133473817	133473817	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:133473817A>T	uc003kyt.3	+	3	705	c.509A>T	c.(508-510)cAt>cTt	p.H170L	TCF7_uc003kyv.3_Missense_Mutation_p.H55L|TCF7_uc003kyw.3_Missense_Mutation_p.H55L|TCF7_uc003kyu.2_Missense_Mutation_p.H55L|TCF7_uc003kyy.3_Missense_Mutation_p.H55L|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Missense_Mutation_p.H55L|TCF7_uc003kza.3_Missense_Mutation_p.H55L	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	170					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACAGCCCACATCCCACCCCT	0.592000														30			14		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023577	6023577	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6023577G>A	uc010qzv.2	-	0	802	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAACAATAAGGATAAGATCA	0.463000														22			5		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58110173	58110173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:58110173G>A	uc003djj.2	+	21	4004	c.3839G>A	c.(3838-3840)tGc>tAc	p.C1280Y	FLNB_uc010hne.2_Missense_Mutation_p.C1280Y|FLNB_uc003djk.2_Missense_Mutation_p.C1280Y|FLNB_uc010hnf.2_Missense_Mutation_p.C1280Y|FLNB_uc003djl.2_Missense_Mutation_p.C1111Y|FLNB_uc003djm.2_Missense_Mutation_p.C1111Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1280	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCACCGAGTGCTTTGTCACA	0.592000														43			11		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035973	37035973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:37035973G>A	uc002rpl.3	+	14	2050	c.1748G>A	c.(1747-1749)tGg>tAg	p.W583*	VIT_uc002rpm.3_Nonsense_Mutation_p.W568*|VIT_uc010ezv.3_Nonsense_Mutation_p.W546*|VIT_uc010ezw.3_Nonsense_Mutation_p.W547*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	568	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GTGGGCTACTGGAGTGGTGGC	0.572000														43			16		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631770	156631770	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:156631770C>T	uc003iov.3	+	6	989	c.453C>T	c.(451-453)atC>atT	p.I151I	GUCY1A3_uc003iou.2_Silent_p.I151I|GUCY1A3_uc010iqc.2_Silent_p.I151I|GUCY1A3_uc010iqd.3_Silent_p.I150I|GUCY1A3_uc003iow.3_Silent_p.I151I|GUCY1A3_uc003iox.3_Silent_p.I151I|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Silent_p.I151I|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.I151I	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	151				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.I151I(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAAAACATCCTTGGGGTGG	0.418000														33			17		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555466	44555466	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44555466G>A	uc003tlb.3	-	18	3869	c.3813C>T	c.(3811-3813)ctC>ctT	p.L1271L	NPC1L1_uc011kbw.2_Silent_p.L1198L|NPC1L1_uc003tlc.3_Silent_p.L1244L|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1271					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGTGATCAGGAGGTTGAGGC	0.592000														37			12		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296288	10296288	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10296288C>T	uc002gmm.2	-	36	5418	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1775					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTGTCCTGTTCCTTCTTCAGC	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					103			37		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298427	107298427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:107298427G>A	uc004bcb.1	-	0	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATTGAGGGATATATCAGC	0.393000														63			18		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388044	196388044	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:196388044C>T	uc003fwv.3	+	2	1634	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	510						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AGGATGTTGCCCCCATGTTAC	0.557000														81			35		0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111426001	111426001	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:111426001T>A	uc001plr.1	+	5	1004	c.668T>A	c.(667-669)tTt>tAt	p.F223Y	LAYN_uc001plp.1_Missense_Mutation_p.F215Y|LAYN_uc010rwg.1_Missense_Mutation_p.F70Y|LAYN_uc010rwh.2_Missense_Mutation_p.F71Y	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	223						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAAAAAACATTTAAAGAAAGT	0.403000														14			11		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733693	31733693	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31733693G>A	uc011dog.2	-	15	2704	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	822						extracellular region											GGAGCCGGAGGAAAGCATGAG	0.617000														322			73		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406262	38406262	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:38406262C>T	uc003jlc.2	+	6	1093	c.747C>T	c.(745-747)ccC>ccT	p.P249P	EGFLAM_uc003jlb.2_Silent_p.P249P|EGFLAM_uc003jle.2_Silent_p.P15P|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	249						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTATGGACCCCGTTATATCA	0.483000														40			17		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865240	106865240	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106865240C>T	uc001kyi.1	+	6	1406	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	393						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)		ACATCAGTTCCCTGGTTGTCC	0.498000														81			32		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443763	5443763	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5443763T>C	uc010qzd.2	+	0	423	c.333T>C	c.(331-333)ttT>ttC	p.F111F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110S(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTCTCCTTTATGGAGTCTT	0.493000														69			38		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24454285	24454285	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24454285C>T	uc003ned.1	-	13	1404	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	GPLD1_uc010jpr.1_Silent_p.L268L|GPLD1_uc010jps.1_Silent_p.L431L	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	431						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGTCCAGGTCCAGGTCAACAG	0.577000														92			22		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76853860	76853860	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:76853860G>A	uc001oyb.2	+	2	396	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	MYO7A_uc010rsl.2_Missense_Mutation_p.E42K|MYO7A_uc010rsm.1_Missense_Mutation_p.E31K|MYO7A_uc001oyc.2_Missense_Mutation_p.E42K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	42	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTGGATGATGAAGACAATGT	0.597000														7			5		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066489	67066489	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:67066489G>A	uc003xvv.3	+	8	1670	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T	TRIM55_uc003xvu.3_Missense_Mutation_p.A482T|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	482						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTACGGAAGGCAGAAGTGGC	0.567000														34			6		0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158093791	158093791	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:158093791C>T	uc003qqt.3	+	8	1601	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ZDHHC14_uc003qqs.3_Intron|ZDHHC14_uc010kjn.3_Silent_p.F23F	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	368						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCACCAAATTCGTTTTGCAGG	0.667000														19			15		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400899	11400899	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:11400899G>A	uc003gmq.3	-	1	1054	c.731C>T	c.(730-732)tCg>tTg	p.S244L	HS3ST1_uc021xmg.1_Missense_Mutation_p.S244L	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	244						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.S244S(3)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTAGAAGTTCGAAGCATTGAT	0.572000														35			7		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377833	44377833	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44377833C>T	uc002oxs.4	-	1	524	c.524G>A	c.(523-525)cGa>cAa	p.R175Q		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GTGGATTTTTCGATGTCTAAT	0.368000														48			24		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221772	59221772	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:59221772C>T	uc010dps.1	+	10	2402	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	CDH20_uc002lif.2_Silent_p.F744F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	750					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGTATATGTTCGAGGGGGACG	0.647000														11			7		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691979	116691979	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:116691979C>T	uc001pps.1	-	2	899	c.795G>A	c.(793-795)caG>caA	p.Q265Q		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.									p.R264R(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCGCCAGCCTCTGCCGCAGCT	0.652000														131			120		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493477	29493477	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:29493477G>A	uc002kxc.4	-	4	990	c.626C>T	c.(625-627)tCa>tTa	p.S209L	TRAPPC8_uc002kxb.4_Missense_Mutation_p.S155L|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.S209L|TRAPPC8_uc002kxe.2_Missense_Mutation_p.S209L	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	209					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCATAAATTGATTCAGCTCT	0.308000														10			3		0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134521849	134521849	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:134521849G>A	uc001llp.3	+	6	755	c.507G>A	c.(505-507)acG>acA	p.T169T	INPP5A_uc001llo.1_Silent_p.T169T|INPP5A_uc001llq.3_Silent_p.T121T	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	169				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCATCCGGACGAGGTGGTGCA	0.468000														22			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085682	92085682	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:92085682G>A	uc001pdj.4	+	0	421	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	135	Cadherin 1.				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)				TCTGTCAGAGGAGAGGATTTG	0.353000										TCGA Ovarian(4;0.039)				338			143		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969356	47969356	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47969356G>A	uc010ele.3	-	0	321	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_uc002pgx.3_Missense_Mutation_p.S102L|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	102					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577000														28			14		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76832252	76832252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:76832252G>A	uc002jvz.1	-	2	519	c.194C>T	c.(193-195)cCc>cTc	p.P65L	USP36_uc002jwa.1_Missense_Mutation_p.P65L|USP36_uc002jwd.1_Missense_Mutation_p.P65L	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	65					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTCTGTTTTGGGGTTGAGCAA	0.547000														46			34		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546218	94546218	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:94546218C>T	uc001dqh.3	-	7	1019	c.915G>A	c.(913-915)caG>caA	p.Q305Q	ABCA4_uc010otn.1_Silent_p.Q305Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	305					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.M304I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACCACCATTCTGCATGAGGG	0.547000														52			21		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331778	70331778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:70331778C>T	uc001oqc.3	-	20	4534	c.4422G>A	c.(4420-4422)atG>atA	p.M1474I	SHANK2_uc010rqn.2_Missense_Mutation_p.M950I|SHANK2_uc001opz.3_Missense_Mutation_p.M945I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1161					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTTGTCAACCATAAATGCTT	0.483000														66			19		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105801078	105801078	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:105801078C>T	uc001kxr.3	-	37	2799	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	877	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCTCGGGGTCCTGGTGGGCC	0.642000														61			13		0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474331	160474331	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:160474331G>A	uc003fdr.3	+	0	336	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	79					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGATGTGCTCGAGGCCGAGTT	0.582000														24			12		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627021	170627021	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:170627021T>G	uc003qxp.3	+	1	651	c.543T>G	c.(541-543)gaT>gaG	p.D181E	FAM120B_uc003qxo.1_Missense_Mutation_p.D181E|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	181					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAGACACTGATTACCTAATCT	0.488000														69			25		0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147665570	147665570	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:147665570C>T	uc003lpc.3	+	4	447	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	82	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						TAGGGAATTTCATTATCGTAT	0.284000														34			16		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170221237	170221237	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:170221237G>A	uc003mau.3	+	3	373	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	GABRP_uc011dev.2_Missense_Mutation_p.E59K	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	59						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATCTTAGGAGAACCCGTACA	0.358000														37			16		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813348	24813348	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:24813348C>T	uc003xee.3	-	0	784	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	228	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.E228K(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCCTCTTCGTGCACTTTC	0.612000														18			9		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855016	79855016	+	Missense_Mutation	SNP	C	T	T	rs140339198		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79855016C>T	uc010jam.3	-	3	1173	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ANKRD34B_uc003kgw.3_Missense_Mutation_p.E275K|ANKRD34B_uc010jan.3_Missense_Mutation_p.E275K|ANKRD34B_uc021yax.1_Missense_Mutation_p.E275K	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	275						cytoplasm|nucleus		p.E274Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GATAGTTCTTCCTCTGGTGTA	0.488000														54			22		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844178	15844178	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15844178G>A	uc002ddx.3	-	16	2003	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	MYH11_uc002ddv.3_Silent_p.I632I|MYH11_uc002ddw.3_Silent_p.I625I|MYH11_uc002ddy.3_Silent_p.I625I|MYH11_uc010bvg.3_Silent_p.I457I|MYH11_uc002dea.1_Silent_p.I331I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	625	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGGCCCACGATGCGGTCCA	0.647000			T	CBFB	AML									9			4		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18534758	18534758	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:18534758G>A	uc001rdt.3	+	12	1932	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E647K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E425K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	606					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.V605I(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTCCCGTAGAAATGATAAC	0.473000														84			37		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450587	55450587	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55450587A>G	uc002qih.4	-	3	1676	c.1600T>C	c.(1600-1602)Ttg>Ctg	p.L534L	NLRP7_uc010esk.3_Silent_p.L534L|NLRP7_uc002qig.4_Silent_p.L534L|NLRP7_uc002qii.4_Silent_p.L534L|NLRP7_uc010esl.3_Silent_p.L562L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	534							ATP binding	p.E533Q(1)|p.E533K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGGCCTCCAACTCCTTGGCT	0.498000														40			9		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962010	34962010	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:34962010G>A	uc004ddi.2	+	0	1098	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	354										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGATTCTGAGAAGAAGCTGG	0.557000														13			21		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816134	101816134	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:101816134C>T	uc003knn.3	-	1	535	c.363G>A	c.(361-363)gtG>gtA	p.V121V	SLCO6A1_uc003kno.3_Silent_p.V121V|SLCO6A1_uc003knp.3_Silent_p.V121V|SLCO6A1_uc003knq.3_Silent_p.V121V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	121						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GACCAAACACCACACCTAAAA	0.303000														56			23		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87175328	87175328	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87175328G>A	uc003uiz.2	-	15	2231	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ABCB1_uc011khc.2_Missense_Mutation_p.R516W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	580	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGGTGGTCCGACCTTTTCTG	0.383000														43			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981675	89981675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89981675G>A	uc003kju.3	+	28	6449	c.6353G>A	c.(6352-6354)gGa>gAa	p.G2118E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2118					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGCATTTGGAACTCTTCAG	0.433000														36			14		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451818	55451818	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55451818C>T	uc002qih.4	-	3	445	c.369G>A	c.(367-369)tgG>tgA	p.W123*	NLRP7_uc010esk.3_Nonsense_Mutation_p.W123*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W123*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W123*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W151*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	123							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGAATTTCTCCATCCTTCCT	0.433000														223			89		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8113395	8113395	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:8113395G>A	uc002wnb.3	+	0	100	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Missense_Mutation_p.D33N|PLCB1_uc002wmz.1_Missense_Mutation_p.D33N|PLCB1_uc002wna.3_Missense_Mutation_p.D33N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	33				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D32E(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAGTGGGATGATGTAAGTAT	0.672000														22			11		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155749210	155749210	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:155749210C>T	uc003ioo.3	+	4	1766	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	531							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATCAGGCCTCCTTCTTCTGAA	0.348000														60			18		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78437165	78437165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:78437165C>T	uc001ozl.4	-	22	3972	c.3509G>A	c.(3508-3510)gGa>gAa	p.G1170E		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1170					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TAGGCTCCATCCTCCAAGCTT	0.458000														185			74		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:48919933C>T	uc010slu.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000														70			37		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670564	670564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:670564C>T	uc001qii.1	+	19	2944	c.2944C>T	c.(2944-2946)Cat>Tat	p.H982Y	B4GALNT3_uc001qik.1_Missense_Mutation_p.H531Y	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	982						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTTCTTCCATCATTTCCATTC	0.597000														25			13		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212586	62212586	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:62212586G>A	uc003xuh.3	+	1	524	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CLVS1_uc003xug.2_Missense_Mutation_p.G67E|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	67					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTGACATTGGATTTTTACGT	0.458000														41			11		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349247	55349247	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55349247G>A	uc002qhm.1	+	2	333	c.287G>A	c.(286-288)gGa>gAa	p.G96E	KIR3DL2_uc010yfj.2_Missense_Mutation_p.G89E|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.G96E|KIR3DL2_uc002qhn.1_Missense_Mutation_p.G43E	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	191	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R96Q(1)|p.R96W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCCTTGCAGGAACCTACAGA	0.517000														177			73		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138189046	138189046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:138189046C>T	uc003vuc.3	+	1	591	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	TRIM24_uc003vub.3_Missense_Mutation_p.R126C|TRIM24_uc022amn.1_Missense_Mutation_p.R84C	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	126					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.R126C(3)|p.R84C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGAGTCATTCGTTGCCCAGT	0.358000														40			17		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28965101	28965101	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:28965101G>A	uc002kwr.2	+	1	186	c.51G>A	c.(49-51)gtG>gtA	p.V17V	DSG4_uc002kwq.2_Silent_p.V17V	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	17					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M16I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAAAACAGGTGGTGATGGAAG	0.234000														38			10		0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930215	45930215	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:45930215C>T	uc003tnp.3	+	1	711	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	140						extracellular space	insulin-like growth factor binding	p.F138_H139>LN(1)		large_intestine(2)|lung(4)	6						TAATTTCCATCTGATGGCCCC	0.512000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			26		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2428367	2428367	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2428367C>T	uc001aji.1	+	14	2305	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	PLCH2_uc010nyz.2_Silent_p.L466L|PLCH2_uc009vle.1_Silent_p.L466L|PLCH2_uc001ajj.1_Silent_p.L466L|PLCH2_uc001ajk.1_Silent_p.L466L|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	678	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCAGCAGCTCTCCCGCATCT	0.637000														37			17		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184401	130184401	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:130184401G>A	uc009zyl.1	-	1	1250	c.922C>T	c.(922-924)Cct>Tct	p.P308S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	308						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGAAACAGGAAAAGTCAGC	0.507000														43			13		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123539080	123539080	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:123539080C>T	uc010nqy.3	-	26	5256	c.5192G>A	c.(5191-5193)gGt>gAt	p.G1731D	ODZ1_uc011muj.2_Missense_Mutation_p.G1730D|ODZ1_uc004euj.3_Missense_Mutation_p.G1724D	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1724					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACGCAGGGAACCATCTGGATT	0.542000														15			19		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:21453303C>T	uc001rer.3	-	6	1140	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E165K|SLCO1A2_uc001res.3_Missense_Mutation_p.E297K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E165K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E165K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E295K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E277K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	297					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCATATTTTTCCTTCTTGACC	0.294000														27			10		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19452036	19452036	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:19452036C>T	uc002dgc.4	+	2	1425	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TMC5_uc010vaq.2_Missense_Mutation_p.P226S|TMC5_uc002dgb.4_Missense_Mutation_p.P226S|TMC5_uc010var.2_Missense_Mutation_p.P226S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	226						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCAGACTATCCCAGTGCTGA	0.463000														56			26		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:103131239G>A	uc022ajr.1	-	58	9641	c.9481C>T	c.(9481-9483)Cct>Tct	p.P3161S	RELN_uc022ajq.1_Missense_Mutation_p.P3161S|RELN_uc010liz.3_Missense_Mutation_p.P3161S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3161					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448000														45			16		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589343	44589343	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44589343G>A	uc002lco.3	+	6	528	c.334_splice	c.e6-1	p.G112_splice	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	184						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCCCTTTCAGGGCCAAATCAT	0.438000														41			7		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43607014	43607014	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:43607014G>A	uc003bdt.2	-	17	2424	c.2297C>T	c.(2296-2298)cCc>cTc	p.P766L		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	766					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCAAACTCGGGCTGGTAGGT	0.637000														28			17		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39882213	39882213	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:39882213C>T	uc001zkh.3	+	12	2313	c.2134C>T	c.(2134-2136)Cac>Tac	p.H712Y	THBS1_uc010bbi.3_Missense_Mutation_p.H184Y	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	712					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.H712Q(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCGACTTACCACTGCAAAAA	0.512000														9			3		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109273436	109273436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109273436C>T	uc001dvx.3	+	8	1765	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	FNDC7_uc010ova.2_Nonsense_Mutation_p.Q356*	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	590	Fibronectin type-III 7.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCACACTCATCAAAACCACTG	0.478000														70			20		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90020308	90020308	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:90020308T>G	uc001tbh.3	-	6	1233	c.1052A>C	c.(1051-1053)aAa>aCa	p.K351T	ATP2B1_uc001tbg.3_Missense_Mutation_p.K351T|ATP2B1_uc001tbf.3_Missense_Mutation_p.K21T	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	351					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAATTTGCTTTCTTTTTATC	0.373000														30			12		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357656	114357656	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:114357656C>T	uc010nqe.3	-	17	1980	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	LRCH2_uc004epz.3_Missense_Mutation_p.R633Q	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	650	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GCGAAGTTGTCGTATTTGCTC	0.413000														5			8		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101839972	101839972	+	Silent	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:101839972G>C	uc003uys.4	+	14	1441	c.1314G>C	c.(1312-1314)ccG>ccC	p.P438P	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P427P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	427					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATCTTTGCCGGCCCCCCCTC	0.562000														45			23		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465911	56465911	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56465911C>T	uc002qmh.3	+	2	558	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	NLRP8_uc010etg.3_Missense_Mutation_p.P163S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	163						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAGTTTTTCCCCATATGGGA	0.438000														50			21		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399899	87399899	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87399899C>T	uc003ujb.3	+	7	1094	c.683C>T	c.(682-684)tCt>tTt	p.S228F	RUNDC3B_uc011khd.1_Missense_Mutation_p.S211F|RUNDC3B_uc011khe.2_Missense_Mutation_p.S211F|RUNDC3B_uc003ujc.3_Missense_Mutation_p.S211F|RUNDC3B_uc003ujd.3_Missense_Mutation_p.S133F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	228										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTCCCAGTTCTGATAGTATC	0.383000														10			8		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119559	65119559	+	Silent	SNP	C	T	T	rs143213867		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:65119559C>T	uc001dbo.1	+	10	1611	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	CACHD1_uc001dbp.1_Silent_p.I257I|CACHD1_uc001dbq.1_Silent_p.I257I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	553	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCAAAATATCCTAAGGTAAG	0.373000														56			13		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076535	134076535	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:134076535G>A	uc001qhd.1	-	7	1581	c.975C>T	c.(973-975)tcC>tcT	p.S325S	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	325					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGATGACTTGGGAGGTAACAG	0.463000														66			30		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76831883	76831883	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:76831883C>T	uc009yup.3	+	10	1720	c.1535C>T	c.(1534-1536)cCc>cTc	p.P512L	CAPN5_uc001oxx.3_Missense_Mutation_p.P472L|CAPN5_uc009yuq.3_Missense_Mutation_p.P508L|CAPN5_uc001oxy.3_Missense_Mutation_p.P512L|CAPN5_uc001oya.3_Missense_Mutation_p.P34L	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	472					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTCATCATCCCCACAACCTTC	0.622000														127			34		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435818	158435818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158435818C>T	uc010pij.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCACTGTCTCCCTGGTCACC	0.532000														134			46		0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:88425751C>T	uc002sst.2	-	1	298	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000														171			66		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106316	55106316	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55106316C>T	uc002qgh.1	+	3	439	c.257C>T	c.(256-258)cCa>cTa	p.P86L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.P86L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	86	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCCCATCCCATCCATCACC	0.562000														64			15		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5052055	5052055	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:5052055G>A	uc002gau.1	+	29	4866	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	USP6_uc002gav.1_Missense_Mutation_p.R879Q|USP6_uc010ckz.1_Missense_Mutation_p.R562Q	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	879					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCAGTCCACCGAAAAATGGTT	0.408000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									36			10		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573848	102573848	+	Splice_Site	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:102573848T>A	uc001phd.1	-	3	365	c.342_splice	c.e3-1	p.R114_splice		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	114					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TAGTTTATTATTCTTAAAAAT	0.343000														21			9		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358893	39358893	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:39358893C>T	uc001uwv.3	+	5	6276	c.5967C>T	c.(5965-5967)atC>atT	p.I1989I	FREM2_uc001uww.3_Silent_p.I75I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1989					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGAAGAATCGGATCAGAGT	0.448000														25			12		0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110637	46110637	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:46110637G>A	uc002imy.3	-	5	307	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	100					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						TCTTGTAGACGATGGTCATAC	0.517000														6			10		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45815369	45815369	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45815369C>T	uc010gpt.1	+	11	1967	c.1867C>T	c.(1867-1869)Cgt>Tgt	p.R623C	TRPM2_uc002zet.1_Missense_Mutation_p.R623C|TRPM2_uc002zeu.1_Missense_Mutation_p.R623C|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R623C|TRPM2_uc002zex.1_Missense_Mutation_p.R409C|TRPM2_uc002zey.1_Missense_Mutation_p.R136C	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	623						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACCCCATCCGTGACCTTCT	0.572000														53			30		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844304	131844304	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:131844304C>T	uc003vra.4	-	24	4817	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1530						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGAATCTTCTCCTTGACCTGA	0.547000														190			64		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691504	31691504	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31691504C>T	uc011doc.2	+	1	190	c.150C>T	c.(148-150)ttC>ttT	p.F50F	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.F50F|C6orf25_uc003nwk.3_Silent_p.F50F|C6orf25_uc011dod.2_Silent_p.F50F|C6orf25_uc003nwn.3_Silent_p.F50F|C6orf25_uc011doe.2_Silent_p.F50F|C6orf25_uc003nwo.3_Silent_p.F50F	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	50						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CACCCAGCTTCCCGGCCTGCA	0.692000														202			65		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428772	120428772	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120428772C>T	uc003vjk.3	-	7	1166	c.792G>A	c.(790-792)aaG>aaA	p.K264K	TSPAN12_uc010lkj.3_Silent_p.K137K	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	264					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AGTTGTCATTCTTCAAGGACA	0.458000														66			28		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797731	34797731	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34797731G>A	uc010gfq.3	+	4	2650	c.2287G>A	c.(2287-2289)Ggg>Agg	p.G763R	EPB41L1_uc002xeu.3_Missense_Mutation_p.G590R|EPB41L1_uc010zvo.1_Missense_Mutation_p.G664R|EPB41L1_uc002xev.3_Missense_Mutation_p.G664R|EPB41L1_uc002xew.3_Missense_Mutation_p.G555R|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Missense_Mutation_p.G590R|EPB41L1_uc002xfb.3_Missense_Mutation_p.G664R	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	664	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCTCAACAAGGGGGCCCCCAG	0.637000														45			18		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664359	3664359	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3664359C>T	uc002fwo.4	-	5	645	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	182	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		cctcctcctccttctccAGAG	0.562000														108			35		0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65081632	65081632	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:65081632C>T	uc003juf.3	+	6	1031	c.853C>T	c.(853-855)Cca>Tca	p.P285S	NLN_uc003jue.3_Missense_Mutation_p.P285S|NLN_uc010iww.3_5'UTR	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	285					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)		GCAGCTACTCCCACTGCGAAC	0.413000														28			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	T	T	rs140846988	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140207946C>T	uc003lho.2	+	0	297	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I90I|PCDHAC2_uc011dab.2_Silent_p.I90I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000														161			57		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9909924	9909924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:9909924G>A	uc003gmc.3	-	7	1109	c.1048C>T	c.(1048-1050)Ccg>Tcg	p.P350S	SLC2A9_uc003gmd.3_Missense_Mutation_p.P321S	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	350			P -> L (in dbSNP:rs2280205).		glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATCTTTGCCGGAGGGATCCCA	0.473000														41			5		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720860	95720860	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95720860C>T	uc009xuj.2	-	0	813	c.294G>A	c.(292-294)tgG>tgA	p.W98*						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CAAATAGCTCCCAGAAGTAGC	0.502000														55			21		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63246607C>T	uc001xfx.3	-	9	1909	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.E562K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000														36			7		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75441953	75441953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:75441953G>A	uc001sxg.1	-	3	2304	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	KCNC2_uc009zry.3_Missense_Mutation_p.S587F|KCNC2_uc001sxe.3_Missense_Mutation_p.S587F|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	587					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCTCCATCAGAAGCACACGT	0.443000														85			28		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3298933	3298933	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:3298933C>T	uc002cun.1	-	3	1372	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G	MEFV_uc021tbw.1_Silent_p.G233G|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	444					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTTCTCCTCCCCATAGGATC	0.527000														102			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229256	140229256	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140229256C>T	uc003lhu.2	+	0	1900	c.1176C>T	c.(1174-1176)caC>caT	p.H392H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.H392H	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	407	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTCCCCTTCA	0.557000														74			36		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45668927	45668927	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45668927T>C	uc002zeg.1	-	10	1461	c.977A>G	c.(976-978)aAc>aGc	p.N326S	DNMT3L_uc002zeh.1_Missense_Mutation_p.N326S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	326					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGCTGGGATGTTGCTCCACAC	0.612000														9			10		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44109483	44109483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:44109483C>T	uc004dgb.4	-	4	904	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	EFHC2_uc022bvg.1_5'UTR	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	272	DM10 2.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TAGAGCATCTCGGCCTGAGCT	0.438000														5			8		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351222	117351222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:117351222C>T	uc001prh.1	-	13	2903	c.2901G>A	c.(2899-2901)tgG>tgA	p.W967*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	907	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCGCTGGGTCCAGCGCAGGT	0.632000														10			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520932	149520932	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:149520932G>A	uc010lpk.3	+	92	13500	c.13500G>A	c.(13498-13500)aaG>aaA	p.K4500K	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4503					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGCTGTAAGGAGTGGTGAG	0.667000														6			5		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041378	234041378	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:234041378G>A	uc001hvy.1	+	1	302	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GATTAAGGAGGATCTGAAATG	0.627000														49			12		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203560637	203560637	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:203560637C>T	uc010zhx.2	+	1	645	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM117B_uc010zhw.2_Missense_Mutation_p.S212F	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	212										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCAAGCCCCTCCAGTATTATC	0.448000														68			170		0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	T	T	rs104894228		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:534286C>T	uc001lpv.3	-	1	225	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	HRAS_uc010qvw.2_Missense_Mutation_p.G13S|HRAS_uc010qvx.2_Missense_Mutation_p.G13S|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	13			G -> C (in FCSS).|G -> D (in FCSS).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G13R(135)|p.G12S(58)|p.G12D(44)|p.G12C(25)|p.G13S(18)|p.G13C(15)|p.G13V(12)|p.G12R(12)|p.G13D(10)|p.G12A(8)|p.G12_G13insAG(2)|p.G13G(1)|p.G12T(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)				27			8		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27436456	27436456	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:27436456G>A	uc001iti.3	-	2	520	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	YME1L1_uc001itj.3_Intron|YME1L1_uc010qdl.2_Intron|YME1L1_uc001itk.2_Missense_Mutation_p.R104C	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	104					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTTCTGGACGGAtgtgccag	0.448000														16			3		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878455	50878456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50878455_50878456GG>AA	uc003blb.2	+	21	2773_2774	c.2351_2352GG>AA	c.(2350-2352)cgg>cAA	p.R784Q	PPP6R2_uc003blc.3_Missense_Mutation_p.R784Q|PPP6R2_uc003bky.2_Missense_Mutation_p.R758Q|PPP6R2_uc003bla.2_Missense_Mutation_p.R758Q|PPP6R2_uc003bkz.2_Missense_Mutation_p.R757Q|PPP6R2_uc003bld.2_Missense_Mutation_p.R317Q	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	784						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGGGCAGCCGGAGCCAAGGCC	0.649000														33			7		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736926	31736926	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31736926C>T	uc011dog.2	-	9	1610	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	VWA7_uc003nxd.2_Missense_Mutation_p.E133K|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	458						extracellular region											GACAAGATCTCACGCCGAGCT	0.542000														323			73		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333708	47333708	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:47333708G>A	uc001cqo.1	-	7		c.1019C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AGCAGTAAAAGATCCAGGAGA	0.453000														25			9		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141178	114141178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:114141178G>A	uc004epu.1	+	5	1305	c.577G>A	c.(577-579)Gga>Aga	p.G193R	HTR2C_uc010nqc.1_Missense_Mutation_p.G193R|HTR2C_uc004epv.1_Nonsense_Mutation_p.W161*	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	193					ERK1 and ERK2 cascade|cGMP biosynthetic process|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			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)	CCCTGTGATTGGACTGAGGGA	0.443000														23			35		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485030	97485030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:97485030G>A	uc001vmw.3	+	1	1018	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	332						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)					GAACGAGAGTGAAAGAAACAC	0.488000														44			23		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024571	90024571	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:90024571G>A	uc003kju.3	+	48	10343	c.10247G>A	c.(10246-10248)gGa>gAa	p.G3416E	GPR98_uc003kjt.3_Missense_Mutation_p.G1122E|GPR98_uc003kjv.3_Missense_Mutation_p.G1016E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3416					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAACAAGGGAGGCTCTGTG	0.488000														86			67		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9202503	9202503	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:9202503A>G	uc001mhl.3	-	5	1523	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	DENND5A_uc010rbw.2_Silent_p.P422P|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	422										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GATTCCCTTCAGGGGGAATTC	0.517000														73			23		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15932125	15932125	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15932125C>T	uc002ddx.3	-	2	91	c.-16_splice	c.e2-1		MYH11_uc002ddv.3_Splice_Site|MYH11_uc002ddw.3_Splice_Site|MYH11_uc002ddy.3_Splice_Site|MYH11_uc010bvg.3_Splice_Site|MYH11_uc002deb.3_Splice_Site	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.						axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGTTGGTCCCCTGTGGAAT	0.542000			T	CBFB	AML									23			9		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358459	57358459	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:57358459G>A	uc003xsz.2	-	0	135	c.54C>T	c.(52-54)ctC>ctT	p.L18L	AX747062_uc003xtb.1_Non-coding_Transcript|PENK_uc003xta.3_Silent_p.L18L|PENK_uc010lym.3_Silent_p.L18L	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	18					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.G17G(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGGTCGCCAGGAGCCCGGGGC	0.677000														18			11		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039443	248039443	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248039443G>A	uc001ido.3	+	5	1161	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	371	B30.2/SPRY.					intracellular	zinc ion binding	p.K370*(1)|p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAAGAAAGGGGGAAACCACGC	0.562000														60			30		0	0	1	0	0
C14orf181	0	broad.mit.edu	37	14	69262882	69262882	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:69262882C>T	uc021rvf.1	-	0	130	c.130G>A	c.(130-132)Gac>Aac	p.D44N	ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|ZFP36L1_uc021rve.1_5'UTR					Synthetic construct DNA, clone: pF1KE0588, Homo sapiens C14orf181 gene for chromosome 14 open reading frame 181, without stop codon, in Flexi system.											NS(1)|cervix(1)|lung(2)|ovary(1)|urinary_tract(1)	6				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		TGGAGCGCGTCCCTTCGTGGG	0.667000														36			14		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333110	57333110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57333110C>T	uc002qnu.2	-	3	929	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.R68Q|PEG3_uc010etp.2_Missense_Mutation_p.R68Q|PEG3_uc010ygs.1_Missense_Mutation_p.R68Q|PEG3_uc002qnq.2_Missense_Mutation_p.R68Q|PEG3_uc002qnt.2_Missense_Mutation_p.R194Q|PEG3_uc002qnv.2_Missense_Mutation_p.R193Q|PEG3_uc002qnw.2_Missense_Mutation_p.R68Q|PEG3_uc002qnx.2_Missense_Mutation_p.R67Q|PEG3_uc010etr.2_Missense_Mutation_p.R193Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	193					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R193W(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAAAGATCCCGCGGAGGCAT	0.542000														87			19		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271650	59271650	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:59271650C>T	uc001noa.1	+	0	602	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTGATGATTTCCAACAATGGC	0.502000														94			35		0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77931932	77931932	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77931932C>T	uc001xtw.3	+	5	772	c.612C>T	c.(610-612)atC>atT	p.I204I	AHSA1_uc010tvk.1_Silent_p.I204I	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	204					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGTCAAAATCCCCACTTGTA	0.458000														41			14		0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64448234	64448234	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:64448234G>A	uc002and.3	-	4	808	c.639C>T	c.(637-639)atC>atT	p.I213I	SNX22_uc002anc.1_3'UTR|SNX22_uc021sow.1_Non-coding_Transcript	NM_000942	NP_000933	P23284	PPIB_HUMAN	Homo sapiens peptidylprolyl isomerase B (cyclophilin B) (PPIB), mRNA.	213					protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	ACTCCTTGGCGATGGCAAAGG	0.597000														23			25		0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79815612	79815612	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79815612G>T	uc003kgv.2	+	3	561	c.418G>T	c.(418-420)Gga>Tga	p.G140*	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	140										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)		TGGTCCAAATGGAAATAGCAA	0.438000														44			4		0.150653	0.150894	1	1	0
CHD1	1105	broad.mit.edu	37	5	98232049	98232049	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:98232049C>A	uc003knf.3	-	10	1739	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	531	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAAAAAGGTCCATATAATTGA	0.378000														36			15		3.45872e-05	3.48648e-05	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54799122	54799122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:54799122C>T	uc001sga.3	-	11	1121	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	351					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGGTCCGATCCATGAGCAGGG	0.647000														15			13		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840784	107840784	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:107840784C>T	uc022ccg.1	+	23	1967	c.1765C>T	c.(1765-1767)Ccg>Tcg	p.P589S	COL4A5_uc004enz.1_Missense_Mutation_p.P589S|COL4A5_uc004eob.1_Missense_Mutation_p.P197S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	589	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCTTCCTGGCCCGAAAGGAGA	0.458000									Alport syndrome with Diffuse Leiomyomatosis					16			11		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689879	241689879	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:241689879C>T	uc010fzk.3	-	27	3191	c.2944G>A	c.(2944-2946)Ggc>Agc	p.G982S	KIF1A_uc002vzy.3_Missense_Mutation_p.G881S|KIF1A_uc002vzz.2_Missense_Mutation_p.G982S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	881					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGAGGAAGCCCTTCACCTCG	0.642000														31			5		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133218876	133218876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:133218876G>A	uc001uks.1	-	37	5104	c.5060C>T	c.(5059-5061)tCc>tTc	p.S1687F	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.S491F|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1687					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCTGTAGGGGACAGCCAGAG	0.572000								DNA polymerases (catalytic subunits)						40			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065535	9065535	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9065535G>A	uc002mkp.3	-	2	22115	c.21911C>T	c.(21910-21912)tCc>tTc	p.S7304F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7306	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7304Y(3)|p.S2937Y(1)		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						TCTTGTGGTGGATATTTCTGG	0.463000														37			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347891	140347891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140347891C>T	uc003lii.3	+	0	2145	c.1540C>T	c.(1540-1542)Caa>Taa	p.Q514*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Nonsense_Mutation_p.Q514*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	514	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGAGATTCAAGGGCTGCC	0.493000														76			21		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033182	41033182	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41033182G>A	uc003jmj.4	-	22	2812	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	HEATR7B2_uc003jmi.4_Silent_p.F329F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	774							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGAAAACTGGAACCCCTGAT	0.453000														34			14		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245091	46245091	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46245091G>A	uc003cph.1	-	1	785	c.714C>T	c.(712-714)gtC>gtT	p.V238V	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.V238V	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	238					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAATCAAACGGACAGCTTTGG	0.388000														19			22		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403001	248403001	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248403001C>T	uc010pzh.2	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTATGTTCATGTACATGA	0.522000														48			29		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135276775	135276775	+	RNA	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:135276775C>A	uc021ydv.1	+	7		c.1202C>A			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAATTATTACATCCTAACTG	0.393000														79			27		2.24059e-21	2.28301e-21	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204043	9204043	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9204043G>A	uc010xkj.2	+	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTCGTGGGGAACCTGCTCA	0.537000														41			15		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64216781	64216781	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:64216781G>A	uc002jfn.4	-	4	554	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	165	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTCCCGATAGAGGGAATTGT	0.423000														120			25		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134476	126134476	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:126134476T>C	uc004bnx.1	+	8	2549	c.2457T>C	c.(2455-2457)ggT>ggC	p.G819G	CRB2_uc004bnw.1_Silent_p.G819G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	819	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTTTCAATGGTGGGACTTGCC	0.602000														31			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141115615	141115615	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141115615A>G	uc002tvj.1	-	73	12300	c.11328T>C	c.(11326-11328)ccT>ccC	p.P3776P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3776	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAGATCCATAGGGATGCATT	0.408000										TSP Lung(27;0.18)				65			25		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062658	194062658	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:194062658G>A	uc003fts.3	-	1	864	c.774C>T	c.(772-774)ctC>ctT	p.L258L	CPN2_uc021xix.1_Silent_p.L258L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	258					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAAAGATGGAGAGCGGCAGGT	0.607000														50			15		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900748	51900748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:51900748G>A	uc002iua.2	+	0	510	c.354G>A	c.(352-354)atG>atA	p.M118I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	118					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A117V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTTGCGATGATCCCCCAGA	0.607000														153			28		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655897	12655897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:12655897C>T	uc002gno.2	+	9	1591	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	MYOCD_uc002gnn.2_Missense_Mutation_p.P431L|MYOCD_uc002gnp.1_Missense_Mutation_p.P335L|MYOCD_uc002gnq.2_Missense_Mutation_p.P150L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	431					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACACGCTGCCCAATTACCAG	0.577000														65			26		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221584	59221584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:59221584G>A	uc010dps.1	+	10	2214	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	CDH20_uc002lif.2_Missense_Mutation_p.E682K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	688					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACCCCCGGGAGGCGCAGGC	0.682000														56			28		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620490	14620490	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:14620490C>T	uc003ssz.3	-	17	1796	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	DGKB_uc011jxt.2_Missense_Mutation_p.G518R|DGKB_uc003sta.3_Missense_Mutation_p.G537R|DGKB_uc011jxu.2_Missense_Mutation_p.G536R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	537	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G536R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCTTTACCTCCTCCCCATCGC	0.428000														32			9		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841288	20841288	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20841288C>T	uc001vxe.3	-	47	6873	c.6833G>A	c.(6832-6834)aGg>aAg	p.R2278K	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_Missense_Mutation_p.R1621K|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R2170K|TEP1_uc010tlh.1_Missense_Mutation_p.R616K	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2278					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCAGAACTCCTTGGTATACA	0.493000														59			26		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743942	40743942	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:40743942C>T	uc002xkg.3	-	21	3180	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R1018Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R202Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	999	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGCCAGTATCGCACACATTT	0.507000														71			24		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351299	124351299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124351299G>A	uc003ehg.3	+	34	5336	c.5209G>A	c.(5209-5211)Ggc>Agc	p.G1737S	KALRN_uc003ehi.3_Missense_Mutation_p.G110S|KALRN_uc003ehk.3_Missense_Mutation_p.G40S|KALRN_uc003ehj.2_Missense_Mutation_p.G40S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1737					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGAGAATGGAGGCAAGTCCGA	0.577000														58			21		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860018	16860018	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:16860018C>T	uc002neu.4	+	5	987	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	NWD1_uc002net.4_Missense_Mutation_p.L54F|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.L54F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	189							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGTCTTCCTTAGAGAGAT	0.582000														46			23		0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81109500	81109500	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81109500C>T	uc001kai.3	+	2	391	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PPIF_uc001kaj.3_Silent_p.F102F	NM_005729	NP_005720	P30405	PPIF_HUMAN	Homo sapiens peptidylprolyl isomerase F (PPIF), nuclear gene encoding mitochondrial protein, mRNA.	102	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	TCCCTTCCTTCATGTGCCAGG	0.542000														28			6		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235902	23235902	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:23235902C>T	uc001wgn.2	+	0	172	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	OXA1L_uc010tnc.2_Missense_Mutation_p.P58S|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.P58S(2)|p.P58P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAGTCCTCTTCCGGGCAAAAT	0.607000														98			32		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745909	90745909	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:90745909G>A	uc011lti.2	-	3	2072	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	681																	GCTGTATAAGGGACAAGGATG	0.537000														87			29		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476846	120476846	+	Missense_Mutation	SNP	G	A	A	rs55751501		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120476846G>A	uc004bjz.3	+	2	2731	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	TLR4_uc004bkb.3_Missense_Mutation_p.A614T|TLR4_uc004bka.3_Missense_Mutation_p.A774T	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	814	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A814T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACTCAGAAAAGCCCTGCTGGA	0.512000														101			39		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57724951	57724951	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:57724951T>A	uc002ixr.1	+	2	898	c.455T>A	c.(454-456)cTt>cAt	p.L152H	CLTC_uc002ixp.3_Missense_Mutation_p.L148H|CLTC_uc002ixq.1_Missense_Mutation_p.L148H	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	148	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATTCTAGCCTTGCAGGGTGC	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """									87			21		0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333417	27333417	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:27333417C>T	uc021rhk.1	-	0	548	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GPR12_uc010aal.3_Missense_Mutation_p.R183Q|GPR12_uc010tdl.2_Missense_Mutation_p.R24Q	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	183						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGACTCGTCTCGGAGGCAGTT	0.602000														34			16		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516273	226516273	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:226516273C>T	uc002voe.2	+	5	2129	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	652																	GTTAGCCAATCGTGATTGACT	0.498000														91			124		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916510	13916510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:13916510G>A	uc003bye.1	-	1	537	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	78					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGGCCATTGCGGAACTGAAAC	0.607000														38			9		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944162	73944162	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73944162C>T	uc003uaq.3	+	8	1582	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P429S|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P397S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P397S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	397						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAAGATCCCCTTCAAGCG	0.617000														34			9		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126126092	126126092	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126126092G>A	uc010hsg.1	+	1	186	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	CCDC37_uc003eiu.1_Missense_Mutation_p.E43K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	43										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGAAAAAACGAAGGTAACCT	0.507000														22			4		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355449	31355449	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:31355449G>A	uc021sia.1	-	6	1202	c.888C>T	c.(886-888)ggC>ggT	p.G296G	TRPM1_uc010azy.3_Silent_p.G170G|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.G279G|TRPM1_uc001zfm.3_Silent_p.G257G	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	257					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCA	0.612000														71			30		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:37397962C>T	uc003aqf.3	-	2	551	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_uc003aqe.3_Silent_p.T50T	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000														19			5		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153065807	153065807	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:153065807G>A	uc011dcy.2	+	7	1109	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	GRIA1_uc003lva.4_Missense_Mutation_p.G351E|GRIA1_uc003luy.4_Missense_Mutation_p.G351E|GRIA1_uc003luz.4_Missense_Mutation_p.G256E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G271E|GRIA1_uc011dcx.2_Missense_Mutation_p.G282E|GRIA1_uc011dcz.2_Missense_Mutation_p.G361E|GRIA1_uc010jia.1_Missense_Mutation_p.G331E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	351					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R361R(1)|p.R361L(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTTTAACAGGAAACGTGCAG	0.443000														48			27		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327167	150327167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150327167G>A	uc022apv.1	-	1	544	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GIMAP6_uc003whn.3_Missense_Mutation_p.P22S|GIMAP6_uc003whm.3_Missense_Mutation_p.P22S	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	22							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGCACAGGATCCTGGGAC	0.453000														151			59		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581216	82581216	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82581216C>T	uc003uhx.2	-	4	9342	c.9053G>A	c.(9052-9054)gGa>gAa	p.G3018E	PCLO_uc003uhv.2_Missense_Mutation_p.G3018E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2949					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGTTCCTTCAGAATA	0.403000														70			24		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667602	63667602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63667602C>T	uc011kdn.2	+	0	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACCGGGACCCCCTGGAAGCCG	0.562000														23			11		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322518	31322518	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:31322518G>A	uc002hhs.1	+	1	201	c.126G>A	c.(124-126)caG>caA	p.Q42Q	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	42					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTGAGCCAGAGTGGTGGTG	0.612000														37			43		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629276	1629276	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:1629276G>A	uc001ltw.1	-	0	418	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	114	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GAGCCCCCACGAAATCCACAG	0.652000														56			34		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1542573	1542573	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:1542573G>A	uc003skn.2	-	2	414	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	INTS1_uc003skq.2_Missense_Mutation_p.P105S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	105					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTAATCGACGGAGAAATGGCT	0.577000														80			32		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3343620	3343620	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3343620G>A	uc002fvm.3	-	8	1151	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	SPATA22_uc010vrg.2_Missense_Mutation_p.P289S|SPATA22_uc010vrf.2_3'UTR|SPATA22_uc002fvo.3_Missense_Mutation_p.P305S|SPATA22_uc002fvn.3_Missense_Mutation_p.P305S|SPATA22_uc002fvp.3_Missense_Mutation_p.P305S|SPATA22_uc010ckf.3_Missense_Mutation_p.P262S	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	305										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATCAGTCTCGGAAGTTCACGA	0.333000														36			14		0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72639959	72639959	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:72639959C>T	uc011ker.1	+	3	273	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		CGCCGAGAACCACCAGGGCAC	0.647000														32			6		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:13378289C>T	uc003bxv.1	-	26	3765	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTACCTACCTCGTGGTGCCGC	0.647000														25			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981315	68981315	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:68981315C>T	uc003xxv.1	+	11	1414	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_uc003xxu.1_Missense_Mutation_p.R463C|PREX2_uc011lez.1_Missense_Mutation_p.R398C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	463	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R463C(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348000														17			8		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44662009	44662009	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44662009C>T	uc002oym.3	+	5	2147	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y	ZNF234_uc002oyl.4_Missense_Mutation_p.H614Y	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCTCCAACTTCATCAGAGTGT	0.463000														83			28		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202503	64202503	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:64202503C>T	uc001srq.1	+	5	1067	c.963C>T	c.(961-963)gcC>gcT	p.A321A	TMEM5_uc001srs.1_Silent_p.A61A	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	321						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCAAGATGCCTTGCTTCAGA	0.413000														49			22		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31685450	31685450	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31685450C>T	uc003nwb.1	+	5	1018	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	LY6G6F_uc003nwf.1_Missense_Mutation_p.P91S|LY6G6F_uc003nwg.1_Missense_Mutation_p.P70S	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	0						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CGTGACTTATCCAGCCCACAG	0.597000														503			123		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046579	73046579	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73046579C>T	uc004ebn.2	+	0		c.34540C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATACCTTTTTCGCTTGGGTCC	0.517000														25			41		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30535997	30535997	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30535997G>A	uc002dyk.4	-	1	1640	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	ZNF768_uc010vex.2_Silent_p.A457A|ZNF768_uc010vew.2_Silent_p.A457A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	488			A -> S (in dbSNP:rs3751848).		regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCCGCACACGGCGCACCTGT	0.657000														15			5		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661246	116661246	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:116661246C>T	uc009yzg.3	-	1	1209	c.777G>A	c.(775-777)cgG>cgA	p.R259R	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Silent_p.R233R|APOA5_uc009yzf.3_Silent_p.R233R			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	233					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCGTGAGCTTCCGGGAGAGCA	0.701000														54			51		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27216230	27216230	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:27216230C>T	uc010hfk.3	-	5	765	c.536G>A	c.(535-537)gGc>gAc	p.G179D	NEK10_uc003cds.1_Missense_Mutation_p.G264D|NEK10_uc010hfj.3_Missense_Mutation_p.G179D			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	867							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTGGAAGCCTTCAGGGGG	0.502000														105			37		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127302395	127302395	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:127302395G>A	uc004bor.1	-	4	691	c.513C>T	c.(511-513)aaC>aaT	p.N171N	NR6A1_uc004boq.1_Silent_p.N167N|NR6A1_uc010mwq.1_Silent_p.N167N	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	171					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TATCACCATGGTTGCTCCAGT	0.498000														94			40		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922342	24922342	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:24922342C>T	uc001ywo.3	+	0	1802	c.1328C>T	c.(1327-1329)cCa>cTa	p.P443L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	443	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTATCCCTCCACTTTCCACC	0.527000														50			21		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265016	15265016	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15265016C>T	uc003bzn.3	+	5	943	c.673C>T	c.(673-675)Cct>Tct	p.P225S		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	225					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGAATATGTTCCTTTCATGAA	0.318000														57			16		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302253	31302253	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31302253C>T	uc003jhe.2	+	5	1207	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	CDH6_uc003jhd.2_Missense_Mutation_p.P283S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	283	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCTTCTCCACCGGGGACACC	0.423000														24			7		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123222	36123223	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:36123222_36123223CC>TT	uc003aof.3	+	2	1107_1108	c.1107_1108CC>TT	c.(1105-1110)tcccgt>tcTTgt	p.R370C		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	370					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTCGAGGATCCCGTGTGGTTAA	0.604000														83			18		0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189579	47189579	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:47189579G>A	uc001ndt.3	-	11	1358	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	ARFGAP2_uc010rha.2_Silent_p.P93P|ARFGAP2_uc010rhb.2_Silent_p.P334P|ARFGAP2_uc001ndu.3_Silent_p.P226P|ARFGAP2_uc010rhc.2_Silent_p.P93P	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	362	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTAAGGAAAAGGGATTGTCCT	0.517000														33			15		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389314	76389314	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:76389314G>A	uc002fex.1	+	1	444	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G98E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G11E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G74E|CNTNAP4_uc002few.2_Missense_Mutation_p.G74E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	99	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G74E(2)|p.G98E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTCAAGGGGGATATGGTAGC	0.522000														25			18		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101586288	101586288	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:101586288C>T	uc002bwr.3	+	20	3385	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1022					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGATGAGCTTCGTTCCCGTTG	0.542000														48			17		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495658	161495659	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:161495658_161495659GG>AA	uc001gaq.3	+	0	1623_1624	c.1210_1211GG>AA	c.(1210-1212)ggg>AAg	p.G404K	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	404					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGTCTCTGGGGCTGGAGACA	0.599000														32			5		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409626	77409626	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:77409626G>A	uc001oyn.3	-	6	2741	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	RSF1_uc001oym.3_Missense_Mutation_p.S622L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	874					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCCTCTTCTGAAGCTGCAGA	0.453000														60			42		0	0	1	0	0
FAM176C	59271	broad.mit.edu	37	21	33867346	33867346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:33867346C>T	uc002ypr.1	+	4	1054	c.644C>T	c.(643-645)tCt>tTt	p.S215F	FAM176C_uc010glw.1_Missense_Mutation_p.S215F|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.S120F	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	215	SUEL-type lectin 2.					integral to membrane	sugar binding										GATTGCTTGTCTTACTCAGCT	0.473000														59			20		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567440	45567440	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:45567440G>A	uc010dnv.3	-	2	541	c.105C>T	c.(103-105)ttC>ttT	p.F35F	ZBTB7C_uc002ldb.3_Silent_p.F13F|ZBTB7C_uc010dnu.3_Silent_p.F22F|ZBTB7C_uc010dnw.3_Silent_p.F13F|ZBTB7C_uc010dnx.1_Silent_p.F13F|ZBTB7C_uc010dny.1_Silent_p.F13F|ZBTB7C_uc010dnz.1_Silent_p.F35F|ZBTB7C_uc010doi.1_Silent_p.F13F|ZBTB7C_uc010doj.1_Silent_p.F22F|ZBTB7C_uc010dok.1_Silent_p.F62F|ZBTB7C_uc010dol.1_Silent_p.F22F|ZBTB7C_uc010doa.1_Silent_p.F35F|ZBTB7C_uc010dob.1_Silent_p.F13F|ZBTB7C_uc010doc.1_Silent_p.F22F|ZBTB7C_uc010dod.1_Silent_p.F35F|ZBTB7C_uc010doe.1_Silent_p.F13F|ZBTB7C_uc010dof.1_Silent_p.F13F|ZBTB7C_uc010dog.1_Silent_p.F13F|ZBTB7C_uc010doh.1_Silent_p.F22F|ZBTB7C_uc010dom.1_Silent_p.F22F|ZBTB7C_uc010don.1_Silent_p.F21F|ZBTB7C_uc010dop.1_Silent_p.F13F|ZBTB7C_uc010doq.1_Silent_p.F22F|ZBTB7C_uc010dor.1_Silent_p.F35F|ZBTB7C_uc010dos.1_Silent_p.F13F|ZBTB7C_uc010dot.1_Silent_p.F13F|ZBTB7C_uc010doo.1_Silent_p.F13F|ZBTB7C_uc010dou.1_Silent_p.F22F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	13	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTGGTTGGGGAAGGGAATGC	0.572000														30			12		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124062268	124062268	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:124062268G>A	uc004blf.1	+	0	190	c.129G>A	c.(127-129)cgG>cgA	p.R43R	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	43					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						cccaggggcgggtgcccgagg	0.716000														6			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552860	179552860	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179552860T>C	uc021vsy.1	-	123	28782	c.28557A>G	c.(28555-28557)gaA>gaG	p.E9519E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E6180E|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10446							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)			TAACCTCTGCTTCTTCCTCCT	0.393000														45			64		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823959	53823959	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53823959T>C	uc001scx.2	+	9	1398	c.1318T>C	c.(1318-1320)Tat>Cat	p.Y440H	AMHR2_uc009zmy.2_Silent_p.P438P|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	440	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAACTGGCCTATGAGGCAGA	0.577000														163			66		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874486	33874486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:33874486C>T	uc021wck.1	-	3	2214	c.2096G>A	c.(2095-2097)gGg>gAg	p.G699E	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G354E	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	699										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTGGGACCCCCAGGCTCAGT	0.582000														117			27		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249241	20249241	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20249241G>A	uc010tku.2	+	0	760	c.760G>A	c.(760-762)Ggg>Agg	p.G254R		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTAATGTTTGGGCCATCCAT	0.438000														253			28		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16727338	16727338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:16727338C>T	uc001ayn.3	-	10	1534	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.E328K	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	351							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		ACGGCCGCTTCCATCTCCTGG	0.567000														118			46		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77595570	77595570	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:77595570G>A	uc011bgk.2	+	7	1671	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ROBO2_uc021xat.1_Missense_Mutation_p.G355E|ROBO2_uc003dpy.4_Missense_Mutation_p.G339E|ROBO2_uc003dpz.3_Missense_Mutation_p.G343E|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	339	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACTAAAGGAAACCCACAG	0.453000														172			57		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71862934	71862934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:71862934G>A	uc004ahe.3	+	18	2992	c.2674G>A	c.(2674-2676)Ggg>Agg	p.G892R	TJP2_uc011lrs.2_Missense_Mutation_p.G869R|TJP2_uc004ahd.3_Missense_Mutation_p.G892R|TJP2_uc004ahf.3_Missense_Mutation_p.G892R|TJP2_uc011lru.2_Missense_Mutation_p.G896R|TJP2_uc011lrv.2_Missense_Mutation_p.G923R|TJP2_uc010mom.1_Missense_Mutation_p.G52R	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	892					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTAGATGGAAGGGATGGATGA	0.547000														62			20		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3726094	3726094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:3726094G>A	uc010ewt.3	+	3	282	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	60							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGAATATACGGAGTTTGGGAA	0.468000										HNSCC(21;0.051)				35			21		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224093	28224093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:28224093C>T	uc009xky.3	-	15	2439	c.2341G>A	c.(2341-2343)Gga>Aga	p.G781R	ARMC4_uc010qds.2_Missense_Mutation_p.G306R|ARMC4_uc010qdt.2_Missense_Mutation_p.G473R|ARMC4_uc001itz.3_Missense_Mutation_p.G781R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	781							binding	p.G781R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGCATTCTCCCAAGGCCCCA	0.458000														56			27		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376264	2376264	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:2376264G>A	uc002cpy.1	-	4	778	c.66C>T	c.(64-66)gtC>gtT	p.V22V	ABCA3_uc010bsk.1_Silent_p.V22V|ABCA3_uc010bsl.1_Silent_p.V22V|ABCA3_uc002cpz.1_Silent_p.V22V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	22					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGTCACCAGGACCTTCCGCT	0.567000														45			21		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081333	95081333	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:95081333G>A	uc001ydp.3	+	1	714	c.555G>A	c.(553-555)aaG>aaA	p.K185K	SERPINA3_uc001ydo.4_Silent_p.K210K|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.K185K|SERPINA3_uc001yds.3_Silent_p.K185K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	185					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTACGTGAAGAATGGAACTA	0.493000														64			28		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56913085	56913085	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:56913085C>T	uc002ekd.4	+	9	1310	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC12A3_uc010ccm.3_Silent_p.F427F|SLC12A3_uc010ccn.3_Silent_p.F426F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	427					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTGGAACTTCACCGAGTGCA	0.632000														9			8		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697734	109697734	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:109697734C>T	uc004eor.2	+	2	4135	c.3889C>T	c.(3889-3891)Cta>Tta	p.L1297L	RGAG1_uc011msr.1_Silent_p.L1297L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1297										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						GGCTGGCAGCCTAAAGGAGCT	0.532000														26			38		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21781647	21781647	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:21781647C>T	uc003svc.3	+	49	8069	c.8038C>T	c.(8038-8040)Cca>Tca	p.P2680S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2680	AAA 3 (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						AGCATTTGCTCCATCAATTCT	0.403000									Kartagener syndrome					90			38		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770204	31770204	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:31770204G>A	uc002nsy.4	-	1	560	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	165					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGCCAGTCGAAGCTCCCgc	0.642000														14			8		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922080	190922080	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:190922080C>T	uc002urp.3	-	2	1165	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	344					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTGGAGACATCTTTGTGGGAG	0.398000														15			24		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52941685	52941685	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52941685G>A	uc001sao.3	-	5	1130	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	354	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCTGGATGAGCCGAGTGAGC	0.562000														91			32		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646650	127646650	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:127646650G>A	uc010hsr.3	+	1	1117	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	KBTBD12_uc003ejy.4_5'UTR|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Silent_p.Q13Q|KBTBD12_uc003ejz.2_Missense_Mutation_p.A372T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	372										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTTATGCACAGCTGAATTTCG	0.368000														136			44		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974675	79974676	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79974675_79974676GG>AA	uc002kcy.3	+	15	1785	c.1688_splice	c.e15-1	p.G563_splice	ASPSCR1_uc002kcx.3_Splice_Site_p.G469_splice|ASPSCR1_uc021ufj.1_Splice_Site_p.G392_splice|ASPSCR1_uc002kda.3_Splice_Site_p.G417_splice	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	469							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTCCCTGCAGGTGTCTACCTG	0.673000			T	TFE3	alveolar soft part sarcoma									19			18		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1043233	1043233	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:1043233C>T	uc001ift.3	+	4	617	c.546C>T	c.(544-546)tcC>tcT	p.S182S	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.S66S|GTPBP4_uc010qae.2_Silent_p.S135S	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	182					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTGGGAAGTCCAGCTTCATCA	0.448000														94			46		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881294	142881294	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142881294C>T	uc011ksw.2	+	0	783	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	261					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGGGGGCCATCAAAGCTATCA	0.478000														80			25		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27462613	27462613	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:27462613G>A	uc003xfy.2	-	4	837	c.690C>T	c.(688-690)ttC>ttT	p.F230F	CLU_uc003xfw.2_Silent_p.F219F|CLU_uc003xfx.2_Silent_p.F219F|CLU_uc003xfz.2_Silent_p.F219F	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	219					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ACTTGGGAAAGAAGAAGTGAG	0.587000														68			17		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844928	54844928	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54844928C>T	uc002qfj.3	-	7	1472	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	LILRA4_uc002qfi.3_Missense_Mutation_p.R406K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	472						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGGGCTTCTCTGGCTGTG	0.547000														48			10		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404995	10404995	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10404995C>T	uc002gmo.3	-	25	3358	c.3264G>A	c.(3262-3264)gaG>gaA	p.E1088E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1088						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1088*(1)		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						TCATTTCAAACTCTTTCCTAT	0.358000														32			10		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:9629871C>T	uc003jem.1	-	0	593	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413000														19			6		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749225	62749225	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:62749225G>A	uc001src.2	+	7	959	c.884G>A	c.(883-885)gGa>gAa	p.G295E	USP15_uc001srb.2_Missense_Mutation_p.G266E	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	295					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTAACTTGGGAAATACGTGT	0.373000														26			10		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721977	24721977	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:24721977G>A	uc001iru.4	+	3	1010	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	KIAA1217_uc001irs.3_Missense_Mutation_p.E123K|KIAA1217_uc001irt.4_Missense_Mutation_p.E203K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E203K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E203K|KIAA1217_uc001irv.1_Missense_Mutation_p.E53K|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	203					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GATGCCGAATGAAATCACAAG	0.483000														33			10		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790163	20790163	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:20790163C>T	uc001reh.2	+	8	2171	c.2131C>T	c.(2131-2133)Ctt>Ttt	p.L711F	PDE3A_uc021qwa.1_Missense_Mutation_p.L389F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	711					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGTATTCTTAGTCAGGT	0.328000														17			11		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														44			5		0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172135	94172135	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:94172135G>A	uc022bjt.1	-	0	882	c.882C>T	c.(880-882)gtC>gtT	p.V294V	NFIL3_uc004arh.3_Silent_p.V294V	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	294					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGCCCTTGGGGACCTGTTGCT	0.512000														113			45		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83159046	83159046	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:83159046G>A	uc010vns.2	+	4	828	c.564G>A	c.(562-564)gtG>gtA	p.V188V	CDH13_uc021tlw.1_Silent_p.V141V|CDH13_uc010chh.3_Silent_p.V141V|CDH13_uc002fgx.3_Silent_p.V141V|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Intron	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	141	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGTCCATTGTGGTATCTCCCA	0.358000														22			8		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2058350	2058350	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:2058350G>T	uc003zhc.3	+	7	1506	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	SMARCA2_uc003zhd.3_Silent_p.V469V|SMARCA2_uc010mha.3_Silent_p.V460V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	469	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCGGTCTGTGGCCGGAAAGA	0.423000														110			33		3.90053e-15	3.96792e-15	1	1	0
PHF20	51230	broad.mit.edu	37	20	34451086	34451086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34451086C>T	uc002xek.1	+	5	683	c.572C>T	c.(571-573)cCc>cTc	p.P191L	PHF20_uc002xei.1_Missense_Mutation_p.P191L|PHF20_uc010gfo.1_Missense_Mutation_p.P191L|PHF20_uc002xej.1_Missense_Mutation_p.P75L|PHF20_uc002xel.1_Missense_Mutation_p.P53L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	191	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAAAAGCGACCCAAGCAGCCT	0.383000														60			47		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714779	35714779	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35714779G>A	uc003zxt.2	-	21	3203	c.2849C>T	c.(2848-2850)cCc>cTc	p.P950L		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	950					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGCAGGGGCTGGGGGCC	0.597000														85			29		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076451	93076451	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:93076451G>A	uc003kkl.1	-	0	859	c.819C>T	c.(817-819)tcC>tcT	p.S273S	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TCTCCCGTGGGGAAGCATCAT	0.582000														12			5		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945591	16945591	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:16945591G>A	uc010ocf.2	-	3		c.566C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCCTTCAGAGACAAGGCCTG	0.602000														380			27		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463421	26463421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:26463421G>A	uc001isn.2	+	29	4588	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1410					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGAAGAAGGATAACAAAGA	0.323000														54			27		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217597	150217597	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150217597G>A	uc003whk.3	+	1	665	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	GIMAP7_uc022apu.1_Missense_Mutation_p.E179K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	179							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGAGAAGGAAAGTCAAGT	0.488000														39			16		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560646	44560646	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44560646G>A	uc003tlb.3	-	12	3081	c.3025C>T	c.(3025-3027)Cat>Tat	p.H1009Y	NPC1L1_uc011kbw.2_Missense_Mutation_p.H963Y|NPC1L1_uc003tlc.3_Missense_Mutation_p.H1009Y|NPC1L1_uc003tla.3_Missense_Mutation_p.H12Y	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1009					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATACTTATGGAACTGCTCC	0.557000														107			36		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21699320	21699320	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:21699320C>T	uc001rfb.3	-	11	1762	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	503					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAATACTCCAAGATGACAA	0.368000														29			6		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645692	39645692	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:39645692C>T	uc003xnj.3	-	8	796	c.721G>A	c.(721-723)Gga>Aga	p.G241R	ADAM2_uc003xnk.3_Missense_Mutation_p.G222R|ADAM2_uc011lck.2_Missense_Mutation_p.G241R|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	241	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.T240A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAGCTTCTCCAGTGGTTGCA	0.284000														40			19		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101961	69101961	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:69101961C>T	uc003hdw.4	-	2	284	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	50	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATATGAAAATCACCTTGATAA	0.328000														10			5		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14558700	14558700	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:14558700G>A	uc021wtn.1	-	12	1466	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	393	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGTCGGCGAGGAAAAGGGAGT	0.622000														29			10		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153658315	153658315	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153658315G>A	uc001fcs.4	+	8	2060	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	NPR1_uc010pdz.2_Missense_Mutation_p.E293K|NPR1_uc010pea.2_Missense_Mutation_p.E51K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	547	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTAACCACAGAGGGCCAGTT	0.562000														48			14		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344963	53344963	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53344963T>G	uc002qaf.3	-	3	735	c.584A>C	c.(583-585)aAt>aCt	p.N195T	ZNF468_uc002qae.3_Missense_Mutation_p.N142T|ZNF468_uc021uzb.1_Missense_Mutation_p.N142T	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATGGAGGGAATTATTTCCATA	0.343000														109			14		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315052	136315052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:136315052C>T	uc004cdv.4	+	22	3454	c.3010C>T	c.(3010-3012)Cag>Tag	p.Q1004*	ADAMTS13_uc004cdp.4_Nonsense_Mutation_p.Q231*|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1004*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q973*|ADAMTS13_uc004cdw.4_Nonsense_Mutation_p.Q1004*|ADAMTS13_uc004cdx.4_Nonsense_Mutation_p.Q973*|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Nonsense_Mutation_p.Q674*	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1004	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCGGAACCCCAGGAGGCCTG	0.677000														14			10		0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372267	34372267	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:34372267G>A	uc003zue.4	-	2	839	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	225					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGTAGCGCTCGAGGATGCCCC	0.657000														10			4		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101971544	101971544	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:101971544G>A	uc002bxa.2	-	4	949	c.635C>T	c.(634-636)cCt>cTt	p.P212L	PCSK6_uc010bpd.3_Missense_Mutation_p.P83L|PCSK6_uc002bwy.3_Missense_Mutation_p.P212L|PCSK6_uc010bpe.3_Missense_Mutation_p.P209L|PCSK6_uc002bxb.2_Missense_Mutation_p.P212L|PCSK6_uc002bxc.1_Missense_Mutation_p.P212L|PCSK6_uc002bxd.1_Missense_Mutation_p.P212L|PCSK6_uc002bxe.3_Missense_Mutation_p.P212L|PCSK6_uc002bxg.1_Missense_Mutation_p.P212L	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	213	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCAGGTCAGGGTGATTTCT	0.448000														17			7		0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393886	46393886	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:46393886G>A	uc002pdt.3	-	2	1282	c.1195C>T	c.(1195-1197)Ccg>Tcg	p.P399S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	399						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGATTTCACGGAGATTTCCAT	0.642000														33			16		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509428	106509428	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:106509428C>T	uc003vdv.4	+	1	1507	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	PIK3CG_uc003vdu.3_Silent_p.L474L|PIK3CG_uc003vdw.3_Silent_p.L474L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	474					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCGTTTCCTCCTGCGCCGTG	0.522000														61			27		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153177437C>T	uc001fbl.3	+	1	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F	LELP1_uc021ozv.1_Missense_Mutation_p.S85F	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	85	Cys/Pro-rich.							p.S85S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000														23			7		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188931	6188931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:6188931C>T	uc001amb.2	-	22	3697	c.3586G>A	c.(3586-3588)Ggc>Agc	p.G1196S	CHD5_uc001alz.2_Missense_Mutation_p.G53S|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1196					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCGTGCCGAACTTGAGG	0.657000														32			10		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433255	73433255	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:73433255G>A	uc003dpl.1	-	9	2558	c.2462C>T	c.(2461-2463)aCc>aTc	p.T821I	PDZRN3_uc011bgh.1_Missense_Mutation_p.T478I|PDZRN3_uc010hoe.1_Missense_Mutation_p.T519I|PDZRN3_uc021xaq.1_Missense_Mutation_p.T114I|PDZRN3_uc011bgf.1_Missense_Mutation_p.T538I|PDZRN3_uc011bgg.1_Missense_Mutation_p.T541I	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	821							ubiquitin-protein ligase activity|zinc ion binding	p.T821N(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGGCTATAGGTAGGGGTGCC	0.657000														59			20		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30950108	30950108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30950108C>T	uc010xbr.1	-	4	396	c.254G>A	c.(253-255)aGc>aAc	p.S85N	C18orf34_uc002kxn.2_Missense_Mutation_p.S85N|C18orf34_uc010dmf.1_Missense_Mutation_p.S85N|C18orf34_uc002kxo.2_Missense_Mutation_p.S85N|C18orf34_uc002kxp.3_Missense_Mutation_p.S85N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	85								p.S85G(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TACGGCACAGCTGTGACGTCG	0.373000														31			7		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908310	103908310	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:103908310C>T	uc001phr.2	+	0	1003	c.760C>T	c.(760-762)Cct>Tct	p.P254S	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	254					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAATGGGCATCCTTTGAAGGC	0.498000														42			41		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:47629874C>T	uc001rpq.3	+	1	1553	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	343	Pro-rich.						hydrolase activity	p.S343F(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCCTGTTTTTCCTCAGACCAT	0.542000														112			48		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473159	66473159	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66473159C>T	uc001ojd.3	-	12	1875	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	601					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCACCTTTCCCTGGGTTGC	0.647000														23			9		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633149	80633149	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:80633149C>T	uc001szd.3	+	9	961	c.955C>T	c.(955-957)Cct>Tct	p.P319S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGCAGTTTCCTTTTCTGAG	0.353000														73			31		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674323	3674323	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:3674323G>A	uc002wja.3	-	12	3279	c.3279C>T	c.(3277-3279)ccC>ccT	p.P1093P	SIGLEC1_uc002wiz.4_Silent_p.P1093P|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1093	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGTAGCCCCGGGCCACACCT	0.642000														34			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082369	9082369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9082369G>A	uc002mkp.3	-	0	9650	c.9446C>T	c.(9445-9447)tCa>tTa	p.S3149L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3150	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I3148N(1)		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						GGCAGGAACTGAAATAGAGCT	0.458000														47			31		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233206	21233206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21233206C>T	uc002red.3	-	25	6662	c.6534G>A	c.(6532-6534)atG>atA	p.M2178I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2178	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAATTGTATCATATATGTCT	0.234000														272			76		0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														21			4		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49741385	49741385	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:49741385A>C	uc001vcm.3	+	8	1288	c.983A>C	c.(982-984)gAa>gCa	p.E328A	FNDC3A_uc001vcn.3_Missense_Mutation_p.E328A|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.E272A|FNDC3A_uc001vcq.3_Missense_Mutation_p.E272A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	328	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCCAGAGGAGAAGAAACAAAT	0.328000														24			6		0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31674562	31674562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:31674562C>T	uc011axe.2	+	14	2323	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	775					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTAAAAGCACCTGATAACAG	0.378000														34			8		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121504	62121504	+	Silent	SNP	G	A	A	rs8077780		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62121504G>A	uc002jdz.2	-	21	2891	c.2778C>T	c.(2776-2778)ccC>ccT	p.P926P	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	926	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGAAGTCGTCGGGGAGGGACC	0.597000														90			15		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641814	142641814	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142641814G>A	uc003wcb.3	-	11	1539	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	443					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGATCGCAGTGAATAATTTCA	0.592000														29			9		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575725	22575725	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:22575725G>A	uc002nqt.2	-	3	434	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y103*(1)|p.F104I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCACTTTTTGGAAATAATTTT	0.299000														14			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234300	21234300	+	Silent	SNP	G	A	A	rs147543230		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21234300G>A	uc002red.3	-	25	5568	c.5440C>T	c.(5440-5442)Cta>Tta	p.L1814L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1814					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTAGCCGTAGTTTCCCATTG	0.413000														455			162		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24647306	24647306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:24647306C>T	uc001wmr.3	+	12	1298	c.871C>T	c.(871-873)Cca>Tca	p.P291S	REC8_uc001wms.3_Missense_Mutation_p.P291S	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	292	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GAGGAGGCCCCCAGTCCCCCC	0.612000														43			14		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38786957	38786957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:38786957C>T	uc001zke.4	-	15	2063	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Intron|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Missense_Mutation_p.G594R	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	629					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTAAAAGGTCCTTCCTCAGGT	0.463000														17			9		0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508890	140508890	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140508890C>T	uc004cnp.2	+	5	832	c.758C>T	c.(757-759)cCg>cTg	p.P253L	ARRDC1_uc004cns.3_Missense_Mutation_p.P253L|ARRDC1_uc004cnx.2_Missense_Mutation_p.P128L			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	253										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		TCGGCCCTGCCGGGCTGCAGC	0.682000														73			26		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7669782	7669782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7669782C>T	uc002giu.1	+	20	3672	c.3658C>T	c.(3658-3660)Ctt>Ttt	p.L1220F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1220	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCCAAGGACCTTCAGAACCT	0.572000														27			10		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406671	57406671	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:57406671C>T	uc001cyp.3	-	8	1316	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	C8B_uc010oon.2_Missense_Mutation_p.D355N|C8B_uc010ooo.2_Missense_Mutation_p.D365N	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCATGGTGTCCCTCTTGTTT	0.552000														24			9		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391735	107391735	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:107391735G>A	uc003prs.2	-	4	1310	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	220								p.L219L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCTCAAGGGAGAGCAGGTCCA	0.567000														24			9		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084835	248084835	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248084835C>T	uc010pzc.2	+	0	516	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	172					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)			CACACGAGATCGATCACTTCT	0.562000														23			9		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962736	33962736	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:33962736G>A	uc001zhi.3	+	37	5909	c.5839G>A	c.(5839-5841)Gag>Aag	p.E1947K	RYR3_uc010bar.3_Missense_Mutation_p.E1947K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1947	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1946T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGCCGACGGAGGAGGAGGA	0.453000														58			21		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612657	142612657	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142612657G>A	uc003wby.1	-	8	1468	c.1204C>T	c.(1204-1206)Cta>Tta	p.L402L		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	402					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCACCTCTAGGAGCAGGATG	0.557000														31			14		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114072	168114072	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168114072C>T	uc010jjg.3	-	29	3667	c.3247G>A	c.(3247-3249)Gat>Aat	p.D1083N	SLIT3_uc003mab.3_Missense_Mutation_p.D1076N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1076	EGF-like 5.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACAGTCATCATTGTCTGTC	0.597000														33			14		0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40557619	40557619	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:40557619C>G	uc003ckk.3	+	4	683	c.534C>G	c.(532-534)agC>agG	p.S178R	ZNF620_uc003ckl.3_Missense_Mutation_p.S64R	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AAAATATTAGCGTCAGCACAC	0.408000														22			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544719	82544719	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82544719G>A	uc003uhx.2	-	6	12872	c.12583C>T	c.(12583-12585)Cta>Tta	p.L4195L	PCLO_uc003uhv.2_Silent_p.L4195L|PCLO_uc010lec.3_Silent_p.L1160L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4126					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTCAATTAGTGATTTCTTA	0.358000														35			12		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713789	10713789	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:10713789C>T	uc001aro.3	-	10	2645	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CASZ1_uc001arp.1_Silent_p.L775L|CASZ1_uc009vmx.2_Silent_p.L799L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCTGGGGCAGCAGCCCCGAGA	0.701000														35			16		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740546	32740546	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:32740546T>C	uc010ezu.3	+	54	11192	c.11058T>C	c.(11056-11058)atT>atC	p.I3686I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3686					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3656fs*3(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGCTCCTATTCTTAGGTTTT	0.418000														22			10		0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652039	28652039	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:28652039C>T	uc002hfa.1	-	3	508	c.435G>A	c.(433-435)gtG>gtA	p.V145V	TMIGD1_uc010csh.1_Silent_p.V145V	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	145	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GGTTGGCTTTCACATTGCAAA	0.428000														94			31		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952727	54952727	+	Missense_Mutation	SNP	C	T	T	rs11541701	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54952727C>T	uc003dhl.3	-	2	931	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	266						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAAGAGTTCTCGCTCCCCCGC	0.617000														26			21		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172241118G>A	uc003fid.3	-	0	180	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Silent_p.I19I|TNFSF10_uc010hwu.2_Silent_p.I19I	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000														46			23		0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722606	53722606	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53722606G>T	uc001sct.3	-	1	727	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	SP7_uc001scv.3_Missense_Mutation_p.P207Q|SP7_uc001scu.3_Missense_Mutation_p.P189Q	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGGGGGCTGGATTAAGGGG	0.597000														44			20		1.50039e-11	1.52303e-11	1	1	0
RGNEF	64283	broad.mit.edu	37	5	73163946	73163946	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:73163946C>T	uc010izf.3	+	19	2495	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	RGNEF_uc011csq.2_Silent_p.S773S|RGNEF_uc021yam.1_Silent_p.S773S|RGNEF_uc011csr.2_Silent_p.S460S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	773					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGCCACATCCTTGGAGTCTG	0.498000														12			7		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154520815	154520815	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:154520815C>T	uc021zhc.1	-	19	2785	c.2280G>A	c.(2278-2280)aaG>aaA	p.K760K	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Silent_p.K169K|CNKSR3_uc003qpw.3_Silent_p.K299K|CNKSR3_uc003qpx.3_Silent_p.K298K|CNKSR3_uc010kjh.3_Silent_p.K299K|CNKSR3_uc021zhd.1_Silent_p.K343K|CNKSR3_uc021zhe.1_Silent_p.K273K	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	454					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TGTCCATGATCTTTGATCCAG	0.323000														50			10		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273110	205273110	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:205273110G>A	uc001hce.3	-	6	1482	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	452					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGCTGTCGGGGCTTCTTGAG	0.642000														22			3		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531195	42531195	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:42531195G>A	uc010dni.3	+	3	2186	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	630						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAATTTAGCGAAGTTGGCCC	0.512000									Schinzel-Giedion syndrome					42			16		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939824	56939824	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:56939824C>T	uc002lhx.3	-	1	499	c.312G>A	c.(310-312)aaG>aaA	p.K104K	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	104					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CCCCGGGCTCCTTGGGGCAGT	0.697000														24			10		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:71209278G>A	uc001xmm.3	-	5	1357	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R190W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R147W|MAP3K9_uc001xml.3_Missense_Mutation_p.R453W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	453					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.R453L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627000														25			12		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620628	7620628	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:7620628C>T	uc003bqm.2	+	7	2309	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R679W|GRM7_uc003bql.2_Missense_Mutation_p.R679W|GRM7_uc003bqn.1_Missense_Mutation_p.R262W|GRM7_uc010hch.1_Missense_Mutation_p.R190W	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	679					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.R679Q(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAAAACAAATCGGATTTATCG	0.448000														45			14		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72921748	72921748	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72921748C>T	uc010wrp.2	+	2	503	c.411C>T	c.(409-411)atC>atT	p.I137I	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.I137I	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	137						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATCAAGATCCTGCACCCCC	0.537000														152			28		0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67424654	67424654	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:67424654T>G	uc001dde.2	+	5	756	c.622T>G	c.(622-624)Tat>Gat	p.Y208D	MIER1_uc010opf.1_Missense_Mutation_p.Y172D|MIER1_uc009way.2_Missense_Mutation_p.Y172D|MIER1_uc010opg.1_Missense_Mutation_p.Y172D|MIER1_uc001ddf.2_Missense_Mutation_p.Y172D|MIER1_uc001ddc.2_Missense_Mutation_p.Y208D|MIER1_uc001ddg.2_Missense_Mutation_p.Y128D|MIER1_uc001ddh.2_Missense_Mutation_p.Y92D|MIER1_uc001ddj.1_Missense_Mutation_p.Y155D|MIER1_uc001ddi.2_Missense_Mutation_p.Y155D	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	179	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCGATGTAAATATTTTGATAC	0.338000														22			8		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108476028	108476028	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:108476028C>T	uc003dxh.2	-	0	103	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	2					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGAGGACGGCCCCATCCTGTA	0.522000														40			20		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562369	136562369	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:136562369C>T	uc002tuu.1	-	9	4443	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1478	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAGTGTATCGATGAGCCTC	0.587000														26			18		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284281	159284281	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159284281G>A	uc010piu.2	-	0	169	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATGGGGGTGTGAAGATGATGG	0.458000														89			42		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692623	20692623	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20692623G>A	uc010tlc.2	+	0	755	c.755G>A	c.(754-756)cGa>cAa	p.R252Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GGTGCTGGTCGAACTAAAGCT	0.483000														25			7		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167552022	167552022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:167552022G>A	uc010jjd.3	+	10	2176	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	ODZ2_uc003lzr.4_Missense_Mutation_p.D494N|ODZ2_uc003lzt.4_Missense_Mutation_p.D90N|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCAGCTGCGATCCCAACTG	0.597000														6			7		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749598	49749598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:49749598C>T	uc001vcm.3	+	12	1756	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	FNDC3A_uc001vcn.3_Missense_Mutation_p.S484F|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.S410F|FNDC3A_uc001vcq.3_Missense_Mutation_p.S428F	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	484	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTGGTTATCCTTACAATGG	0.393000														28			8		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994916	51994916	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:51994916G>A	uc002pwx.1	-	7	1823	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	SIGLEC12_uc002pww.1_Silent_p.S471S|SIGLEC12_uc010eoy.1_Silent_p.S316S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	589					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTTGATCTCGGAGTACTCAT	0.542000														61			27		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042806	75042806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:75042806C>T	uc002ayr.1	+	1	791	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	243					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCCCATCCTTCGCTACCTGCC	0.557000														86			38		0	0	1	0	0
CYB5A	1528	broad.mit.edu	37	18	71930615	71930615	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:71930615G>A	uc002lli.3	-	1	368	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CYB5A_uc021ull.1_Missense_Mutation_p.S76F|CYB5A_uc002llh.3_Missense_Mutation_p.S76F	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	76	Cytochrome b5 heme-binding.				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GAATGTTTTGGACATTTCCCT	0.463000														35			16		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24483528	24483528	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:24483528C>T	uc002zzi.1	+	22	3514	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	CABIN1_uc021wnc.1_Silent_p.F1079F|CABIN1_uc002zzj.1_Silent_p.F1079F|CABIN1_uc002zzl.2_Silent_p.F1129F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1129					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACTGCTTCCGTCGGGCCC	0.557000														40			16		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454707	100454707	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:100454707C>T	uc003yiv.3	+	22	3400	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S	VPS13B_uc003yiw.3_Missense_Mutation_p.P1097S|VPS13B_uc003yiu.1_Missense_Mutation_p.P1097S|VPS13B_uc003yix.1_Missense_Mutation_p.P567S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1097					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTGACATTCCTGGAACAGT	0.408000														44			14		0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24651099	24651099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24651099G>A	uc003nej.3	-	6	1031	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F		NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	336					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AATCCAAGAAGGTCCAAACTT	0.388000								Direct reversal of damage						37			13		0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41646435	41646435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:41646435C>T	uc004dfl.4	-	2	320	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CASK_uc004dfm.4_Missense_Mutation_p.E92K|CASK_uc004dfn.4_Missense_Mutation_p.E92K	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	92	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACTCACAATTCGAAAACCATG	0.358000														12			24		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632730	158632730	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158632730C>T	uc001fst.1	-	16	2425	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	742					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	p.D741D(1)		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)					GGATATCCACCTGATCCTAAG	0.423000														39			14		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169099099	169099099	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169099099T>G	uc003irm.3	+	7	757	c.593T>G	c.(592-594)aTc>aGc	p.I198S	ANXA10_uc003irn.3_Missense_Mutation_p.I70S	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	198							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CTGCAAATGATCCTGTGCAAC	0.473000														64			18		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23928945	23928945	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:23928945G>A	uc001uon.2	-	7	2395	c.1806C>T	c.(1804-1806)gcC>gcT	p.A602A	SACS_uc001uoo.2_Silent_p.A455A|SACS_uc001uop.1_Silent_p.A389A|SACS_uc001uoq.1_Silent_p.A455A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	602					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		CTGGTACCTTGGCAATCTGCT	0.537000														46			23		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74327700	74327700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:74327700C>T	uc002skb.4	+	8	3380	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1127							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCTACCACTCCTACTATGCA	0.577000														10			6		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072499	234072499	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:234072499G>A	uc010zmo.2	+	10	1453	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	INPP5D_uc010zmp.2_Missense_Mutation_p.E433K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	463					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGTGGCTGGAGATCCTCAA	0.557000														30			44		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296110	20296110	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20296110T>A	uc010tkv.2	+	0	503	c.503T>A	c.(502-504)tTt>tAt	p.F168Y		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCTTGCCTTTTTGTGGCCCA	0.522000														270			33		0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270049	112270049	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:112270049C>T	uc001ebo.2	-	1	617	c.435G>A	c.(433-435)ttG>ttA	p.L145L	FAM212B_uc001ebp.2_Silent_p.L130L	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	145										cervix(1)|endometrium(1)	2						CCCGGGACATCAACGTGGAGG	0.587000														35			17		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112672959	112672959	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:112672959G>A	uc021reb.1	-	36	5831	c.5435C>T	c.(5434-5436)gCt>gTt	p.A1812V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GCCATCCACAGCCTCACTCTC	0.463000														21			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215568	140215568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140215568C>T	uc003lhq.2	+	0	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.Q534*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	548	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCAGTTCCAGGTGAGCGC	0.682000														130			33		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76126736	76126736	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:76126736C>T	uc011kgk.1	+	4	1171	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DTX2_uc003uff.4_Silent_p.S364S|DTX2_uc003ufg.4_Silent_p.S364S|DTX2_uc003ufh.4_Silent_p.S364S|DTX2_uc003ufj.4_Intron|DTX2_uc003ufk.4_Intron|DTX2_uc003ufl.1_Silent_p.S27S|DTX2_uc003ufm.4_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	364					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTCCCGCCTCCCGTCTGGCTT	0.557000														64			11		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140992397	140992397	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:140992397G>A	uc002tvj.1	-	89	14589	c.13617C>T	c.(13615-13617)ccC>ccT	p.P4539P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4539					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4538P(1)|p.P4538L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ttaggtagatgggcggcgctg	0.423000										TSP Lung(27;0.18)				47			19		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30694695	30694696	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:30694695_30694696CC>TT	uc003tbn.3	-	11	1299	c.1054_splice	c.e11-1	p.G352_splice	CRHR2_uc010kvw.2_Splice_Site_p.G352_splice|CRHR2_uc010kvx.2_Splice_Site_p.G351_splice|CRHR2_uc022abg.1_Splice_Site|CRHR2_uc010kvy.2_Splice_Site_p.G188_splice|CRHR2_uc003tbo.3_Splice_Site_p.G338_splice|CRHR2_uc003tbp.3_Splice_Site_p.G379_splice	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	352					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGAAGAAACCCTGGAAAGGA	0.594000														16			6		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480983	95480984	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:95480983_95480984GG>AA	uc004asp.1	-	4	2000_2001	c.1943_1944CC>TT	c.(1942-1944)acc>aTT	p.T648I	BICD2_uc004aso.1_Missense_Mutation_p.T648I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	648					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding	p.R647H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGCTCCGTGGTGCGGTCCAC	0.614000														131			56		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11332895	11332895	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11332895G>A	uc002mqs.4	-	26	3311	c.3270C>T	c.(3268-3270)gaC>gaT	p.D1090D	DOCK6_uc010xlq.2_Silent_p.D429D	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1090					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCTTGGGGTCCGGGGCTT	0.612000														13			3		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129120720	129120720	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:129120720C>T	uc011koy.2	+	18	2079	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	FAM40B_uc003vow.3_Missense_Mutation_p.S680F|FAM40B_uc011koz.2_Missense_Mutation_p.S172F	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	680										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAACATTCCCGGACCATG	0.433000														57			22		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:40958352G>A	uc003jmh.3	+	10	1592	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000														60			16		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150164	87150164	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87150164C>T	uc003uiz.2	-	22	3207	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	ABCB1_uc011khc.2_Missense_Mutation_p.R841Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	905	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACAACGGTTCGGAAGTTTTC	0.413000														29			13		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86948026	86948026	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:86948026G>A	uc001dlt.3	+	4	956	c.696G>A	c.(694-696)acG>acA	p.T232T	CLCA1_uc001dls.1_Silent_p.T171T	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	232					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCCGCCAGACGGAGAAGGCTT	0.428000														60			25		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919946	4919946	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:4919946G>A	uc001qng.3	+	0	1605	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	KCNA6_uc021qtr.1_Missense_Mutation_p.G247S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	247						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGACCGGGGGCTCCTCCTC	0.547000										HNSCC(72;0.22)				96			30		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861889	99861889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:99861889C>T	uc002szw.1	-	3	330	c.217G>A	c.(217-219)Gat>Aat	p.D73N	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.D73N|LYG2_uc002szx.1_Missense_Mutation_p.D73N	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	73					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	p.D73N(2)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GCCCTCAAATCCATCTCAGCA	0.488000														32			37		0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70156567	70156567	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:70156567C>A	uc001job.3	-	3	800	c.473G>T	c.(472-474)cGt>cTt	p.R158L	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Intron|RUFY2_uc010qiw.2_Missense_Mutation_p.R65L|RUFY2_uc001jod.1_Missense_Mutation_p.R123L|RUFY2_uc009xpv.1_Missense_Mutation_p.R6L|RUFY2_uc001joe.1_Missense_Mutation_p.R123L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	172	RUN.					nucleus	metal ion binding	p.R158H(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTAAGCAACGTAAGTAATC	0.368000														30			12		0.105934	0.106216	1	1	0
GPLD1	2822	broad.mit.edu	37	6	24450048	24450048	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24450048G>A	uc003ned.1	-	14	1526	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	GPLD1_uc010jpr.1_Missense_Mutation_p.P309L|GPLD1_uc010jps.1_Missense_Mutation_p.P472L	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	472						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCCACCGAGGGAGCTCCCAC	0.612000														60			24		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756641	122756642	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:122756641_122756642CC>TT	uc004etu.3	-	29	3784_3785	c.3752_3753GG>AA	c.(3751-3753)ggg>gAA	p.G1251E	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.G72E	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1251					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGCTTGAATTCCCTTTAGGTGT	0.322000														8			3		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90246318	90246318	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:90246318C>T	uc002boj.3	+	2	542	c.441C>T	c.(439-441)tcC>tcT	p.S147S	WDR93_uc002bok.4_Silent_p.S147S|WDR93_uc010bnr.3_Silent_p.S147S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	147					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTCACTTCCATCTGGGCCA	0.393000														85			37		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156812213G>A	uc010pht.2	-	17	3513	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000														68			28		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004214	65004214	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65004214C>T	uc021qlh.1	+	8	1464	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	SLC22A20_uc001odi.4_Non-coding_Transcript			A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 2, non-coding RNA.	476					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GACGGCGCCCCTGGTTACCAC	0.662000														62			27		0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167424307	167424307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:167424307C>T	uc003qvj.3	+	5	530	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.3_Missense_Mutation_p.L149F	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	149					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ttaGGGTGCACTTGATCTATC	0.323000			T	FGFR1	"""MPD, NHL"""									11			3		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511350	169511350	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:169511350C>T	uc001ggg.1	-	12	3123	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	993	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACTCTGCTTTCCAGGCTTGTT	0.473000														110			47		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737871	152737871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152737871C>T	uc021zhb.1	-	38	5924	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	SYNE1_uc003qot.4_Missense_Mutation_p.E1908K|SYNE1_uc003qou.4_Missense_Mutation_p.E1901K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1884K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1901					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATCAGACTCGTTCTTATTC	0.473000										HNSCC(10;0.0054)				32			11		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303843	151303843	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303843G>A	uc022cgz.1	-	0	250	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P84S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P84S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P84S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	84										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTCTGGGGAGGATTTGGT	0.547000														60			75		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152470621	152470621	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152470621G>A	uc021zhb.1	-	133	24856	c.24633C>T	c.(24631-24633)atC>atT	p.I8211I	SYNE1_uc003qos.4_Silent_p.I2735I|SYNE1_uc003qot.4_Silent_p.I8140I|SYNE1_uc003qou.4_Silent_p.I8211I|SYNE1_uc011eez.2_Silent_p.I413I|SYNE1_uc003qoq.4_Silent_p.I413I|SYNE1_uc003qor.4_Silent_p.I1111I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8211					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGCAGGCGGATCAGTTTCT	0.468000										HNSCC(10;0.0054)				43			25		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252465	46252465	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:46252465C>T	uc011bzc.1	-	9	1643	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	GABRA2_uc003gxc.3_Missense_Mutation_p.E406K|GABRA2_uc010igc.2_Missense_Mutation_p.E406K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	406					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTTTGCTTCAGCTGGCTTG	0.408000														155			59		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227926	3227926	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:3227926G>A	uc004crg.4	-	6	8475	c.8318C>T	c.(8317-8319)tCg>tTg	p.S2773L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2773	Ig-like C2-type 12.					extracellular region		p.S2773S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGATGCGACTTATCCGG	0.562000														25			16		0	0	1	0	0
CCDC99	54908	broad.mit.edu	37	5	169021419	169021419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:169021419G>A	uc003mae.4	+	5	982	c.703G>A	c.(703-705)Gat>Aat	p.D235N	CCDC99_uc010jjj.3_Missense_Mutation_p.D164N|CCDC99_uc011deq.2_Missense_Mutation_p.D52N|CCDC99_uc010jjk.3_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	235					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAAATCAAGATCTTCAGGT	0.363000														41			23		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534629	13534629	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:13534629C>T	uc001imm.2	-	4	960	c.663G>A	c.(661-663)ctG>ctA	p.L221L	BEND7_uc001imo.4_Silent_p.L234L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	273							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGGTGATTCCAGAACAATGC	0.473000														79			33		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728643	20728643	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:20728643C>T	uc002npa.3	-	3	546	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	122					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCACCTTACACTCATCTACAC	0.318000														24			6		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087554	27087554	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:27087554C>T	uc001bmv.1	+	4	2501	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	ARID1A_uc001bmt.1_Missense_Mutation_p.R710C|ARID1A_uc001bmu.1_Missense_Mutation_p.R710C|ARID1A_uc001bmw.1_Missense_Mutation_p.R327C	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	710					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCTCAGTCTCGCTCAGGACC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									37			14		0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530300	175530300	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:175530300G>A	uc003mdk.3	+	13	792	c.735_splice	c.e13+1	p.K245_splice	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	245										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGGAGGTGAAGGTCAGGCCAA	0.428000														241			32		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752109	21752109	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:21752109C>T	uc010iuc.2	-	11	2580	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	CDH12_uc011cno.1_Missense_Mutation_p.E668K|CDH12_uc003jgk.2_Missense_Mutation_p.E708K|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGTTATCTTCCATGGGTGGT	0.453000										HNSCC(59;0.17)				58			13		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991828	21991828	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:21991828G>A	uc001wbe.3	-	1	2316	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL2_uc010tly.2_Silent_p.F676F|SALL2_uc010tlz.1_Silent_p.F541F|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.F543F|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	678							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTGGCCCACGAAATGTGCAC	0.567000														45			21		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712649	70712649	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70712649G>A	uc010ttg.2	-	0	1870	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AAAGTAAAATGATCTTGGAGA	0.398000														40			15		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36498978	36498978	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:36498978G>A	uc002hpz.3	-	0	716	c.695C>T	c.(694-696)cCt>cTt	p.P232L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	232						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)				TTCCAGGAAAGGAGGAGACAG	0.602000														63			26		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996128	57996128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57996128C>T	uc010rkd.2	-	0	263	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGCAGAGTTCCAGGAAAGAC	0.537000														50			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182848	140182848	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140182848C>T	uc003lhf.2	+	0	2066	c.2066C>T	c.(2065-2067)cCg>cTg	p.P689L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P689L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGGCCCGGAAGCTGCA	0.637000														39			19		0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656161	47656161	+	Silent	SNP	G	A	A	rs36092288		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:47656161G>A	uc002ipa.3	+	1	542	c.258G>A	c.(256-258)ccG>ccA	p.P86P		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	86	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCAACCGCCCGAACCACAGCC	0.627000														28			44		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158745789	158745789	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:158745789G>A	uc003lxr.1	-	5	852	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	270	Fibronectin type-III.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAATGTCAGGGAGAAGTAGG	0.507000														47			18		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505722	27505722	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27505722C>T	uc002rjo.3	+	0	426	c.123C>T	c.(121-123)ccC>ccT	p.P41P	TRIM54_uc002rjn.3_Silent_p.P41P	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	41					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCTGCCCTGCCAACACA	0.602000														134			68		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817200	150817200	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150817200A>G	uc003wjg.1	+	7	1099	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E	AGAP3_uc003wje.1_Missense_Mutation_p.K138E|AGAP3_uc003wjf.1_Missense_Mutation_p.K366E|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Missense_Mutation_p.K546E|AGAP3_uc003wji.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	330	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCATCCGAAAGCAGTCCAA	0.667000														23			10		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287465	202287465	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:202287465G>A	uc001gxu.3	+	17	2034	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	LGR6_uc001gxv.3_Silent_p.G626G|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.G539G	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	678						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCCTATGGGAAGTCCCCCT	0.682000														12			7		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886004	88886004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:88886004G>A	uc003ydz.3	-	0	293	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	66										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAAGAGGAGGGATCCCAGCTA	0.517000														52			30		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100194381	100194382	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:100194381_100194382CC>TT	uc004axj.3	+	3	649_650	c.424_425CC>TT	c.(424-426)ccg>TTg	p.P142L	TDRD7_uc011lux.2_Missense_Mutation_p.P68L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TAATCCAGCACCGTTAAGAGAC	0.386000														75			18		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230863	206230863	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206230863C>T	uc001hds.2	+	1	1154	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	332					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCAACAGCTGCTGCAACCCCT	0.582000														22			4		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856581	62856581	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62856581C>T	uc002jey.2	-	10	4299	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	LRRC37A3_uc010wqg.1_Missense_Mutation_p.G346E|LRRC37A3_uc002jex.1_Missense_Mutation_p.G205E|LRRC37A3_uc010wqf.1_Missense_Mutation_p.G266E|LRRC37A3_uc010dek.1_Missense_Mutation_p.G234E|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1228						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACGGCGTTTCCCGCTAACTT	0.572000														95			44		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248921	55248921	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55248921C>T	uc001sgk.3	+	1	148	c.80C>T	c.(79-81)cCa>cTa	p.P27L		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	27	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						ACAGCTGCTCCAGCTGACACG	0.428000														16			4		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14533108	14533108	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:14533108A>G	uc010dln.3	-	4	1461	c.1007T>C	c.(1006-1008)cTa>cCa	p.L336P	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	336										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTGTCCAGATAGATCTTGAGA	0.363000														119			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068965	9068965	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9068965G>A	uc002mkp.3	-	2	18685	c.18481C>T	c.(18481-18483)Cct>Tct	p.P6161S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6163	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						ACCCCAGAAGGACCTGTTTGT	0.493000														39			12		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215202	141215202	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141215202G>A	uc002tvj.1	-	60	10616	c.9644C>T	c.(9643-9645)cCa>cTa	p.P3215L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3215					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCCCTGGAATATCTTG	0.418000										TSP Lung(27;0.18)				64			21		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815683	31815683	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:31815683G>A	uc001ivs.4	+	8	2929	c.2866G>A	c.(2866-2868)Gga>Aga	p.G956R	ZEB1_uc001ivr.4_Missense_Mutation_p.G738R|ZEB1_uc010qef.2_Missense_Mutation_p.G738R|ZEB1_uc001ivu.4_Missense_Mutation_p.G957R|ZEB1_uc010qeh.2_Missense_Mutation_p.G889R|ZEB1_uc001ivv.4_Missense_Mutation_p.G936R|ZEB1_uc001ivt.4_Missense_Mutation_p.G738R|ZEB1_uc009xlo.2_Missense_Mutation_p.G939R|ZEB1_uc009xlp.3_Missense_Mutation_p.G940R	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	956					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATTACATTCTGGAGAAAAGCC	0.383000														25			10		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789663	133789663	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:133789663G>A	uc001qgx.4	-	17	4188	c.3957C>T	c.(3955-3957)acC>acT	p.T1319T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1319	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGTGGTGGGGTCTCCGGTC	0.692000														9			3		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986186	6986186	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:6986186C>T	uc002knm.3	-	36	5423	c.5329G>A	c.(5329-5331)Gaa>Aaa	p.E1777K	LAMA1_uc010wzj.2_Missense_Mutation_p.E1253K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1777	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTGCTTTCCTGCATCTTT	0.473000														89			29		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956719	97956719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:97956719C>T	uc001kls.4	-	15	1374	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	BLNK_uc001kme.4_Missense_Mutation_p.R294Q|BLNK_uc001klt.4_Missense_Mutation_p.R290Q|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.R376Q|BLNK_uc001kly.4_Intron|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Intron|BLNK_uc001kmb.4_Missense_Mutation_p.R195Q|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.R317Q|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	399	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTCAATAAATCGCACAGGAAT	0.333000														31			13		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299291	125299291	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:125299291G>A	uc004euk.2	-	0	790	c.617C>T	c.(616-618)aCc>aTc	p.T206I		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	206								p.T206T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACAGCTACGGTGTCACTCAG	0.652000														14			20		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56142799	56142799	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:56142799G>T	uc002adj.3	-	9	2845	c.2545C>A	c.(2545-2547)Cgg>Agg	p.R849R	NEDD4_uc002adl.3_Silent_p.R430R|NEDD4_uc002adi.3_Silent_p.R777R|NEDD4_uc010ugj.2_Silent_p.R833R|NEDD4_uc010bfm.3_Silent_p.R832R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	849	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.R777W(1)|p.R430W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGCATGCCGGACTTCCCAG	0.458000														136			64		7.73544e-29	7.89468e-29	1	1	0
BBS7	55212	broad.mit.edu	37	4	122760816	122760816	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:122760816G>A	uc003ied.3	-	12	1525	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	BBS7_uc003iee.2_Silent_p.C447C	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	447					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R446W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TATCTGCCTGGCACCGATAAG	0.368000									Bardet-Biedl syndrome					18			3		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151970854G>A	uc003wla.3	-	6	1167	c.948C>T	c.(946-948)acC>acT	p.T316T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	316			T -> S (in dbSNP:rs10454320).		intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T316S(1)|p.G315G(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATCCTGAAAGGTGCCGGCTC	0.433000			N		medulloblastoma									158			8		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180389	42180389	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:42180389T>A	uc003baz.1	+	24	3159	c.3134T>A	c.(3133-3135)cTc>cAc	p.L1045H	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.L431H|MEI1_uc003bbc.1_Missense_Mutation_p.L413H|MEI1_uc010gym.1_Missense_Mutation_p.L378H|MEI1_uc003bbd.1_Missense_Mutation_p.L288H|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc011apf.1_Missense_Mutation_p.L59H|MEI1_uc010gyo.1_Missense_Mutation_p.L59H|MEI1_uc003bbg.2_Missense_Mutation_p.L59H	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1045							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTGAAGGCTCTCAGCTTTCCA	0.498000														33			11		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014938	53014938	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53014938C>T	uc002pzp.4	+	5	1548	c.1304C>T	c.(1303-1305)gCt>gTt	p.A435V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGTGGTAAGGCTTTTATTCAT	0.378000														50			18		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26570684	26570684	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:26570684C>T	uc001bls.1	+	2	214	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CEP85_uc001blr.3_Missense_Mutation_p.S28F|CEP85_uc010ofa.1_Intron	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	28						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAGGGCAGTTCCCTGGGGACT	0.507000														12			5		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42576563	42576563	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:42576563G>A	uc003clf.2	+	10	1231	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	VIPR1_uc021wwl.1_Silent_p.K328K|VIPR1_uc011azn.2_Silent_p.K342K|VIPR1_uc011azl.1_Silent_p.K321K|VIPR1_uc011azm.1_Silent_p.K159K|VIPR1_uc003clg.2_Silent_p.K14K	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	369					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGAAGTGAAGATGGTCTTTG	0.502000														123			39		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104902005	104902005	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:104902005G>A	uc001pim.4	-	3	340	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CASP1_uc001pig.3_Missense_Mutation_p.P21S|CASP1_uc021qpq.1_Missense_Mutation_p.P93S|CASP1_uc021qpr.1_Missense_Mutation_p.P21S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P114S|CASP1_uc021qpt.1_Missense_Mutation_p.P21S|CASP1_uc010rve.2_Missense_Mutation_p.P114S|CASP1_uc010rvf.2_Missense_Mutation_p.P21S|CASP1_uc010rvg.2_Missense_Mutation_p.P93S|CASP1_uc010rvh.2_Missense_Mutation_p.P21S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P93S|CASP1_uc021qpu.1_Missense_Mutation_p.P21S|CASP1_uc021qpv.1_Missense_Mutation_p.P93S|CASP1_uc021qpw.1_Missense_Mutation_p.P21S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P114S|CASP1_uc009yxj.3_Intron|CASP1_uc010rvk.2_Missense_Mutation_p.P75S|CASP1_uc010rvl.2_Missense_Mutation_p.P114S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	114					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACTGCCTGAGGAGCTGCAAGA	0.483000														15			9		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848948	117848948	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:117848948G>A	uc004bjj.4	-	2	1474	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TNC_uc010mvf.3_Silent_p.G354G|TNC_uc022bmj.1_Silent_p.G354G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	354	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACACCGGCCCTGGGTGT	0.617000														65			15		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563568	140563568	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140563568A>T	uc003liv.3	+	0	2589	c.1434A>T	c.(1432-1434)agA>agT	p.R478S		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACAGAGACTCAGGCA	0.647000														36			14		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171163	117171163	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:117171163A>T	uc003vjd.3	+	3	616	c.484A>T	c.(484-486)Aag>Tag	p.K162*	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	162	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGATTTATAAGAAGGTAAT	0.398000									Cystic Fibrosis					16			7		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990575	47990575	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47990575C>T	uc002xur.1	-	1	1688	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	KCNB1_uc002xus.1_Missense_Mutation_p.E508K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	508					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATCCCTGTTCCTTGGTTTCA	0.443000														151			102		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402909	65402909	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65402909G>A	uc001oey.2	+	30	5174	c.5174G>A	c.(5173-5175)cGa>cAa	p.R1725Q	PCNXL3_uc001oez.2_Missense_Mutation_p.R612Q|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1725						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTCAGCTTCCGAGTCATCAAG	0.662000														14			5		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113141782	113141783	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:113141782_113141783GG>AA	uc010mtz.3	-	43	10589_10590	c.10252_10253CC>TT	c.(10252-10254)cca>TTa	p.P3418L	SVEP1_uc010mty.3_Missense_Mutation_p.P1344L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3418	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTGAGCTGGTGGACCACATGAG	0.401000														32			10		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603324	48603324	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:48603324C>T	uc010wmr.2	+	13	2156	c.1994C>T	c.(1993-1995)gCc>gTc	p.A665V	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	628					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.P664I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGAGGAGGCCAGGCCAGGG	0.592000														103			27		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424635	6424635	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6424635C>T	uc001mdb.1	-	5	1055	c.955_splice	c.e5-1	p.D319_splice	APBB1_uc001mdd.3_Splice_Site_p.D99_splice|APBB1_uc001mdc.1_Splice_Site_p.D319_splice|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Splice_Site_p.D84_splice|APBB1_uc009yey.2_Splice_Site_p.D60_splice|APBB1_uc009yfa.2_Splice_Site_p.D60_splice|APBB1_uc010rag.1_Splice_Site_p.D60_splice|APBB1_uc009yfb.2_Splice_Site_p.D60_splice|APBB1_uc001mde.2_Splice_Site_p.D60_splice|APBB1_uc010rah.1_Splice_Site_p.D60_splice	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	319					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGGGTTCATCCTTGGGAAGGG	0.547000														36			17		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979306	124979306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:124979306C>T	uc010flu.3	+	1	471	c.107C>T	c.(106-108)tCc>tTc	p.S36F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S36F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	36	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTAGCATCCCTGCTCTCT	0.458000														5			9		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:55128600C>T	uc003pcl.3	+	3	1057	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000														15			10		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134258865	134258865	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:134258865G>A	uc003yuh.2	-	12	1435	c.849C>T	c.(847-849)ctC>ctT	p.L283L	NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Silent_p.L94L|NDRG1_uc003yug.2_Silent_p.L283L|NDRG1_uc010mee.2_Silent_p.L202L|NDRG1_uc010mef.2_Silent_p.L217L|NDRG1_uc011ljh.1_Silent_p.L111L|NDRG1_uc011lji.1_Silent_p.L30L	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	283					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTACCTTGAGGAGAGTGGTCT	0.438000			T	ERG	prostate									94			34		0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88902153	88902153	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:88902153C>T	uc010cid.3	-	7	997	c.756G>A	c.(754-756)ttG>ttA	p.L252L	GALNS_uc002fly.4_Silent_p.L246L|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	246						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GACTGGTGCCCAAGAAGGGTT	0.607000														32			20		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865515	6865515	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:6865515C>T	uc003gjr.4	+	6	3869	c.3406C>T	c.(3406-3408)Ccc>Tcc	p.P1136S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P1136S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1136							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGCAAATATTCCCATTCCTTC	0.438000														37			12		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013890	53013890	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53013890C>T	uc002pzp.4	+	5	500	c.256C>T	c.(256-258)Cac>Tac	p.H86Y		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAAGTGATCCACACAGGGAT	0.368000														79			25		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44523740	44523740	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:44523740C>T	uc002xqh.3	+	10	1484	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	CTSA_uc002xqj.4_Silent_p.I352I|CTSA_uc010zxi.2_Silent_p.I353I|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	352					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCCTCAACATCCCGGAGCAGC	0.607000														38			17		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38682284	38682284	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:38682284C>T	uc003gth.4	+	1	370	c.38C>T	c.(37-39)gCc>gTc	p.A13V	KLF3_uc003gtg.2_Missense_Mutation_p.A13V	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	13	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AAGCAAGAGGCCATGGACCCT	0.403000														81			30		0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20813132	20813132	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20813132C>T	uc001vxc.3	+	1	116	c.88C>T	c.(88-90)Cca>Tca	p.P30S	RPPH1_uc001vxa.1_5'Flank|PARP2_uc001vxb.1_Missense_Mutation_p.P30S|PARP2_uc001vxd.3_Missense_Mutation_p.P30S	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	30					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CAACACGGCTCCAGAAGACTC	0.418000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						56			14		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328704	152328704	+	Nonsense_Mutation	SNP	G	A	A	rs143786396		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152328704G>A	uc001ezw.4	-	2	1631	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	520	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGCTGTCCAAAACCA	0.512000														150			66		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186002490	186002490	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:186002490G>A	uc003fqa.3	-	6	1090	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DGKG_uc003fqb.3_Missense_Mutation_p.R185C|DGKG_uc003fqc.3_Missense_Mutation_p.R185C|DGKG_uc011brx.2_Missense_Mutation_p.R185C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCATAGAGGCGAAACATGACT	0.488000														34			16		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906504	129906504	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:129906504C>T	uc001lke.3	-	12	3795	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L	MKI67_uc001lkf.3_Silent_p.L840L|MKI67_uc009yav.1_Silent_p.L775L|MKI67_uc009yaw.1_Silent_p.L350L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1200	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGTTCCTGCCAGGTCCAGTT	0.502000														108			53		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085213	88085213	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:88085213G>A	uc011cdb.1	-	8	1941	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	KLHL8_uc003hql.1_Missense_Mutation_p.S519F|KLHL8_uc003hqm.1_Missense_Mutation_p.S443F|KLHL8_uc003hqn.1_Missense_Mutation_p.S336F|KLHL8_uc010ikj.1_Missense_Mutation_p.S168F	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	519										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTCAGAGGAGAATTATCATC	0.393000														36			12		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474167	55474167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:55474167G>A	uc001cye.3	+	3	1072	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	277						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AAAGGTGGAGGAGAAGGAGGC	0.597000														24			12		0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38855823	38855823	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:38855823C>T	uc002hvd.3	-	5	1291	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	412	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAGATCTCCTCCTCCAGGGCA	0.527000														83			43		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111966	197111966	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:197111966A>T	uc001gtu.3	-	2	1673	c.1416T>A	c.(1414-1416)ttT>ttA	p.F472L	ASPM_uc001gtv.3_Missense_Mutation_p.F472L|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	472					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAACTGCAGAAAATTTAGGAT	0.348000														68			35		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356428	22356428	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22356428C>T	uc021rph.1	+	1	191	c.89C>T	c.(88-90)tCt>tTt	p.S30F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.S30F|AV2S1A1_uc021rpi.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		GAGCAGAATTCTGGACCCCTC	0.512000														36			13		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131051	44131051	+	Silent	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44131051C>A	uc002oxc.1	-	3	433	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	128	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGACCTCCACCACAGGATTCT	0.667000														47			8		0.000442599	0.000445199	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315034	30315034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:30315034G>A	uc009xle.2	-	2	4180	c.4043C>T	c.(4042-4044)cCa>cTa	p.P1348L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1348L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1210L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1348				P -> R (in Ref. 6; AAH47548).						breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCCTCACCTGGGCACCAGAA	0.483000														74			25		0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64573726	64573727	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64573726_64573727CC>TT	uc001obj.3	-	6	1114_1115	c.1041_1042GG>AA	c.(1039-1044)gcggac>gcAAac	p.D348N	MEN1_uc001obk.3_Missense_Mutation_p.D348N|MEN1_uc001obl.3_Missense_Mutation_p.D308N|MEN1_uc001obm.3_Missense_Mutation_p.D343N|MEN1_uc001obn.3_Missense_Mutation_p.D348N|MEN1_uc001obo.3_Missense_Mutation_p.D348N|MEN1_uc001obq.3_Missense_Mutation_p.D348N|MEN1_uc001obr.3_Missense_Mutation_p.D348N	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	348	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.V347fs*21(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCGTGTCCGCCCAGGCCT	0.594000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		46			22		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489449	489449	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:489449C>T	uc001lpj.3	+	8	1080	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	302						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCTGGGTTCGCTTCGAGTG	0.687000														24			10		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117695433	117695433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:117695433G>A	uc004eqp.2	+	6	709	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	DOCK11_uc004eqq.2_5'UTR	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	216	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATTCAAAAGAATCGAAAGG	0.368000														17			20		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225360656	225360656	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:225360656C>T	uc010fwy.1	-	12	1806	c.1753G>A	c.(1753-1755)Ggt>Agt	p.G585S	CUL3_uc010zls.1_Missense_Mutation_p.G513S|CUL3_uc002vny.2_Missense_Mutation_p.G579S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	579					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTGTGCACCTCCAACACCA	0.333000														35			17		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11982654	11982654	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:11982654G>A	uc001atl.2	-	1	2117	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA2013_uc001atk.3_Intron	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	0						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAGCAAGGCCAAGGCCTC	0.617000														13			6		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704165	131704166	+	Missense_Mutation	DNP	GG	AA	AA	rs149091381		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131704165_131704166GG>AA	uc002tsa.1	+	3	903_904	c.384_385GG>AA	c.(382-387)acggga>acAAga	p.G129R	ARHGEF4_uc010fmw.1_Missense_Mutation_p.G775R|ARHGEF4_uc002tsb.1_Missense_Mutation_p.G129R|ARHGEF4_uc010fmx.1_Missense_Mutation_p.G129R|ARHGEF4_uc002trz.1_Missense_Mutation_p.G775R	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	129					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GTGCTCCAACGGGACTGAACCA	0.530000														36			51		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31776024	31776024	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:31776024G>A	uc001wrf.4	-	30	5065	c.4880C>T	c.(4879-4881)tCc>tTc	p.S1627F	HEATR5A_uc010ami.3_Missense_Mutation_p.S1232F	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1621							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAACTGAATGGAAGGTGATTC	0.383000														24			7		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846885	123846886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123846885_123846886CC>TT	uc001lfv.3	+	3	5230_5231	c.4870_4871CC>TT	c.(4870-4872)cca>TTa	p.P1624L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1624L|TACC2_uc010qtv.2_Missense_Mutation_p.P1624L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1624						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACAGGGGTTCCAGGACATGTG	0.574000														43			7		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796069	147796069	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:147796069C>T	uc003ikx.4	-	7	926	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TTC29_uc003ikw.4_Missense_Mutation_p.E200K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E200K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	200							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCAGCTTCCAGAAGCTGA	0.423000														21			7		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732584	92732584	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:92732584C>T	uc003umf.3	-	2	3097	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	SAMD9_uc003umg.3_Missense_Mutation_p.G943R|SAMD9_uc022ahg.1_Missense_Mutation_p.G943R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	943						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCAATTCCTAAGAATTTT	0.383000														28			13		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480728	27480728	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:27480728G>A	uc002dov.2	-	31	4998	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F	GTF3C1_uc002dou.3_Missense_Mutation_p.S1653F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1653						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGCCGGGGGAGTAGTAGCC	0.617000														23			10		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031981	94031981	+	Silent	SNP	C	T	T	rs139988203		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:94031981C>T	uc011cdt.2	+	3	870	c.612C>T	c.(610-612)atC>atT	p.I204I	GRID2_uc010ikx.3_Silent_p.I204I|GRID2_uc011cdu.2_Silent_p.I109I|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	204					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I204I(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAAACAACATCAATAAAATGA	0.418000														69			32		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9337893	9337893	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:9337893C>T	uc003jek.2	-	3	868	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	52	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCATTCTTCGCTCTGAACT	0.373000														38			12		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116122940	116122940	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:116122940G>A	uc004bhg.4	+	2	502	c.454G>A	c.(454-456)Gag>Aag	p.E152K	BSPRY_uc010muw.3_Missense_Mutation_p.E152K	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	152					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCACTGGGCCGAGGCGCTGCA	0.612000														11			4		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129137115	129137115	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:129137115G>A	uc003emg.3	-	2	826	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CAGCCGCGATGAACTCCTCCC	0.557000														19			8		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412121	154412121	+	Silent	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:154412121A>C	uc011efe.2	+	4	1480	c.957A>C	c.(955-957)ccA>ccC	p.P319P	OPRM1_uc011efd.2_Silent_p.P126P|OPRM1_uc011efc.1_Silent_p.P145P|OPRM1_uc003qpn.2_Silent_p.P226P|OPRM1_uc003qpo.1_Silent_p.P226P|OPRM1_uc011eff.1_Silent_p.P226P|OPRM1_uc011efg.1_Silent_p.P226P|OPRM1_uc011efi.2_Silent_p.P226P|OPRM1_uc011efh.1_Silent_p.P226P|OPRM1_uc003qpq.1_Silent_p.P226P|OPRM1_uc003qpr.2_Silent_p.P226P|OPRM1_uc003qpt.1_Silent_p.P226P|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.P126P|OPRM1_uc003qpu.2_Silent_p.P126P	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	226					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTCATCCAACCTGGTACT	0.383000														70			26		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490280	150490280	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150490280G>A	uc022apx.1	-	3	622	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM176B_uc003whu.4_Missense_Mutation_p.R166C|TMEM176B_uc003whv.4_Missense_Mutation_p.R129C|TMEM176B_uc003whw.4_Missense_Mutation_p.R166C	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCTGAGCGATCACACACA	0.507000														58			25		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391017	125391017	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125391017G>A	uc011lyz.2	-	0	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGAGGCTGGAAGTAGACAC	0.522000														51			18		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259573	29259573	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29259573G>A	uc010ezl.3	+	17	2936	c.2585G>A	c.(2584-2586)gGg>gAg	p.G862E	FAM179A_uc010ymm.2_Missense_Mutation_p.G807E|FAM179A_uc002rmr.4_Missense_Mutation_p.G389E|FAM179A_uc002rms.1_Missense_Mutation_p.G160E	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	862							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAACTCAGGGATTTACGCT	0.572000														24			12		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427753	47427753	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:47427753G>A	uc003gxh.3	+	8	1517	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	GABRB1_uc011bze.2_Silent_p.S311S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	381					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGAGTGGCTCGGAAGTGCTCA	0.597000														61			20		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84601024	84601024	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84601024G>A	uc004eer.2	-	5	711	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	POF1B_uc004ees.3_Missense_Mutation_p.H189Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	189							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATGTGATGATGGCATTGAGCC	0.433000														11			15		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790275	4790276	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4790275_4790276GG>AA	uc010qyl.2	-	0	872_873	c.872_873CC>TT	c.(871-873)ccc>cTT	p.P291L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	291						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTCGATGATGGGGTTGAGCAC	0.455000														51			7		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118533514	118533514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118533514C>T	uc001ehk.2	-	37	5559	c.5491G>A	c.(5491-5493)Gag>Aag	p.E1831K	SPAG17_uc021osr.1_Missense_Mutation_p.E341K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1831						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTAGTTTCCTCCATTTTAGGG	0.284000														68			24		0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26369133	26369133	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:26369133C>T	uc001blg.1	-	4	856	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SLC30A2_uc001blh.1_Silent_p.E164E	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	164					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGGGTTCTCCTCCTGCT	0.552000														46			16		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452985	138452985	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:138452985G>A	uc003ihe.4	-	0	645	c.258C>T	c.(256-258)atC>atT	p.I86I	PCDH18_uc003ihf.4_Silent_p.I79I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	86	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCCTATGCTGATTTCCCCAT	0.433000														110			33		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218034	204218034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204218034G>A	uc001hau.3	-	11	2056	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	580										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTCTGGGTAGGCGGGCTGGCT	0.577000														19			9		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371713	81371713	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81371713G>A	uc009xry.3	+	2	259	c.177G>A	c.(175-177)agG>agA	p.R59R	SFTPA1_uc001kap.3_Silent_p.R44R|SFTPA1_uc001kar.3_Silent_p.R44R|SFTPA1_uc001kaq.3_Silent_p.R44R|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Intron|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	44	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGCCAGGCAGGGACGGGAGAG	0.617000														49			17		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73039664	73039664	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:73039664G>A	uc001jro.3	+	1	617	c.166G>A	c.(166-168)Gac>Aac	p.D56N	UNC5B_uc001jrp.3_Missense_Mutation_p.D56N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	56	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGCCACAGGACGCCTACAT	0.617000														28			13		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84230618	84230618	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:84230618C>T	uc003hoj.4	-	6	1020	c.921G>A	c.(919-921)aaG>aaA	p.K307K	HPSE_uc003hoi.3_Silent_p.K249K|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Silent_p.K50K|HPSE_uc003hok.4_Silent_p.K307K|HPSE_uc011cct.2_Silent_p.K307K	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	307				K -> R (in Ref. 1; AAD45669, 2; AAD54941, 3; AAD41342, 4; AAD45379, 5; AAD54516, 8; AAX47106, 9; BAD96706 and 11; AAH51321).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAAAATCTTCCTTGGTAGCAG	0.289000														28			9		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045742	142045742	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142045742C>T	uc003vxp.4	+	1	379	c.270C>T	c.(268-270)agC>agT	p.S90S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GCCCCAACAGCTCTCACTTAT	0.507000														167			34		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118639110	118639110	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:118639110C>T	uc001twx.3	-	11	1273	c.978G>A	c.(976-978)gaG>gaA	p.E326E	TAOK3_uc001tww.3_Silent_p.E156E|TAOK3_uc001twy.4_Silent_p.E326E	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	326					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCCTCATCCTCCTGTGACT	0.378000														36			19		0	0	1	0	0
ODF3B	440836	broad.mit.edu	37	22	50968984	50968984	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50968984C>T	uc003bmh.2	-	6	824	c.687G>A	c.(685-687)cgG>cgA	p.R229R	TYMP_uc003bmb.4_5'Flank|TYMP_uc003bmc.4_5'Flank|TYMP_uc003bme.4_5'Flank|TYMP_uc010hbd.3_5'Flank|TYMP_uc003bmd.4_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.E206K	NM_001014440	NP_001014440	A8MYP8	ODF3B_HUMAN	Homo sapiens outer dense fiber of sperm tails 3B (ODF3B), mRNA.	229										lung(2)	2						CGCGGGGCTTCCGGTGCTGCG	0.736000														4			3		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35610568	35610568	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:35610568C>T	uc011dte.1	-	1	237	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	FKBP5_uc003okx.2_Missense_Mutation_p.E12K|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.E12K|FKBP5_uc003okz.2_Missense_Mutation_p.E12K	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	12					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTGGGGCTTTCTTCATTGTTC	0.403000														167			46		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909009	94909009	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:94909009G>A	uc001ydd.1	-	4	1263	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	401					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCTCCCAAAGGAGCAAGAGGA	0.567000														14			6		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325116	162325117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:162325116_162325117GG>AA	uc001gbv.2	+	6	1122_1123	c.735_736GG>AA	c.(733-738)aaggaa>aaAAaa	p.E246K	NOS1AP_uc010pkr.1_Missense_Mutation_p.E241K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E241K|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	246					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGTAGGGAAGGAAGGAGGCTC	0.559000														69			19		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369215	158369215	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158369215G>A	uc010pih.2	-	0	42	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AACCCACCAGGATGAACTGTG	0.438000														31			13		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534273	52534273	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:52534273C>T	uc010bff.3	-	19	2690	c.2528G>A	c.(2527-2529)gGa>gAa	p.G843E	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	843	IQ 4.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCCAGGAATCCTCGGCTGTA	0.547000														129			45		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601685	61601685	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:61601685G>A	uc002jay.3	+	1	342	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	KCNH6_uc002jax.1_Missense_Mutation_p.G88R|KCNH6_uc010wpl.2_Intron|KCNH6_uc010wpm.2_Missense_Mutation_p.G88R|KCNH6_uc002jaz.1_Missense_Mutation_p.G88R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	88					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGCCCTGCTGGGGGCTGAGGA	0.632000														100			18		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159856450	159856450	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159856450G>A	uc001fui.3	-	5	636	c.618C>T	c.(616-618)atC>atT	p.I206I	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.I121I|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.I206I	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	206						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGGCATCCCGGATGGCATGGC	0.473000														110			51		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373533	126373533	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126373533G>A	uc003ifj.4	+	8	11362	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K	FAT4_uc011cgp.2_Missense_Mutation_p.E2086K|FAT4_uc003ifi.1_Missense_Mutation_p.E1266K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGCATCAAAGAGATCCTTCT	0.463000														35			18		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:28509498C>T	uc002dqb.2	+	2	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000														11			6		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116264264	116264264	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:116264264T>C	uc003pwi.1	-	6	1672	c.1225A>G	c.(1225-1227)Aaa>Gaa	p.K409E		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	409	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATGCTGAATTTATTACTACGA	0.373000														15			6		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136899928	136899928	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:136899928C>T	uc004cew.3	-	10	2148	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T		NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	654						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTCGACTTGGCTGCCTGTTTC	0.602000			T	C15orf55	lethal midline carcinoma of young people									96			40		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895547	24895547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:24895547C>T	uc001upj.3	+	3	704	c.643C>T	c.(643-645)Cct>Tct	p.P215S	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	215	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAGCAAGTTTCCTTCTTCAGA	0.458000														29			4		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390454	21390454	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:21390454C>T	uc002kuq.3	+	12	1814	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	LAMA3_uc002kur.3_Silent_p.F576F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	576	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTATGATTTCCCCCACTGCC	0.562000														33			16		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275343	29275343	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29275343G>A	uc011dln.2	+	0	877	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTTACGGAATGATTCCATGAA	0.418000														81			23		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:1428361G>A	uc010nct.2	+	13	1514	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E398K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E398K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E265K|CSF2RA_uc004cpp.2_Missense_Mutation_p.G338E|CSF2RA_uc010ncv.2_Missense_Mutation_p.E432K|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000														144			51		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278379	21278379	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:21278379G>A	uc003zou.1	-	0		c.184C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		TCATCTCATGGAAAAGGAAGA	0.423000														12			8		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181047	65181047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:65181047G>A	uc002lke.1	-	1	2053	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.H277Y	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	267						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCAACAATATGATTCAATAGA	0.413000														71			25		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680408	159680408	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:159680408G>A	uc003lyb.1	-	6	1537	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	CCNJL_uc011dee.1_Missense_Mutation_p.P381S|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	429						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCGGTGGGGAACATGTGG	0.582000														34			13		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799553	17799553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:17799553C>T	uc003ncg.4	-	21	2894	c.2734G>A	c.(2734-2736)Gtg>Atg	p.V912M	KIF13A_uc003ncf.3_Missense_Mutation_p.V912M|KIF13A_uc003nch.4_Missense_Mutation_p.V912M|KIF13A_uc003nci.4_Missense_Mutation_p.V912M	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	912					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTGAAGGCACCTCGGGGTCC	0.522000														27			3		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2268246	2268246	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2268246C>T	uc001ajb.1	-	10	1101	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	MORN1_uc009vld.3_Silent_p.V336V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	360										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGCCCTGCTCCACTCGCTGAC	0.657000														19			10		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128725193	128725193	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:128725193C>T	uc003ifm.3	+	7	1189	c.936C>T	c.(934-936)tcC>tcT	p.S312S	HSPA4L_uc010iny.1_Silent_p.S271S|HSPA4L_uc011cgr.2_Silent_p.S279S	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	312					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGTGTGCTTCCCTTTTGGCCA	0.358000														43			11		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990385	89990385	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89990385C>T	uc003kju.3	+	32	7908	c.7812C>T	c.(7810-7812)acC>acT	p.T2604T	GPR98_uc003kjt.3_Silent_p.T310T|GPR98_uc003kjv.3_Silent_p.T204T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2604					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCCCAAACCTTGGTGGAGC	0.458000														181			60		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137531214	137531214	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:137531214G>A	uc003vtt.3	-	0	396	c.395C>T	c.(394-396)tCg>tTg	p.S132L	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	132					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTACCTGTACGAGACCTGCTT	0.687000														17			5		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387564	6387564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:6387564C>T	uc002gdd.4	-	4	474	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PITPNM3_uc010cln.3_Missense_Mutation_p.G72E|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	108					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTCGATGCTTCCCTGGGCTGG	0.572000														86			36		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609248	120609248	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120609248C>T	uc003vjn.3	+	8	1032	c.898C>T	c.(898-900)Cga>Tga	p.R300*	ING3_uc003vjo.3_Nonsense_Mutation_p.R74*|ING3_uc003vjp.3_Nonsense_Mutation_p.R300*|ING3_uc011kns.2_Nonsense_Mutation_p.R285*	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	300					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACGGAGTGGTCGAAAGAGCAA	0.448000														18			8		0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2237522	2237522	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2237522A>G	uc001aja.4	+	5	1903	c.1831A>G	c.(1831-1833)Aac>Gac	p.N611D		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	611					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGCCAAGCGTAACCTGCGGAA	0.667000														10			6		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482888	42482889	+	Missense_Mutation	DNP	GG	AA	AA	rs146606627		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:42482888_42482889GG>AA	uc002osh.3	-	11	1653_1654	c.1499_1500CC>TT	c.(1498-1500)gcc>gTT	p.A500V	ATP1A3_uc010xwf.2_Missense_Mutation_p.A511V|ATP1A3_uc010xwg.2_Missense_Mutation_p.A470V|ATP1A3_uc002osg.3_Missense_Mutation_p.A500V|ATP1A3_uc010xwh.2_Missense_Mutation_p.A513V			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	500					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCGCTCGGGGGCACCCTTCAT	0.619000														75			29		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158655957	158655957	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:158655957G>A	uc002tzn.3	-	2	479	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ACVR1_uc002tzm.3_Missense_Mutation_p.P17S|ACVR1_uc010fog.2_Missense_Mutation_p.P17S	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	17					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTAGGGGAGGGGAGAGCAATC	0.353000														23			30		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615459	52615459	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:52615459C>T	uc003pay.3	-	6	735	c.585G>A	c.(583-585)aaG>aaA	p.K195K		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	195	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GTAGAAACTTCTTCACTGTGG	0.453000														86			25		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69129923	69129923	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:69129923C>T	uc003xxv.1	+	37	4704	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1559					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCGTTACATCATGCAGGCTA	0.527000														16			13		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002221	98002221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98002221C>T	uc003dsj.1	+	0	490	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGCCTTAATTCATGAAGTCCT	0.348000														46			17		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821477	25821477	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:25821477G>A	uc003gru.4	-	7	1528	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	459						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCATACACAGATACTATTTC	0.418000														16			5		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141683	29141683	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29141683A>T	uc011dlm.2	+	0	373	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GGGCCCGGAAAAGACCATCTC	0.473000														136			43		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106790942	106790942	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:106790942C>T	uc021ser.1	-	620		c.17450G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCGCCAGCGT	0.587000														135			19		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6681967	6681967	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6681967G>A	uc002mfm.3	-	34	4397	c.4335C>T	c.(4333-4335)atC>atT	p.I1445I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1445	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAGGTAGATGATGAGGGTGT	0.517000														80			39		0	0	1	0	0
D21847	0	broad.mit.edu	37	14	22090699	22090699	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22090699C>T	uc001wbi.2	+	1	351	c.338C>T	c.(337-339)tCt>tTt	p.S113F						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		GACTCTGCCTCTTACTTCTGC	0.463000														25			5		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823624	114823624	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:114823624G>A	uc003ibq.1	-	1	2494	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	ARSJ_uc010imu.1_Missense_Mutation_p.P536S|ARSJ_uc010imv.1_Missense_Mutation_p.P364S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	536						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TCTTTGGGGGGATACCTGACC	0.498000														33			18		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381031	2381031	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:2381031G>A	uc002wfy.1	+	6	991	c.930G>A	c.(928-930)gtG>gtA	p.V310V	TGM6_uc010gal.1_Silent_p.V310V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	310					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACCTGAGTGTGGACAAATACG	0.617000														79			31		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870027	4870027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4870027G>A	uc010qyo.2	-	0	412	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGTAGTGGAGAGGTCGGCAG	0.522000														99			35		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155222393	155222393	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:155222393C>T	uc021xge.1	-	11	1896	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	PLCH1_uc021xgd.1_Missense_Mutation_p.G540E|PLCH1_uc021xgf.1_Missense_Mutation_p.G522E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	540					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTCTTTCCACTTTCCTT	0.318000														57			17		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11101606	11101606	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:11101606G>A	uc003sry.2	+	15	3000	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PHF14_uc011jxi.2_Missense_Mutation_p.E565K|PHF14_uc011jxj.2_Missense_Mutation_p.E565K	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	850							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGTTCCTAGAGAGAGAAGACA	0.353000														7			6		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604712	62604712	+	Missense_Mutation	SNP	G	A	A	rs139228211		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:62604712G>A	uc003peg.2	-	5	885	c.638C>T	c.(637-639)cCc>cTc	p.P213L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGTGGTGGGGGAGGAGGAAT	0.547000														46			13		0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100174769	100174769	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:100174769A>G	uc003dtx.4	+	3	1816	c.536A>G	c.(535-537)tAa>tGa	p.*179*		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	0										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGGCCTGAATAATACTCTGCT	0.463000														49			29		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267566	141267566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141267566G>A	uc002tvj.1	-	51	9301	c.8329C>T	c.(8329-8331)Cga>Tga	p.R2777*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2777	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCAATGTCGGGGCACGCAG	0.517000										TSP Lung(27;0.18)				53			55		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322780	55322780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55322780C>T	uc010rig.2	+	0	998	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCTTAAATCCCTTGCTCAAT	0.373000										HNSCC(20;0.049)				76			19		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229858	154229858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154229858C>T	uc001fep.4	+	19	2557	c.2390C>T	c.(2389-2391)cCg>cTg	p.P797L	UBAP2L_uc009wot.3_Missense_Mutation_p.P797L|UBAP2L_uc010pek.2_Missense_Mutation_p.P789L|UBAP2L_uc010pel.2_Missense_Mutation_p.P807L|UBAP2L_uc010pen.2_Missense_Mutation_p.P711L|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	797					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473000														49			25		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093412	30093412	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30093412C>T	uc010dmc.3	+	0		c.1787C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AGCTCCCTTGCTGAACCCTGA	0.527000														46			25		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928203	21928203	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:21928203G>A	uc001bev.3	-	17	1899	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	RAP1GAP_uc001bew.3_Silent_p.S606S|RAP1GAP_uc001bey.3_Silent_p.S568S|RAP1GAP_uc001bex.3_Silent_p.S542S	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	542					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCATCTCTGGGGAGCTCTGAG	0.667000														39			12		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984751	110984751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:110984751C>T	uc003ynr.4	-	1	1531	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	KCNV1_uc010mcw.3_Missense_Mutation_p.E243K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	243						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCCAGGATTTCCAGCAGCTGC	0.527000														55			22		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284087	223284087	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223284087G>A	uc021pjl.1	-	0	2287	c.2287C>T	c.(2287-2289)Ctt>Ttt	p.L763F	TLR5_uc001hnv.2_Missense_Mutation_p.L763F|TLR5_uc001hnw.2_Missense_Mutation_p.L763F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	763	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCATCTCTAAGGAAGTGTCTG	0.488000														41			17		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784508	143784508	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:143784508G>A	uc011ljv.2	+	3	635	c.218_splice	c.e3-1	p.K73_splice	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_Intron	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	73	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTTCCTATTAGAAATATTTCC	0.532000														18			11		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167160751	167160751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:167160751G>A	uc010fpl.3	-	5	1026	c.685C>T	c.(685-687)Cca>Tca	p.P229S	SCN9A_uc002udr.1_Missense_Mutation_p.P100S|SCN9A_uc002uds.1_Intron|SCN9A_uc002udt.1_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	229						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCTTACCTGGGATTACAGAA	0.373000														22			15		0	0	1	0	0
DQ656008	0	broad.mit.edu	37	11	5142422	5142422	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5142422C>T	uc001maa.3	-	3		c.977G>A								Homo sapiens clone Affy08256A04, mRNA sequence.																		GATAACAGATCGCTACACAGC	0.463000														24			9		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74706502	74706502	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:74706502G>A	uc001xpq.3	+	0	328	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	80	Pro-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGGGCTTCTGGGGCCCGGGGG	0.736000														9			5		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316461	176316461	+	Missense_Mutation	SNP	C	T	T	rs143604141	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176316461C>T	uc003mfa.3	-	7	927	c.835G>A	c.(835-837)Gat>Aat	p.D279N	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	279	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCATCATCGCTGAAGGAG	0.652000														41			13		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105085	207105085	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:207105085C>T	uc001hez.3	-	8	2255	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	PIGR_uc009xbz.3_Missense_Mutation_p.E691K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	691						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCCAAATTCCCTGGAGTTC	0.517000														89			28		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5751693	5751693	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5751693C>T	uc002mda.3	+	11	1084	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	341						integral to membrane											AAGACGTGGCCCTGATGTTCA	0.433000														23			13		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100478272	100478272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:100478272G>A	uc001tgq.3	-	9	1499	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.P424S|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.P74S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	424										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTGCTGGGGAGAGGCATGT	0.418000														63			22		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204216589	204216589	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204216589C>T	uc001hau.3	-	13	2142	c.1825_splice	c.e13-1	p.A609_splice	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	609										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGTCAGGGCCTACGGGGGAA	0.567000														15			5		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796666	21796666	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:21796666G>A	uc001wag.3	+	17	2979	c.2979G>A	c.(2977-2979)aaG>aaA	p.K993K	RPGRIP1_uc001wah.3_Silent_p.K635K|RPGRIP1_uc001wai.3_Silent_p.K319K|RPGRIP1_uc001wak.3_Silent_p.K468K|RPGRIP1_uc010aim.3_Silent_p.K376K|RPGRIP1_uc001wal.3_Silent_p.K352K|RPGRIP1_uc001wam.3_Silent_p.K310K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	993	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAAAGAAAGGAGAAGGAGC	0.433000														44			11		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8806976	8806976	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:8806976G>A	uc002knr.2	+	10	2664	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	SOGA2_uc002knq.2_Missense_Mutation_p.R800Q|SOGA2_uc002kns.2_Missense_Mutation_p.R171Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1151																	GAGCGTGCCCGACTACGGCTG	0.637000														22			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063026	21063027	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21063026_21063027CC>TT	uc010vbe.2	-	28	4202_4203	c.4202_4203GG>AA	c.(4201-4203)cgg>cAA	p.R1401Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATCACCAGCCGGGGGGAGTT	0.569000														104			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331897	70331897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:70331897C>T	uc001oqc.3	-	20	4415	c.4303G>A	c.(4303-4305)Gac>Aac	p.D1435N	SHANK2_uc010rqn.2_Missense_Mutation_p.D911N|SHANK2_uc001opz.3_Missense_Mutation_p.D906N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1122	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGTGGTGGTCGCTGCTACTC	0.582000														37			15		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704128	60704128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:60704128C>T	uc001nqi.3	+	10	3017	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S	TMEM132A_uc001nqj.3_Missense_Mutation_p.P941S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	941	Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCCTGGCCCTCCTGGGGGCAC	0.716000														18			3		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300662	56300662	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56300662C>T	uc010ygf.2	-	9	3328	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	NLRP11_uc002qlz.3_Missense_Mutation_p.E720K|NLRP11_uc002qmb.3_Missense_Mutation_p.E774K|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	873							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCTGCATCTTCTATTTTGTTG	0.443000														83			33		0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54483769	54483769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:54483769G>A	uc001cwm.1	-	0	35	c.17C>T	c.(16-18)cCc>cTc	p.P6L	LDLRAD1_uc010onz.1_Missense_Mutation_p.P6L|LDLRAD1_uc010ooa.1_Missense_Mutation_p.P6L|LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA.	6						integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						TCTCACCTGGGGGAAGACCTT	0.582000														35			11		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835398	172835398	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172835398C>T	uc003fin.4	-	1	308	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTGACATTTCCAGGATGTTA	0.378000														160			68		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220971238	220971238	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:220971238C>T	uc001hmt.3	+	3	883	c.635C>T	c.(634-636)cCa>cTa	p.P212L	MARC1_uc001hms.3_Missense_Mutation_p.P212L	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	212	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GACACCAGCCCATTCTTGATC	0.438000														44			11		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867198	107867198	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:107867198G>A	uc001dvh.4	+	2	1259	c.541G>A	c.(541-543)Gac>Aac	p.D181N	NTNG1_uc001dvc.4_Missense_Mutation_p.D181N|NTNG1_uc010out.2_Missense_Mutation_p.D181N|NTNG1_uc001dvf.4_Missense_Mutation_p.D181N|NTNG1_uc001dvd.1_Missense_Mutation_p.D181N	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	181	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTATGCCACAGACTGCTTAGA	0.428000														40			9		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74313579	74313579	+	Silent	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:74313579C>G	uc003dpm.1	-	21	3140	c.3060G>C	c.(3058-3060)ctG>ctC	p.L1020L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	1020					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CAATTAAGAACAGTACTATAG	0.353000														27			3		0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	160569	160569	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:160569G>A	uc002cfr.3	-	6	707	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Silent_p.L117L|NPRL3_uc021szm.1_Silent_p.L170L|NPRL3_uc021szn.1_Silent_p.L170L|NPRL3_uc002cfq.3_Silent_p.L16L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	195							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CACTTGGGCAGGATGTGATGG	0.522000														17			7		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952241	952241	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:952241G>A	uc003gbq.3	+	10	1570	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	TMEM175_uc003gbs.3_Missense_Mutation_p.G374D|TMEM175_uc003gbt.3_Missense_Mutation_p.G374D|TMEM175_uc003gbr.3_Missense_Mutation_p.G409D	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	491						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCACGGGCCAGGACGAC	0.731000														6			4		0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079521	122079522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:122079521_122079522CC>TT	uc021rff.1	+	1	1077_1078	c.884_885CC>TT	c.(883-885)ccc>cTT	p.P295L		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	293					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGGGACCACCCCCTGACGCCCG	0.624000														46			17		0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14204497	14204497	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14204497A>C	uc002myc.3	-	8	1073	c.873T>G	c.(871-873)gaT>gaG	p.D291E	PRKACA_uc002myb.3_Missense_Mutation_p.D283E	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	291	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTTCTTGATATCGTTGACCC	0.547000														105			41		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903428	90903428	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:90903428G>A	uc002bpk.4	+	3	551	c.365G>A	c.(364-366)gGa>gAa	p.G122E		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGGCAACATGGAACCCTTCCA	0.473000														38			9		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605745	171605745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:171605745G>A	uc001ghu.3	-	2	857	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	MYOC_uc010pmk.2_Missense_Mutation_p.P221S	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	279	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGGTGTAGGGGTAGGTGGGC	0.537000														47			23		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309897	22309897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22309897C>T	uc001wbx.2	+	1	382	c.281C>T	c.(280-282)tCc>tTc	p.S94F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		CAGTATATTTCCCTGCTCATC	0.493000														100			34		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1522302	1522302	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:1522302G>A	uc003skn.2	-	26	3684	c.3583C>T	c.(3583-3585)Ccg>Tcg	p.P1195S	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1195					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTCTCCTCCGGAAACCAGATG	0.637000														62			23		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29556163C>T	uc002hgg.3	+	20	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				13			25		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104339	93104339	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:93104339G>A	uc001pdq.3	+	6	782	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	CCDC67_uc001pdo.1_Missense_Mutation_p.E228K|CCDC67_uc001pdp.3_Missense_Mutation_p.E228K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	228										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTTCATTATTGAAAAACTGAA	0.348000														16			4		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192781	203192781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:203192781C>T	uc001gzn.2	-	4	418	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.D99N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	108					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTACCATATCTGTGAACCTG	0.537000														69			17		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453439	9453439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:9453439G>A	uc021wam.1	+	32	3332	c.3317G>A	c.(3316-3318)cGa>cAa	p.R1106Q	PLCB4_uc010gbx.3_Missense_Mutation_p.R1118Q|PLCB4_uc021wal.1_Missense_Mutation_p.R1106Q|PLCB4_uc002wnh.3_Missense_Mutation_p.R953Q	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1106					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTTTAGGCGAGTCAGGGAG	0.303000														32			23		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667612	63667612	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63667612G>A	uc011kdn.2	+	0	32	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCTGGAAGCCGAGAAATGGTG	0.577000														24			11		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984745	103984745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:103984745G>A	uc001tjw.3	+	1	338	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	51					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCAACCTTGGAGTCAAGTGC	0.423000														58			22		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782696	134782696	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:134782696G>A	uc003lav.3	-	0	343	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	35						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGAACTCTGGGGTTTCCCCA	0.597000														12			3		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5685080	5685080	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:5685080G>A	uc001qnm.2	-	23	2613	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	852						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAAAGGAGAGGGTGTGGT	0.512000														22			7		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:96447961G>A	uc001kjv.4	+	2	737	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C19_uc001kjw.4_Silent_p.G137G|CYP2C19_uc009xus.1_Silent_p.G2G|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	137					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGGATGGGGAAGAGGAGCA	0.473000														48			17		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027218	79027218	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79027218C>T	uc003kgc.3	+	1	2702	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	877						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCACCCCATCTGAATATGTT	0.473000														30			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757600	53757600	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:53757600G>A	uc003dgv.4	+	12	1969	c.1806G>A	c.(1804-1806)acG>acA	p.T602T	CACNA1D_uc003dgu.4_Silent_p.T622T|CACNA1D_uc003dgy.4_Silent_p.T602T|CACNA1D_uc003dgw.4_Silent_p.T269T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	602					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCACTGAGACGATCTTGGTGG	0.473000														191			57		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441931	223441931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223441931C>T	uc001hnx.3	-	2	1082	c.448G>A	c.(448-450)Gga>Aga	p.G150R	SUSD4_uc001hny.4_Missense_Mutation_p.G150R|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G150R|SUSD4_uc010pux.1_Missense_Mutation_p.G79R	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	150	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATCTTGAATCCTTCATGACAA	0.423000														42			25		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99913409	99913410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:99913409_99913410GG>AA	uc022aij.1	+	6	1387_1388	c.1203_1204GG>AA	c.(1201-1206)gaggat>gaAAat	p.D402N		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	402										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TAATCACAGAGGATCCTGTCAT	0.515000														123			45		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36163120	36163120	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:36163120C>T	uc003gsq.2	-	11	2564	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	ARAP2_uc003gsr.1_Missense_Mutation_p.M742I	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	742	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCTAGCATCCATTTTTAGAC	0.383000														40			6		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147677	6147677	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6147677C>T	uc002mef.1	+	2	515	c.288C>T	c.(286-288)tcC>tcT	p.S96S	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Silent_p.S96S|ACSBG2_uc002meh.1_Silent_p.S96S|ACSBG2_uc002mei.1_Silent_p.S46S|ACSBG2_uc010xiz.1_Silent_p.S96S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	96					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGCAAAATCCTTGATCAAGG	0.393000														54			23		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738942	138738942	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:138738942G>A	uc003esy.1	-	0	827	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	188	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCGGTAGGGGATGAACATA	0.637000														51			12		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43652381	43652381	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:43652381C>T	uc021omk.1	+	5	1119	c.973C>T	c.(973-975)Cct>Tct	p.P325S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.P314S|WDR65_uc001ciq.2_Missense_Mutation_p.P325S|WDR65_uc001cip.2_Missense_Mutation_p.P325S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	325										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCAGATTCCTGTGGACCC	0.453000														43			13		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627031	108627031	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:108627031G>A	uc003dxj.2	-	3	536	c.468C>T	c.(466-468)atC>atT	p.I156I	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.Q170*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	156	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CCATGCCATTGATAAATTCTT	0.393000														12			17		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441534	44441534	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:44441534A>C	uc002zcq.1	+	7	1030	c.842A>C	c.(841-843)cAc>cCc	p.H281P	PKNOX1_uc002zcp.1_Missense_Mutation_p.H281P|PKNOX1_uc011aex.1_Missense_Mutation_p.H164P	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	281							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTTCCAGCACATCGGGGTA	0.557000														36			15		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096710	51096710	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:51096710G>A	uc003tps.3	-	10	2439	c.2254C>T	c.(2254-2256)Cca>Tca	p.P752S	COBL_uc003tpr.4_Missense_Mutation_p.P695S|COBL_uc011kcl.2_Missense_Mutation_p.P695S|COBL_uc003tpp.4_Missense_Mutation_p.P481S|COBL_uc003tpq.4_Missense_Mutation_p.P636S|COBL_uc003tpo.4_Missense_Mutation_p.P237S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	695										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTTTCCCTGGGTTTTGGCCT	0.488000														46			21		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24417382	24417382	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:24417382C>T	uc001bin.4	-	11	1500	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	MYOM3_uc001bim.4_Missense_Mutation_p.R103Q|MYOM3_uc001bio.3_Missense_Mutation_p.R446Q|MYOM3_uc001bip.1_Missense_Mutation_p.R103Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	446	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCTCTCACCCGGAACCGATA	0.632000														65			22		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77488959	77488959	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:77488959C>T	uc002lnh.2	+	10	2617	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CTDP1_uc002lni.2_Intron|CTDP1_uc010drd.2_Nonsense_Mutation_p.Q824*|CTDP1_uc021ult.1_Nonsense_Mutation_p.Q705*	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	824					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCTGACGCTCAGGACGGAGA	0.527000														185			98		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:40554769G>A	uc003xnr.3	-	3	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_uc003xns.3_Missense_Mutation_p.T115I	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	115						nucleus	DNA binding|zinc ion binding	p.T115I(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507000														95			30		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700881	38700881	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:38700881C>T	uc010lwp.3	+	10	2575	c.2196C>T	c.(2194-2196)gcC>gcT	p.A732A	TACC1_uc003xma.3_Silent_p.A170A|TACC1_uc003xmb.4_Silent_p.A658A|TACC1_uc003xlz.3_Silent_p.A537A|TACC1_uc003xmc.4_Silent_p.A536A|TACC1_uc011lbz.2_Silent_p.A719A|TACC1_uc003xmf.4_Silent_p.A322A|TACC1_uc011lca.2_Silent_p.A715A|TACC1_uc011lcb.2_Silent_p.A508A|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Silent_p.A549A|TACC1_uc010lwq.3_Silent_p.A548A	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	732	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GATACCAGGCCCTGAAAATCC	0.393000														74			33		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285719	48285719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:48285719C>T	uc010rht.2	+	0	307	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTTTTCCCTCCATTTCTTTGG	0.498000														30			17		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222867	156222867	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156222867G>A	uc001foc.4	-	17	2654	c.2505C>T	c.(2503-2505)ctC>ctT	p.L835L		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	835					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GAGACACTTCGAGCTGGTGAG	0.662000														24			9		0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370213	1370213	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:1370213C>T	uc002clc.2	+	4	392	c.262C>T	c.(262-264)Cct>Tct	p.P88S	UBE2I_uc002cld.2_Missense_Mutation_p.P88S|UBE2I_uc002clf.2_Missense_Mutation_p.P88S|UBE2I_uc002clg.2_Missense_Mutation_p.P88S|UBE2I_uc002clh.1_Missense_Mutation_p.P88S|UBE2I_uc002cli.1_Missense_Mutation_p.P88S	NM_194261	NP_919237	P63279	UBC9_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA.	88				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	PML body|cytoplasm|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GAATGTGTACCCTTCGGGGAC	0.552000														35			18		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55185828	55185828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:55185828G>A	uc003jql.3	+	5	829	c.637G>A	c.(637-639)Gat>Aat	p.D213N	IL31RA_uc003jqk.3_Missense_Mutation_p.D213N|IL31RA_uc011cqj.2_Missense_Mutation_p.D71N|IL31RA_uc003jqm.3_Missense_Mutation_p.D194N|IL31RA_uc003jqn.3_Missense_Mutation_p.D213N|IL31RA_uc010iwa.1_Missense_Mutation_p.D181N|IL31RA_uc021xyq.1_Missense_Mutation_p.D194N|IL31RA_uc003jqo.3_Missense_Mutation_p.D71N	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	181	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAACCGTAAGGATAAAAACCA	0.453000														31			15		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794496	15794496	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:15794496C>G	uc002nbl.3	+	6	960	c.841C>G	c.(841-843)Cag>Gag	p.Q281E		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTCCCCACTCAGGGTATTGA	0.527000														79			29		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604026	102604026	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:102604026C>T	uc003vaq.2	-	7	1105	c.678G>A	c.(676-678)ttG>ttA	p.L226L	FBXL13_uc010liq.1_Silent_p.L41L|FBXL13_uc010lir.1_Silent_p.L226L|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.L226L|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	226										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACGAAAATTCAAACGCAGCA	0.328000														55			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221363	140221363	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140221363C>T	uc003lhs.2	+	0	457	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P153S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCGCTAGAGGG	0.478000														66			22		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179175	105179175	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:105179175C>T	uc004emd.3	+	20	3816	c.3513C>T	c.(3511-3513)ttC>ttT	p.F1171F	NRK_uc010npc.1_Silent_p.F839F	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1171							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACGCTGGATTCGTAGAAGTAC	0.373000										HNSCC(51;0.14)				21			50		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41557023	41557023	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:41557023C>T	uc003xok.3	-	22	2589	c.2505G>A	c.(2503-2505)agG>agA	p.R835R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.R151R|ANK1_uc003xoi.3_Silent_p.R835R|ANK1_uc003xoj.3_Silent_p.R835R|ANK1_uc003xol.3_Silent_p.R835R|ANK1_uc003xom.3_Silent_p.R876R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	835					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	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)			CATCAACATCCCTGGAATCCC	0.562000														86			29		0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226931	43226932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:43226931_43226932CC>TT	uc002iig.3	+	0	2248_2249	c.374_375CC>TT	c.(373-375)tcc>tTT	p.S125F		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	125					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGTCATGACTCCGAGGCCAGTA	0.658000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			11		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558780	140558780	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140558780G>A	uc011dai.2	+	0	1410	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	389	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTCAGGAGGATCTACCCTT	0.453000														54			27		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65558956	65558956	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:65558956G>A	uc002aoq.3	-	2	717	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PARP16_uc002aoo.3_Missense_Mutation_p.R155C|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	155	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TTTTCTAGGCGGCTACCATGA	0.488000														50			19		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588593	140588593	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140588593A>C	uc003liz.3	+	0	303	c.114A>C	c.(112-114)gaA>gaC	p.E38D	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	38	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATGGAGGAATTGCAGAGCG	0.522000														75			38		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012883	29012883	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29012883C>T	uc003nlw.2	-	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGGATCATCTCCATTTTTGGA	0.408000														45			34		0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130221	37130221	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:37130221A>G	uc002oem.3	-	5	1254	c.1026T>C	c.(1024-1026)ttT>ttC	p.F342F	ZNF461_uc002oen.3_Silent_p.F311F|ZNF461_uc010xtj.2_Silent_p.F319F	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGTAAGTTGAAAGCCACGAA	0.408000														17			6		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12637866	12637866	+	Silent	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:12637866A>C	uc002mty.3	-	3	1266	c.1056T>G	c.(1054-1056)gtT>gtG	p.V352V	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATGTGTTCGAACATTACTGG	0.408000														50			32		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843555	4843555	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4843555C>T	uc010qyn.2	+	0	940	c.940C>T	c.(940-942)Caa>Taa	p.Q314*		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCAGATTCAAAAGGCCAT	0.373000														74			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901560	13901560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:13901560C>T	uc003jfd.2	-	13	1895	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	618	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R618Q(2)		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)					AGGCTGGTTTCGAGCCAGAGG	0.473000									Kartagener syndrome					12			25		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96408008	96408008	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:96408008G>A	uc004aub.3	+	3	544	c.397G>A	c.(397-399)Gac>Aac	p.D133N	PHF2_uc011lug.1_Missense_Mutation_p.D16N	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	133					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCTAAGAAAGACGGGCTGGG	0.622000														52			14		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594265	140594265	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140594265G>A	uc003lja.1	+	0	757	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	190	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.512000														35			6		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52440151	52440151	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:52440151G>A	uc010tgr.1	-	0		c.69C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.E213K|CCDC70_uc021rjv.1_Missense_Mutation_p.E213K			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GCAGATGCTCGAAGATGGGCC	0.607000														43			18		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731166	21731166	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:21731166C>T	uc002gyy.3	+	1	593	c.468C>T	c.(466-468)ttC>ttT	p.F156F				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	308	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCAGATCTTCGTGAAGACCC	0.537000														42			20		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122414425	122414425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:122414425C>T	uc003efq.4	+	4	810	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	PARP14_uc021xdc.1_Missense_Mutation_p.P115S|PARP14_uc010hrk.3_Non-coding_Transcript	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.I250I(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTTTGAAAATCCCTATAATGG	0.378000														14			4		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438507	40438507	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:40438507C>T	uc003gvc.2	-	4	1991	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.P389P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	427						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTTCCAAATTCGGCACCAGTT	0.478000														93			35		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78601051	78601051	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:78601051G>A	uc004akc.2	+	2	839	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PCSK5_uc004ajy.2_Missense_Mutation_p.E101K|PCSK5_uc004ajz.3_Missense_Mutation_p.E101K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	101					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGACAGGTGGAATGGATCCA	0.438000														51			17		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585721	189585721	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189585721G>A	uc003fry.2	+	6	1071	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TP63_uc003frx.2_Missense_Mutation_p.E328K|TP63_uc003frz.2_Missense_Mutation_p.E328K|TP63_uc010hzc.1_Missense_Mutation_p.E328K|TP63_uc003fsa.2_Missense_Mutation_p.E234K|TP63_uc003fsb.2_Missense_Mutation_p.E234K|TP63_uc003fsc.2_Missense_Mutation_p.E234K|TP63_uc003fsd.2_Missense_Mutation_p.E234K|TP63_uc021xir.1_Missense_Mutation_p.E234K|TP63_uc010hzd.1_Missense_Mutation_p.E149K|TP63_uc003fse.1_Missense_Mutation_p.E209K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	328					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E328*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTACTCTGGAAACCAGAGA	0.408000										HNSCC(45;0.13)				17			8		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841908	230841908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:230841908C>T	uc001hty.4	-	2	1403	c.895G>A	c.(895-897)Gag>Aag	p.E299K	AGT_uc009xff.3_Missense_Mutation_p.E271K	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	299					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCCAGAACTCCTGGGGCTCG	0.587000														38			14		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273951	28273951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:28273951G>A	uc009xky.3	-	3	670	c.572C>T	c.(571-573)tCa>tTa	p.S191L	ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.S191L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	191							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GACTCACAATGAAATATGTTT	0.393000														12			5		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475656	51475656	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:51475656G>A	uc003dbe.2	-	7	956	c.771C>T	c.(769-771)acC>acT	p.T257T	VPRBP_uc021wys.1_Silent_p.T256T|VPRBP_uc003dbg.2_Silent_p.T257T	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	257					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCTCAGGTTTGGTTGTTGAGT	0.438000														174			71		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731695	109731695	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109731695C>T	uc021orb.1	+	9	1448	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	KIAA1324_uc009wex.2_Silent_p.T359T|KIAA1324_uc010ovg.2_Silent_p.T307T|KIAA1324_uc009wey.3_Silent_p.T322T|KIAA1324_uc001dwr.3_Silent_p.T59T	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	409					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAGACTGTACCCGCTGCCCTG	0.527000														76			20		0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147028	57147028	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57147028G>A	uc001njv.2	-	2	424	c.314C>T	c.(313-315)cCa>cTa	p.P105L		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	105					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGCACCTTGGACTTCCCTG	0.532000														81			27		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48040154	48040154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:48040154G>A	uc003csb.2	-	1	723	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MAP4_uc003csc.3_Missense_Mutation_p.P66L|MAP4_uc011bbf.1_Missense_Mutation_p.P66L|MAP4_uc003csf.3_Missense_Mutation_p.P66L|MAP4_uc003csg.3_Missense_Mutation_p.P66L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	66					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCTGAGCACGGTTTCTTCTT	0.403000														93			33		0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130587172	130587172	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:130587172G>A	uc004bsj.4	-	6	1311	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	ENG_uc011mam.2_Silent_p.L111L|ENG_uc004bsk.4_Silent_p.L300L	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	300					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCCTCCCCCAGGAGGCCTTGA	0.557000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					46			18		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021121	7021121	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7021121T>C	uc009yfh.1	-	2	2092	c.1793A>G	c.(1792-1794)cAc>cGc	p.H598R	ZNF214_uc001mfa.2_Missense_Mutation_p.H598R|ZNF214_uc010ray.1_Missense_Mutation_p.H598R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATGATTATTGTGAAGATGTGA	0.323000														30			14		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439483	145439483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145439483C>T	uc003lnt.3	+	8	1848	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S537F|SH3RF2_uc011dbm.1_Missense_Mutation_p.S22F|SH3RF2_uc003lnu.3_Missense_Mutation_p.S28F|SH3RF2_uc011dbn.1_Missense_Mutation_p.S28F|SH3RF2_uc011dbo.2_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	537							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGTAGGCTCCCTCAGACGC	0.627000														42			22		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154519928	154519928	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154519928G>A	uc009wow.3	+	11	1834	c.996G>A	c.(994-996)ggG>ggA	p.G332G	TDRD10_uc001ffd.3_Silent_p.G332G|TDRD10_uc001ffe.3_Silent_p.G253G	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	332							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCAAAGGGAAAATCACTG	0.527000														58			28		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17283614	17283614	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17283614C>T	uc010eak.3	+	12	2134	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	MYO9B_uc002nfi.3_Missense_Mutation_p.A661V|MYO9B_uc002nfj.1_Missense_Mutation_p.A661V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	661	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACATCGTGGCCCTGCTGCGG	0.672000														66			22		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473645	31473645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31473645G>A	uc003ntn.4	+	1	438	c.322G>A	c.(322-324)Gga>Aga	p.G108R	MICB_uc011dnm.2_Missense_Mutation_p.G76R|MICB_uc021yuq.1_Missense_Mutation_p.G76R|MICB_uc003nto.4_Missense_Mutation_p.G108R	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	108					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GGACCAGAAAGGAGGTGAGAG	0.562000														3			12		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110527	151110527	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:151110527A>G	uc001ewv.3	-	8	938	c.602T>C	c.(601-603)gTt>gCt	p.V201A	SEMA6C_uc001ewu.3_Missense_Mutation_p.V201A|SEMA6C_uc001eww.3_Intron|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	201	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			GCTTCTGTAAACTACAGCATC	0.622000														39			25		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976434	131976434	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131976434C>T	uc002tsn.2	+	0	511	c.459C>T	c.(457-459)ccC>ccT	p.P153P	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	153							ATP binding										GTAAAGTCCCCAGAAAGGATC	0.582000														24			54		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163228391	163228391	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:163228391C>T	uc002uch.2	-	15	3768	c.3539G>A	c.(3538-3540)gGa>gAa	p.G1180E		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1180					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCCACGATTCCTACAGTGCT	0.413000														18			26		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35517115	35517115	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:35517115C>T	uc021rid.1	+	0	692	c.158C>T	c.(157-159)tCg>tTg	p.S53L	NBEA_uc021ric.1_Missense_Mutation_p.S53L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	53						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGCTCCGGCTCGGTGATGCTC	0.682000														39			6		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923856	2923857	+	Missense_Mutation	DNP	GC	CT	CT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:2923856_2923857GC>CT	uc010ckd.3	+	18	1808_1809	c.1718_1719GC>CT	c.(1717-1719)ggc>gCT	p.G573A	RAP1GAP2_uc010cke.3_Missense_Mutation_p.G558A	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	573					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTGCACACGGGCTCAGAAGGCC	0.634000														14			4		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813815	106813815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:106813815C>T	uc003ymd.3	+	7	1528	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S233F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	502					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTCAGTTTTCTTTCCCCCAA	0.488000														133			33		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160732139	160732139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:160732139C>T	uc002ubb.4	-	11	1864	c.1790G>A	c.(1789-1791)tGc>tAc	p.C597Y	LY75-CD302_uc010fos.3_Missense_Mutation_p.C597Y|LY75-CD302_uc002ubc.4_Missense_Mutation_p.C597Y|LY75-CD302_uc010fot.2_Missense_Mutation_p.C597Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	597	C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CATAGCCACGCAGCCGCCCGG	0.428000														44			70		0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76582156	76582156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:76582156G>A	uc003hir.3	-	4	559	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	G3BP2_uc003his.3_Missense_Mutation_p.R132C|G3BP2_uc003hit.3_Missense_Mutation_p.R132C	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	132	NTF2.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTTCATAACGAAACATATCA	0.323000														95			35		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:75078435G>A	uc001dgg.3	-	8	1278	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.F147F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000														37			14		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19679948	19679948	+	Splice_Site	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:19679948A>T	uc022asn.1	+	5	573	c.442_splice	c.e5-2	p.V148_splice	INTS10_uc003wzj.3_Splice_Site_p.V148_splice	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	148					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GTTTTGAAATAGGTTGGCCTT	0.318000														23			6		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026289	26026289	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:26026289G>A	uc010ayu.3	-	1	637	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	177					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	p.F177L(2)|p.F177_P178>LT(2)		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)		TGTCCGCAGGGAAGATTTCGT	0.527000														46			15		0	0	1	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783267	22783267	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22783267G>T	uc001wdq.2	+	1	270	c.263G>T	c.(262-264)gGa>gTa	p.G88V	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		TTCGGAGGCGGAAATATTAAA	0.453000														47			34		4.39465e-27	4.48268e-27	1	1	0
CA4	762	broad.mit.edu	37	17	58235697	58235697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:58235697G>A	uc002iym.4	+	6	728	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	212					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCCCAAGGAGGAGAAACTGAG	0.582000														27			34		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51760091	51760091	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:51760091T>C	uc001csl.3	-	13	1451	c.1346A>G	c.(1345-1347)aAc>aGc	p.N449S	TTC39A_uc001csk.3_Missense_Mutation_p.N414S|TTC39A_uc010ond.2_Missense_Mutation_p.N386S|TTC39A_uc010one.2_Missense_Mutation_p.N413S|TTC39A_uc010onf.2_Missense_Mutation_p.N417S|TTC39A_uc001csj.3_Missense_Mutation_p.N50S	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	449							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGAGATAGGGTTGGAGGAGAA	0.582000														21			14		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422615	26422615	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:26422615C>T	uc003abz.1	+	42	6925	c.6675C>T	c.(6673-6675)tcC>tcT	p.S2225S	MYO18B_uc003aca.1_Silent_p.S2106S|MYO18B_uc010guy.1_Silent_p.S2107S|MYO18B_uc010guz.1_Silent_p.S2105S|MYO18B_uc011aka.1_Silent_p.S1379S|MYO18B_uc011akb.1_Silent_p.S1738S|MYO18B_uc010gva.1_Silent_p.S208S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2225						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.P2224T(1)|p.A2225D(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACCTGCTTCCTCTCCCCTGG	0.567000														28			9		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142865	115142865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:115142865G>A	uc001efd.1	-	14	2767	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	DENND2C_uc001eez.3_Intron|DENND2C_uc001efc.1_Missense_Mutation_p.L632F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	689	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTCCAAAAGGAGAGAGGCA	0.403000														30			7		0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39064102	39064102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39064102C>T	uc003awb.3	+	2	319	c.43C>T	c.(43-45)Cct>Tct	p.P15S	CBY1_uc011any.1_Missense_Mutation_p.P15S|CBY1_uc003awc.3_Missense_Mutation_p.P15S	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	15					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					GAAGACACCTCCTCGGAAGTC	0.532000														40			17		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428932	48428932	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:48428932G>T	uc001jfb.3	-	1	1382	c.954C>A	c.(952-954)ttC>ttA	p.F318L	GDF10_uc009xnp.3_Missense_Mutation_p.F317L|GDF10_uc009xnq.2_Missense_Mutation_p.F318L	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	318					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGCTTGTGGAAGTGCTGTG	0.721000														20			6		0.0215528	0.0216216	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107923973	107923973	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:107923973G>A	uc022ccg.1	+	44	4209	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	COL4A5_uc004enz.1_Missense_Mutation_p.G1330E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1330	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGTTCCAGGATTCCCAGGT	0.408000									Alport syndrome with Diffuse Leiomyomatosis					14			20		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303845	151303845	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303845G>A	uc022cgz.1	-	0	248	c.248C>T	c.(247-249)cCt>cTt	p.P83L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P83L|MAGEA10_uc004ffm.2_Missense_Mutation_p.P83L|MAGEA10_uc004ffl.3_Missense_Mutation_p.P83L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTGGGGAGGATTTGGTGT	0.542000														58			75		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921619	130921619	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:130921619G>A	uc001uil.2	-	9	2039	c.1823C>T	c.(1822-1824)cCc>cTc	p.P608L	RIMBP2_uc001uim.3_Missense_Mutation_p.P516L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	608	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTGGTTTCGGGGACTCCAGA	0.642000														19			7		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44672663	44672663	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:44672663C>T	uc003cnm.3	+	2	706	c.500C>T	c.(499-501)cCg>cTg	p.P167L	ZNF197_uc003cnn.3_Missense_Mutation_p.P167L|ZNF197_uc003cno.3_Non-coding_Transcript|ZNF197_uc003cnp.3_Missense_Mutation_p.P167L	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAATTTGCCCGCATCCTCCT	0.527000														54			18		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70884520	70884520	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:70884520C>T	uc002ezr.3	-	73	12630	c.12479G>A	c.(12478-12480)gGa>gAa	p.G4160E	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4161			E -> Q (in dbSNP:rs1798314).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCACATCTCCTTCCTGCTT	0.408000														10			9		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994303	208994303	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:208994303C>T	uc002vco.4	-	1	152	c.114G>A	c.(112-114)gtG>gtA	p.V38V	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	38	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCCGCTCTCCACCCGGATGG	0.602000														52			83		0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46521614	46521614	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:46521614G>A	uc010olw.2	-	6	949	c.932C>T	c.(931-933)tCa>tTa	p.S311L	PIK3R3_uc001cpb.4_Missense_Mutation_p.S265L|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Missense_Mutation_p.S282L|PIK3R3_uc001cpc.4_Missense_Mutation_p.S265L|PIK3R3_uc010olv.2_Missense_Mutation_p.S55L	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	265					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					ACCCAGACGTGATTTCAATTT	0.348000														26			6		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283720	40283720	+	Silent	SNP	C	T	T	rs143952812		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:40283720C>T	uc003ayg.3	-	1	284	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	11	ENTH.							p.V11V(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGTAATTTTTCACAAAGTTTT	0.398000														39			9		0	0	1	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37769949	37769949	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:37769949A>G	uc004aai.3	+	5	662	c.585A>G	c.(583-585)acA>acG	p.T195T	RG9MTD3_uc011lqo.2_Silent_p.T144T|RG9MTD3_uc011lqp.2_Silent_p.T117T|RG9MTD3_uc011lqq.2_Silent_p.T84T|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Silent_p.T100T	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	195							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		TAGACATAACAGAAGAAGACT	0.458000														85			34		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453842	84453842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:84453842C>T	uc001vlk.3	-	0	2687	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	601						integral to membrane		p.E601V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCGGTCTCCGCCAACCCA	0.572000														12			6		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651560	96651560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:96651560C>T	uc003pop.4	+	2	870	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	FUT9_uc021zcw.1_Missense_Mutation_p.P177S	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAGCACAAATCCCTTCGTGTT	0.458000														15			13		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119128	1119128	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1119128A>T	uc002lrk.4	-	13	1647	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K	SBNO2_uc002lrj.4_Missense_Mutation_p.M413K|SBNO2_uc010dse.3_Missense_Mutation_p.M463K|SBNO2_uc010dsf.3_Missense_Mutation_p.M413K	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	470					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGACCTTCATGTCCATGGC	0.667000														15			5		0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11409563	11409563	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11409563G>C	uc002mqv.1	+	2	433	c.283G>C	c.(283-285)Gtt>Ctt	p.V95L	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	95						integral to membrane		p.V95A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTGTCAATGGTTATTGTCCT	0.512000														71			19		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579531	43579531	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43579531A>C	uc002ovr.3	-	2	856	c.684T>G	c.(682-684)agT>agG	p.S228R	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	228	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R227C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGACTGGGTCACTGCGGCTGG	0.527000														231			73		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:40137207G>A	uc021qgf.1	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_uc001mxc.1_Silent_p.I208I|LRRC4C_uc001mxd.1_Silent_p.I208I|LRRC4C_uc001mxa.1_Silent_p.I212I|LRRC4C_uc001mxb.1_Silent_p.I208I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	212					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAGGTTAGGGATTTCCCGAA	0.458000														40			20		0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828104	94828104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:94828104G>A	uc010qns.2	+	5	1219	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	CYP26C1_uc009xud.3_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	407					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGGCTGGAGCGTGATGTATAG	0.652000														48			13		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654399	159654399	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159654399T>C	uc010kjv.3	+	10	3055	c.2855T>C	c.(2854-2856)gTt>gCt	p.V952A	FNDC1_uc010kjw.1_Missense_Mutation_p.V837A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	952						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTCAGGATGTTCAACAGAGC	0.622000														15			5		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453307	129453307	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:129453307G>A	uc011maa.2	+	2	526	c.519G>A	c.(517-519)aaG>aaA	p.K173K	LMX1B_uc004bqi.3_Silent_p.K173K|LMX1B_uc004bqj.3_Silent_p.K173K	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	150					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGAAGGAGAAGGACCTGCTCA	0.657000									Nail-Patella Syndrome					15			5		0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504079	178504079	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178504079A>G	uc003mju.3	+	3	277	c.162A>G	c.(160-162)ccA>ccG	p.P54P		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGGGATTCCATTTTCAATGC	0.443000														24			12		0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73240699	73240700	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:73240699_73240700CC>TT	uc002jni.2	-	4	339	c.300_splice	c.e4+1	p.K100_splice	GGA3_uc002jnk.2_Splice_Site_p.K28_splice|GGA3_uc002jnj.2_Intron|GGA3_uc010wry.2_Splice_Site_p.K28_splice|GGA3_uc010wrw.2_Intron|GGA3_uc010wrx.2_Intron|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	100	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CGCTGACTGACCTTTGGAGAGA	0.480000														187			36		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623549	143623549	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:143623549C>T	uc003ywm.3	+	26	4137	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1318					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAAGTCCTCCTTCGTCGGTG	0.657000														58			22		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030465	18030465	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:18030465G>A	uc021trm.1	+	5	4237	c.4018G>A	c.(4018-4020)Gag>Aag	p.E1340K	MYO15A_uc021trl.1_Missense_Mutation_p.E1340K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1340	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGAAACGGGAGGTCATGCA	0.577000														24			6		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201369	132201369	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:132201369C>T	uc002tst.2	-	0	1099	c.633G>A	c.(631-633)agG>agA	p.R211R						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCAGCAGCTCCCTCAGGGTCC	0.592000														18			18		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54757240	54757240	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:54757240G>A	uc021qyp.1	-	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GPR84_uc001sfu.3_Silent_p.F132F	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCTTGGCACTGAAAACTTGGG	0.547000														29			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804247	152804247	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152804247C>T	uc021zhb.1	-	11	1546	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SYNE1_uc003qot.4_Silent_p.T448T|SYNE1_uc003qou.4_Silent_p.T441T|SYNE1_uc010kjb.1_Silent_p.T424T|SYNE1_uc003qpa.1_Silent_p.T441T|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	441					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGTTGTATCGTGTTTGCTG	0.502000										HNSCC(10;0.0054)				172			48		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113537	17113537	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:17113537C>T	uc001ioo.3	-	18	2565	c.2513G>A	c.(2512-2514)gGa>gAa	p.G838E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	838	CUB 4.				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)	GGTTCTTTCTCCAGGATACAC	0.453000														44			15		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877630	130877630	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:130877630G>A	uc010fmh.2	-	2	859	c.459C>T	c.(457-459)ccC>ccT	p.P153P		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	153						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATCCTTTCTGGGGACTTTAC	0.582000														82			4		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365689	7365689	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7365689G>A	uc002ghc.4	-	3	2862	c.2612C>T	c.(2611-2613)cCt>cTt	p.P871L	ZBTB4_uc002ghd.4_Missense_Mutation_p.P871L	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTCCTGCACAGGTGGGTATAC	0.632000														41			8		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875558	247875558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247875558G>A	uc001idj.1	-	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S167S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCACAGAAGGACAGGCCACT	0.602000														68			30		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785353	209785353	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:209785353G>A	uc001hhd.3	+	10	1234	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	CAMK1G_uc001hhf.4_Missense_Mutation_p.G378S|CAMK1G_uc001hhe.3_Missense_Mutation_p.G378S	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	378						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGCCAGCATGGCCGCCGGCC	0.637000														75			27		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260332	44260332	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44260332G>A	uc010xcy.1	-	7	1480	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ST8SIA5_uc002lci.1_Silent_p.F115F|ST8SIA5_uc002lcj.1_Silent_p.F268F|ST8SIA5_uc010xcz.1_Silent_p.F237F	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	268					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCGGCGATTCGAAGTCGTCCA	0.617000														16			9		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617644	54617644	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:54617644G>A	uc022adk.1	+	3	820	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	VSTM2A_uc010kzf.3_Missense_Mutation_p.E139K	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	139	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAGCTTCAGGAACACAAGGC	0.522000														12			3		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22989409	22989409	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22989409G>A	uc010ajj.1	+	3	475	c.328_splice	c.e3-1	p.G110_splice	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfo.2_Splice_Site|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Splice_Site|TCRA_uc021rql.1_5'Flank|TCRA_uc001wfs.2_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 29.																		TATAACCAGGGAGGAAAGCTT	0.428000														62			29		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105830236	105830236	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:105830236G>A	uc001kxr.3	-	8	724	c.555C>T	c.(553-555)atC>atT	p.I185I	COL17A1_uc010qqv.1_Silent_p.I169I|COL17A1_uc009xxp.1_Silent_p.I185I	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	185	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P184P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTTCTTGGGGATGGGGAGTG	0.537000														55			30		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891646	18891646	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:18891646G>A	uc001rdy.3	+	0	602	c.444G>A	c.(442-444)aaG>aaA	p.K148K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	148					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCAAAAGTAAGGAGTACTTGA	0.383000														40			16		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190203543	190203543	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:190203543G>A	uc001gse.1	-	4	915	c.683C>T	c.(682-684)tCt>tTt	p.S228F	FAM5C_uc010pot.1_Missense_Mutation_p.S126F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	228						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACCAGAACAGAACTGACAGA	0.383000														34			16		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77844167	77844167	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:77844167C>T	uc021rks.1	-	6	1487	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTCTGTTTCTAATACGGGA	0.284000														70			38		0	0	1	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328340	21328340	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21328340C>T	uc010bwr.1	+	2		c.732C>T								Homo sapiens CRYM antisense RNA 1 (non-protein coding) (CRYM-AS1), non-coding RNA.																		ATCACAGCTTCCTTAATTTCT	0.418000														100			38		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488852	20488852	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:20488852G>A	uc001ytf.1	+	1		c.335G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GTTTCTGTTGGGACTGCTGGG	0.448000														55			7		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173027	51173027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:51173027G>A	uc021tif.1	-	1	3137	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C	SALL1_uc021tid.1_Missense_Mutation_p.R939C|SALL1_uc021tie.1_Missense_Mutation_p.R1036C|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1036					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAAAAGCCACGATTGCAAACT	0.448000														15			13		0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71533925	71533925	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:71533925C>T	uc011cse.2	-	5	390	c.354G>A	c.(352-354)ctG>ctA	p.L118L	MRPS27_uc003kca.4_Silent_p.L48L|MRPS27_uc003kbz.4_Silent_p.L104L|MRPS27_uc010iza.3_Silent_p.L48L|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	104						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCCAGTTTCTCAGGTACCAGC	0.413000														35			8		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870283	47870283	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47870283G>A	uc010xyn.2	+	6	1988	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	DHX34_uc010elc.1_Missense_Mutation_p.E462K	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	547						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCCTTCATCGAGCCCCCACC	0.612000														33			13		0	0	1	0	0
F3	2152	broad.mit.edu	37	1	95005851	95005851	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:95005851T>C	uc001dqr.3	-	1	395	c.174A>G	c.(172-174)gaA>gaG	p.E58E	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Silent_p.E58E|F3_uc001dqt.3_Non-coding_Transcript	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	58					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CGGGTTTGGGTTCCCACTCCA	0.358000														46			24		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936951	13936951	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:13936951C>T	uc001avd.3	+	2	548	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	PDPN_uc001avc.3_Missense_Mutation_p.H167Y|PDPN_uc009vob.3_Missense_Mutation_p.H49Y|PDPN_uc009voc.3_Missense_Mutation_p.H49Y|PDPN_uc001ave.3_Missense_Mutation_p.H49Y|PDPN_uc001avf.3_Missense_Mutation_p.H49Y	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	91					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		p.V166I(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		AAGCACAGTCCACGCGCAAGA	0.507000														52			14		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004661	248004661	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248004661C>T	uc001idn.1	-	0	538	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D180N(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCGGGAGGTCGCAGAAGAAA	0.507000														76			23		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353223	42353223	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:42353223G>A	uc010xwe.2	+	5	737	c.654G>A	c.(652-654)caG>caA	p.Q218Q	DMRTC2_uc002orr.1_Silent_p.Q95Q|DMRTC2_uc002ors.3_Silent_p.Q218Q	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	218	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCTCCCTCCAGCTGCCCACTC	0.572000														106			41		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73007710	73007710	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:73007710G>A	uc002avd.3	+	4	661	c.323G>A	c.(322-324)aGt>aAt	p.S108N	BBS4_uc010ukv.2_Missense_Mutation_p.S88N|BBS4_uc002avb.3_Missense_Mutation_p.S100N|BBS4_uc002avc.3_5'UTR	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	100	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGTCCTCAGAGTGCTGATAAC	0.453000									Bardet-Biedl syndrome					60			24		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050216	42050216	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:42050216G>T	uc001cgz.4	-	3	1466	c.253C>A	c.(253-255)Ccc>Acc	p.P85T	HIVEP3_uc001cha.4_Missense_Mutation_p.P85T|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	85					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTTCGATGGGGGGCCTTTTG	0.612000														155			56		5.86059e-21	5.9683e-21	1	1	0
PHRF1	57661	broad.mit.edu	37	11	601608	601609	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:601608_601609CC>TT	uc001lqe.3	+	9	1190_1191	c.1059_1060CC>TT	c.(1057-1062)accccg>acTTcg	p.P354S	PHRF1_uc010qwc.2_Missense_Mutation_p.P354S|PHRF1_uc010qwd.2_Missense_Mutation_p.P353S|PHRF1_uc010qwe.2_Missense_Mutation_p.P350S|PHRF1_uc009ybz.1_Missense_Mutation_p.P145S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	354	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAAGAAAACCCCGTCCGGACC	0.505000														45			14		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100929	168100929	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:168100929C>T	uc002udx.3	+	8	3116	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I834I|XIRP2_uc010fpq.3_Silent_p.I787I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	834					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						AAGAAGAAATCGTAAGAGGTG	0.363000														21			28		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19762738	19762738	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:19762738G>A	uc002ktt.1	+	4	1714	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	GATA6_uc002ktu.1_Missense_Mutation_p.M483I	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	483					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.M483I(2)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CACTTGCTATGAAAAAAGAGG	0.328000														15			5		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28511016	28511016	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:28511016G>A	uc001zbj.3	-	12	1809	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	HERC2_uc001zbl.1_Missense_Mutation_p.A263V	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	568					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCCCCCTCGGCAGTGATGGC	0.642000														38			13		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038231	43038231	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43038231G>A	uc001zqo.2	-	14	3936	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	TTBK2_uc010bcy.2_Missense_Mutation_p.S1097F|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1166	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGATGGTGAGGAACTAGACGT	0.582000														72			20		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821727	206821727	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206821727T>C	uc001hej.3	+	2	1352	c.1184T>C	c.(1183-1185)tTt>tCt	p.F395S	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.F375S	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	395	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATATGGAGTTTTGGCTGCATC	0.488000														91			37		0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497401	39497401	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39497401C>T	uc021wpt.1	+	2	437	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	APOBEC3H_uc021wps.1_Silent_p.L104L|APOBEC3H_uc021wpu.1_Silent_p.L104L|APOBEC3H_uc021wpv.1_Silent_p.L104L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	104					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CCATCTGAACCTGGGCATCTT	0.612000														38			16		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118042153	118042153	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118042153C>T	uc001ehd.1	+	10	2375	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	MAN1A2_uc009whg.1_Nonsense_Mutation_p.Q342*	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	552					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAGATACAGGCAGTGGGGCTG	0.468000														46			14		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720985	720985	+	Missense_Mutation	SNP	C	T	T	rs143577577		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:720985C>T	uc002cip.3	+	9	850	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	RHOT2_uc002ciq.3_Missense_Mutation_p.R138W|RHOT2_uc010bqy.3_5'UTR	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	245			R -> Q (in dbSNP:rs1139897).		apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGGGAGGACCGGCTGACCCT	0.697000														8			5		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746756	77746756	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:77746756T>C	uc002snr.3	-	2	654	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	LRRTM4_uc002snq.3_Missense_Mutation_p.Q80R|LRRTM4_uc002sns.2_Missense_Mutation_p.Q80R|LRRTM4_uc002snt.2_Missense_Mutation_p.Q81R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	80						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCGGCAAACTGATTGGATTT	0.418000														57			29		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468395	10468395	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:10468395G>A	uc003wtc.3	-	3	3442	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1071					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGCCCGCAGGCTCACCCTGC	0.687000														23			6		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806926	48806926	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:48806926C>T	uc002pir.2	-	7	1541	c.858G>A	c.(856-858)ttG>ttA	p.L286L	CCDC114_uc002piq.2_Silent_p.L95L|CCDC114_uc002pio.3_Silent_p.L323L|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Silent_p.L323L|CCDC114_uc002piu.1_Silent_p.L323L	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	286										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACTTCTGCACCAACAGGTCAG	0.642000														51			13		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283240	63283240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:63283240C>T	uc021vim.1	+	4	1130	c.854C>T	c.(853-855)cCg>cTg	p.P285L	OTX1_uc002scd.3_Missense_Mutation_p.P285L|OTX1_uc010ypt.2_Missense_Mutation_p.P219L	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	285	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCGCACCACCCGTTGAGCCAG	0.637000														50			22		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926219	50926219	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:50926219C>T	uc002psd.3	+	3	289	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SPIB_uc021uyc.1_Missense_Mutation_p.T69I|SPIB_uc002pse.3_Silent_p.N88N|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	88					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGCAGGGAACCTCGAACTGG	0.652000														44			12		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390257	150390257	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150390257T>A	uc003who.3	+	2	971	c.883T>A	c.(883-885)Tgc>Agc	p.C295S		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	295						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACAGCATGTGCAATTTGTT	0.318000														22			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685526	100685526	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100685526C>T	uc003uxp.1	+	2	10882	c.10829C>T	c.(10828-10830)tCt>tTt	p.S3610F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3610	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3609N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTCAGAGC	0.468000														82			29		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589646	140589646	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140589646C>T	uc003liz.3	+	0	1356	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	PCDHB12_uc011dak.2_Silent_p.I52I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I389I(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGACATCCCATTCGTGC	0.473000														35			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:24922597C>T	uc001ywo.3	+	0	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	528	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCCTCTTTCCTTCCTGACT	0.532000														123			45		0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150710649	150710649	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:150710649G>C	uc003qnx.2	+	1	480	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	IYD_uc003qnv.2_Missense_Mutation_p.E114Q|IYD_uc003qnu.2_Missense_Mutation_p.E114Q|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Intron	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	114					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGTCCCAATGGAAGTCATTGA	0.403000														54			19		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801057	46801057	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:46801057G>A	uc011dwh.1	+	9	1483	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	MEP1A_uc010jzh.1_Missense_Mutation_p.G464E|MEP1A_uc011dwg.1_Missense_Mutation_p.G186E|MEP1A_uc011dwi.1_Missense_Mutation_p.G364E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	464	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G491A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATTCGGAGGGATATGGTTTT	0.493000														93			20		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983449	97983449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:97983449G>A	uc003dsi.1	+	0	321	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGTAAGATGATATCTCTCT	0.398000														65			32		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706118	30706118	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:30706118G>A	uc003xil.3	-	0	416	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	139										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATTGGGAGGTATACAGTC	0.408000														56			21		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89574082	89574082	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:89574082C>T	uc003hrw.1	+	5	692	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	HERC3_uc003hrv.3_Missense_Mutation_p.P176S|HERC3_uc011cdn.1_Missense_Mutation_p.P58S	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	176					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAAGGAGTTCCCCTCCCAAGC	0.562000														25			10		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170485	11170485	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11170485C>T	uc010dxp.3	+	33	5052	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	SMARCA4_uc010dxo.3_Silent_p.I1596I|SMARCA4_uc002mqf.4_Silent_p.I1564I|SMARCA4_uc010dxq.3_Silent_p.I1531I|SMARCA4_uc010dxr.3_Silent_p.I1530I|SMARCA4_uc002mqj.4_Silent_p.I1534I|SMARCA4_uc010dxs.3_Silent_p.I1533I|SMARCA4_uc002mqh.4_Silent_p.I654I	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1564					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGAAAATCgagaaggagg	0.592000			"""F, N, Mis"""		NSCLC									10			4		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009233	120009233	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:120009233C>T	uc011muc.2	-	0	547	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	98	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ttcccctcttcctcctcctcc	0.697000														6			9		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38926062	38926062	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:38926062C>T	uc002hvf.3	-	4	959	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	305	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGTTTTAATTCGGTCAGCTCA	0.448000														55			34		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792960	131792960	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:131792960G>A	uc003ytd.4	-	17	3688	c.3432C>T	c.(3430-3432)ggC>ggT	p.G1144G	ADCY8_uc010mds.3_Silent_p.G1013G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1144					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAAGGCAAAGCCCTGGTCCT	0.517000										HNSCC(32;0.087)				80			42		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349017	100349017	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:100349017C>T	uc003huv.2	-	4	754	c.513G>A	c.(511-513)aaG>aaA	p.K171K	ADH7_uc021xqj.1_Silent_p.K179K	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	171					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CATCATCAATCTTAGCAACAG	0.463000														59			17		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:55024414C>T	uc002lgn.3	+	2	930	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	191					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.F191F(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTGCAATTTCGCCCCTACGG	0.403000														39			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10412891	10412891	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10412891C>T	uc002gmo.3	-	14	1592	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	500	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TCCTCCTGCTCCAGCACGAAC	0.483000														65			34		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885114	2885114	+	Missense_Mutation	SNP	G	A	A	rs147386217		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:2885114G>A	uc002kln.3	+	2	569	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	137					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCTCGGCCTCGAAACAGCTTG	0.512000														54			22		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542946	133542946	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:133542946C>T	uc002ttp.3	-	13	1812	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	480							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAAGGGTCATCGTCCGCATCA	0.517000														40			61		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22294115	22294115	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22294115C>T	uc001wbw.2	+	1	228	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		TCATGACTTTCAGTGAGAACA	0.468000														58			29		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329169	51329169	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:51329169G>A	uc002ptl.3	-	4	685	c.654C>T	c.(652-654)atC>atT	p.I218I	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Silent_p.I133I|KLK15_uc002ptn.3_3'UTR|KLK15_uc002pto.3_Silent_p.I217I|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_3'UTR|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I218N(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTGCAGGATGCCCCCAC	0.557000														30			8		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493404	20493404	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:20493404C>T	uc003gpr.1	+	8	1000	c.796C>T	c.(796-798)Cct>Tct	p.P266S	SLIT2_uc003gps.1_Missense_Mutation_p.P266S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	266	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTATGGCTCCTTCTTGTAG	0.408000														69			20		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369155	22369155	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:22369155C>T	uc010tzu.2	+	0	678	c.580C>T	c.(580-582)Cca>Tca	p.P194S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P194S(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAACACCTTCCCAGAGGAGTT	0.473000														174			36		0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73117299	73117299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73117299G>A	uc003tyx.3	-	7	610	c.554C>T	c.(553-555)tCc>tTc	p.S185F	WBSCR22_uc003tyw.1_Intron|STX1A_uc003tyy.3_Missense_Mutation_p.S185F|STX1A_uc010lbj.2_Missense_Mutation_p.S185F	NM_004603	NP_004594	Q16623	STX1A_HUMAN	Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA.	185					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGAGATGCTGGAGTCCATGAT	0.622000														19			11		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166162	79166162	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79166162C>T	uc002jzp.1	-	20	2787	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	AZI1_uc002jzm.1_Missense_Mutation_p.E290K|AZI1_uc002jzn.1_Missense_Mutation_p.E860K|AZI1_uc002jzo.1_Missense_Mutation_p.E824K|AZI1_uc010wum.1_Missense_Mutation_p.E827K|AZI1_uc002jzq.3_Missense_Mutation_p.E11K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	863					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCTCCAGCTCCAGCTGCTGC	0.716000														16			5		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239835	96239835	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:96239835C>T	uc001vmk.3	-	19	3028	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	DZIP1_uc001vmj.3_Missense_Mutation_p.G202R|DZIP1_uc001vml.3_Missense_Mutation_p.G707R	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	726					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATTTCGCTTCCCTCGGTCCCG	0.557000														52			35		0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620288	62620288	+	RNA	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62620288T>A	uc001nvr.3	-	8		c.674A>T			SNHG1_uc001nvs.3_Non-coding_Transcript|SNHG1_uc001nvt.3_Non-coding_Transcript|SNHG1_uc001nvu.3_Non-coding_Transcript					Homo sapiens small nucleolar RNA host gene 1 (non-protein coding) (SNHG1), non-coding RNA.																		CCTACCATTTTTTATACACCT	0.299000														18			9		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786495	5786495	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5786495G>A	uc002mdc.3	-	9	1642	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Silent_p.T273T	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	515					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCATGATCCCGGTGACACCAG	0.582000														21			7		0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126869366	126869366	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:126869366T>C	uc003kuk.3	+	5	989	c.809T>C	c.(808-810)gTt>gCt	p.V270A	PRRC1_uc003kuj.4_Missense_Mutation_p.V270A	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	270						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGTAAAAGTTGCTGCTGTC	0.413000														71			39		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300651	41300651	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:41300651C>T	uc001cgh.2	+	11	1708	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	KCNQ4_uc001cgi.2_Silent_p.F488F	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	542					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCTCAAGTTCCTGGTGGCCA	0.557000														59			19		0	0	1	0	0
ZNF66	0	broad.mit.edu	37	19	20959179	20959179	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:20959179G>A	uc002npe.3	+	0		c.70G>A								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		TAGAGGCCCAGCCTCTGTGGC	0.597000														35			16		0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44251629	44251629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44251629C>T	uc002oxj.2	-	4	896	c.553G>A	c.(553-555)Gat>Aat	p.D185N	SMG9_uc002oxk.2_Missense_Mutation_p.D185N|SMG9_uc010eiy.1_Missense_Mutation_p.D185N	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	185					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ATCTGGTCATCCACCAACTTG	0.567000														35			12		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457780	15457780	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15457780G>T	uc010bvf.1	-	7	789	c.789C>A	c.(787-789)ctC>ctA	p.L263L	NPIP_uc010uzu.2_Silent_p.L263L			Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	263	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											AAGGTGTCTTGAGGCTCAGGG	0.522000														96			11		0.0135373	0.013595	1	1	0
C14orf159	80017	broad.mit.edu	37	14	91642297	91642297	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:91642297G>A	uc001xyw.2	+	6	979	c.627G>A	c.(625-627)gaG>gaA	p.E209E	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Silent_p.E209E|C14orf159_uc001xyz.2_Silent_p.E80E|C14orf159_uc001xzb.2_Silent_p.E204E|C14orf159_uc001xyx.2_Silent_p.E192E|C14orf159_uc001xzc.2_Silent_p.E204E|C14orf159_uc001xza.2_Silent_p.E209E|C14orf159_uc001xyv.2_Silent_p.E209E|C14orf159_uc001xze.2_Silent_p.E204E	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	204						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAATCAAAGAGCTTTCCAAAC	0.502000														59			15		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618811	20618811	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:20618811C>T	uc003gpr.1	+	34	4330	c.4126C>T	c.(4126-4128)Ctt>Ttt	p.L1376F	SLIT2_uc003gps.1_Missense_Mutation_p.L1368F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1376					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGACCCTTGCCTTGGAAATAA	0.567000														46			21		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28210782	28210782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:28210782C>T	uc003xgq.3	-	4	815	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	ZNF395_uc003xgt.3_Missense_Mutation_p.G243R|ZNF395_uc003xgr.3_Missense_Mutation_p.G243R|ZNF395_uc003xgs.3_Missense_Mutation_p.G243R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	243					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAAGCATCCCCCAAATACTTG	0.597000														45			24		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124696789	124696789	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124696789G>A	uc011bke.2	-	16	4102	c.4034_splice	c.e16-1	p.P1345_splice	HEG1_uc003ehr.4_Splice_Site_p.P99_splice|HEG1_uc003ehs.4_Splice_Site_p.P1245_splice	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1245						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAAGCTGATAGGCTAAACGTA	0.488000														7			5		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663366	24663366	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:24663366G>A	uc003swx.3	+	2	379	c.80G>A	c.(79-81)gGa>gAa	p.G27E	MPP6_uc003swy.3_Missense_Mutation_p.G27E	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	27	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCTCAAGGGAATTATGGAG	0.348000														36			8		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41245309	41245309	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:41245309C>T	uc002oot.3	+	6	1929	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	632						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGGCCTGGCCAAGGTCTGGA	0.657000														29			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556245	11556245	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11556245G>A	uc002gne.3	+	13	2589	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	DNAH9_uc010coo.3_Missense_Mutation_p.D135N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	841	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCTCTGGATGATCGGCATGA	0.413000														27			15		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486107	118486107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118486107C>T	uc010oxe.1	+	10	1252	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	396						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCACTGAATCCATCCTTGCC	0.468000														45			18		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869564	36869564	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:36869564G>A	uc002xhy.1	-	2	1241	c.969C>T	c.(967-969)ctC>ctT	p.L323L	KIAA1755_uc002xhz.1_Silent_p.L323L	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	323										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGCCTCTGAGAGAGGCAGTA	0.507000														142			116		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26558050	26558050	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:26558050G>A	uc001isp.2	+	8	1426	c.923G>A	c.(922-924)gGg>gAg	p.G308E	GAD2_uc001isq.2_Missense_Mutation_p.G308E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCTTCCAGAGGGAAAATGATT	0.403000														29			5		0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31698746	31698746	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31698746G>A	uc003nwr.3	-	5	863	c.599C>T	c.(598-600)cCc>cTc	p.P200L	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	200	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAGGCCTCGGGGATGGTGAA	0.572000														279			184		0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23701189	23701189	+	Silent	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:23701189C>A	uc002dlz.1	+	9	1670	c.1617C>A	c.(1615-1617)acC>acA	p.T539T		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	539	Important for interaction with phosphorylated proteins (By similarity).|POLO box 2.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGGATCACACCAAGCTCATCT	0.562000														38			21		7.41877e-09	7.51046e-09	1	1	0
FAT3	120114	broad.mit.edu	37	11	92624224	92624224	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:92624224G>A	uc001pdj.4	+	24	13636	c.13619G>A	c.(13618-13620)aGc>aAc	p.S4540N	FAT3_uc001pdi.4_Missense_Mutation_p.S1012N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4572					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)				GGAGAGCTCAGCCTCGCCAGC	0.517000										TCGA Ovarian(4;0.039)				340			110		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559230	56559231	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56559230_56559231GG>AA	uc001skb.3	-	25	3116_3117	c.3010_3011CC>TT	c.(3010-3012)cca>TTa	p.P1004L	SMARCC2_uc001skd.3_Missense_Mutation_p.P1035L|SMARCC2_uc001ska.3_Missense_Mutation_p.P1035L|SMARCC2_uc001skc.3_Missense_Mutation_p.P1034L|SMARCC2_uc010sqf.2_Missense_Mutation_p.P924L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1004	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CAAACTTCCTGGAGGGGCCCCA	0.668000														32			14		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882111	156882111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156882111C>T	uc001fqj.1	+	15	2140	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	PEAR1_uc001fqk.1_Missense_Mutation_p.P300L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	675	EGF-like 9.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCTGCCATCCCCAGGATGGG	0.597000														26			11		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639965	207639965	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:207639965T>C	uc001hfw.3	+	1	272	c.153T>C	c.(151-153)tgT>tgC	p.C51C	CR2_uc001hfv.3_Silent_p.C51C|CR2_uc009xch.3_Silent_p.C51C	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	51	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACAGTTGTTCAGGTACCT	0.423000														89			39		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111080842	111080842	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:111080842G>A	uc001vqx.3	+	6	678	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	130					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)			GGGCCCAGGGGAAGGCCGGGC	0.622000														58			24		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119346	21119346	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:21119346T>A	uc002kum.4	-	18	3158	c.2884A>T	c.(2884-2886)Atc>Ttc	p.I962F	NPC1_uc010xaz.2_Missense_Mutation_p.I695F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	962			NITDQF -> S (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGTCAGTGATATTGTCCACT	0.433000														22			7		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8675472	8675472	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:8675472C>T	uc011atg.2	-	3	259	c.219G>A	c.(217-219)gcG>gcA	p.A73A	C3orf32_uc003bqz.3_Silent_p.A51A|C3orf32_uc003bqt.3_5'UTR|C3orf32_uc003bqu.3_Silent_p.A51A|C3orf32_uc003bqv.3_5'UTR|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.A51A	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	51										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						CCTCCGTCATCGCAGGGACTC	0.647000														33			18		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741395	145741395	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:145741395G>A	uc003zdj.3	-	4	1150	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	370					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCCTGCTACGGAGTGCCCGG	0.637000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					16			7		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64691225	64691225	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:64691225A>G	uc001xgl.3	+	113	20659	c.20429A>G	c.(20428-20430)gAc>gGc	p.D6810G	SYNE2_uc001xgm.3_Missense_Mutation_p.D6787G|SYNE2_uc010apy.3_Missense_Mutation_p.D3172G|SYNE2_uc001xgn.3_Missense_Mutation_p.D1749G|SYNE2_uc021rui.1_Missense_Mutation_p.D1748G|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.D757G|SYNE2_uc001xgq.3_Missense_Mutation_p.D1166G|SYNE2_uc001xgr.3_Missense_Mutation_p.D570G|SYNE2_uc010tsi.2_Missense_Mutation_p.D444G|SYNE2_uc001xgs.3_Missense_Mutation_p.D458G|SYNE2_uc001xgt.3_Missense_Mutation_p.D332G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6787					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTCGGGGGACCAGCCTCCT	0.507000														62			27		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211629	124211629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124211629C>T	uc003ehg.3	+	31	4853	c.4726C>T	c.(4726-4728)Cga>Tga	p.R1576*	KALRN_uc010hrv.1_Nonsense_Mutation_p.R1567*|KALRN_uc003ehf.1_Nonsense_Mutation_p.R1576*|KALRN_uc011bjy.1_Nonsense_Mutation_p.R1567*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1576	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGAACATTCGAGAAGTGAT	0.463000														65			30		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36030881	36030881	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:36030881C>T	uc001bza.3	+	7	1934	c.1807C>T	c.(1807-1809)Cta>Tta	p.L603L	NCDN_uc001bzb.3_Silent_p.L603L|NCDN_uc001bzc.3_Silent_p.L586L	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	603					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCCTCTTCCTATCACAGTC	0.632000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			33		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142190941	142190941	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142190941C>T	uc003yvy.3	+	16	2970	c.2692C>T	c.(2692-2694)Ctc>Ttc	p.L898F	DENND3_uc010mep.3_Missense_Mutation_p.L859F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	898										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACGTGCTGCTCTACACTCC	0.582000														54			17		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620525	7620525	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:7620525C>T	uc003bqm.2	+	7	2206	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F644F|GRM7_uc003bql.2_Silent_p.F644F|GRM7_uc003bqn.1_Silent_p.F227F|GRM7_uc010hch.1_Silent_p.F155F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	644					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCATCACTTTCCTGATGATTG	0.488000														82			31		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652992	1652992	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:1652992C>T	uc002qxa.3	-	16	2624	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	854					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGGGGGGTCGTTGCTGCAC	0.672000														19			4		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215590	8215590	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:8215590C>T	uc002glc.3	+	1	388	c.233C>T	c.(232-234)cCc>cTc	p.P78L	ARHGEF15_uc002glb.2_Missense_Mutation_p.P78L|ARHGEF15_uc002gld.3_Missense_Mutation_p.P78L|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P78L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	78	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTTTTGCCCCCCTCAGCTTCT	0.622000														48			34		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169641872	169641872	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:169641872C>T	uc003qwt.3	-	5	1124	c.876G>A	c.(874-876)gaG>gaA	p.E292E		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	292					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.E292E(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTTGAGGTTCTCGCTGAGCT	0.647000														66			18		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147465992	147465992	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:147465992G>A	uc003lox.2	+	4	380	c.307G>A	c.(307-309)Gga>Aga	p.G103R	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.G75R|SPINK5_uc010jgr.2_Missense_Mutation_p.G84R|SPINK5_uc003low.2_Missense_Mutation_p.G103R|SPINK5_uc003loy.2_Missense_Mutation_p.G103R	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	103	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTAAAAAAGGAGAAAGAGA	0.343000														34			24		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424912	6424912	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6424912G>A	uc001mdb.1	-	2	962	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	288					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652000														49			23		0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26621093	26621093	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:26621093G>A	uc001uqm.1	-	1	531	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	149					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCTCTGCTGGGGATCCTGCTT	0.627000														41			9		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692116	18692116	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:18692116G>A	uc001bau.2	+	5	1323	c.940G>A	c.(940-942)Gac>Aac	p.D314N	IGSF21_uc001bav.2_Missense_Mutation_p.D135N	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	314						extracellular region		p.D314E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCCACAGATCGACAACGAGGC	0.642000														59			21		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6589013	6589013	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:6589013C>T	uc003mwy.1	+	0	80	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	16					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TCTGATTTTTCCCAGCTGCAG	0.552000														96			27		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990687	134990687	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:134990687G>A	uc004ezh.3	+	11	1519	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SAGE1_uc010nry.1_Missense_Mutation_p.R420Q|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	451								p.R451Q(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGGCCAACGAAAACAGGAT	0.428000														19			38		0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28343697	28343697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:28343697G>A	uc001bpi.2	-	7	735	c.553C>T	c.(553-555)Cca>Tca	p.P185S	EYA3_uc010ofs.2_Missense_Mutation_p.P132S|EYA3_uc010oft.2_Missense_Mutation_p.P139S|EYA3_uc001bpj.3_Missense_Mutation_p.P139S|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	185					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGCTGCTGGAATATTGGCA	0.398000														76			36		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48735529	48735529	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:48735529G>A	uc002isl.3	+	4	653	c.573G>A	c.(571-573)agG>agA	p.R191R	ABCC3_uc002isk.4_Silent_p.R191R	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	191					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCTTCAGGGAGAAACCTC	0.567000														72			78		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42304977	42304977	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:42304977C>T	uc021wwk.1	-	1	273	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CCK_uc003cld.1_Missense_Mutation_p.R49K|CCK_uc011azk.1_Missense_Mutation_p.R49K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	49					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GCCATCCGTTCTCTGCGATAC	0.687000														70			25		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8375972	8375972	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:8375972T>C	uc003zkk.3	-	38	5368	c.4625A>G	c.(4624-4626)aAc>aGc	p.N1542S	PTPRD_uc003zkp.3_Missense_Mutation_p.N1136S|PTPRD_uc003zkq.3_Missense_Mutation_p.N1135S|PTPRD_uc003zkr.3_Missense_Mutation_p.N1126S|PTPRD_uc003zks.3_Missense_Mutation_p.N1135S|PTPRD_uc022bdj.1_Missense_Mutation_p.N1132S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1542	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.C1541C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCGGGAGGGTTACAGGTTTT	0.468000										TSP Lung(15;0.13)				43			23		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154047	41154047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41154047G>A	uc003jmk.2	-	14	2365	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	C6_uc003jml.1_Nonsense_Mutation_p.Q719*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	719	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TACAATCTCTGAAATGGTGTA	0.458000														31			16		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226162	2226162	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:2226162C>T	uc002cow.3	+	18	1958	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	620					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTCAGTGCATCCTACGACCGG	0.682000														25			8		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128623306	128623306	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:128623306A>G	uc003ela.4	+	10	1309	c.1107A>G	c.(1105-1107)caA>caG	p.Q369Q	ACAD9_uc010hsw.1_Silent_p.Q246Q|ACAD9_uc011bks.2_Silent_p.Q246Q|ACAD9_uc003elb.3_Silent_p.Q246Q|ACAD9_uc003ele.3_Silent_p.Q21Q	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	369						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTGGACCAACCTGGCTTTC	0.542000														27			8		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640045	49640045	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:49640045C>T	uc002pmr.3	+	14	2062	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.S501F|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.S445F	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	577						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGACGGCTCCGATGAGGAG	0.647000														9			3		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213342	21213342	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21213342G>A	uc010bwn.1	-	11	1489	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	ZP2_uc002dii.2_Silent_p.F430F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	430	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TATCATCTTCGAACTTAAATG	0.403000														47			24		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511831	36511831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:36511831G>A	uc001mwq.2	-	7	1507	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	TRAF6_uc001mws.2_Missense_Mutation_p.H376Y	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	376	MATH.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CCAGGGCTATGAATCACAACA	0.443000														61			19		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567182	136567182	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:136567182G>A	uc002tuu.1	-	7	2746	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	912	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCGGAAGAGGACACGCCCCA	0.517000														34			51		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487660	56487661	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56487660_56487661CC>TT	uc001sjh.3	+	12	1869_1870	c.1593_1594CC>TT	c.(1591-1596)acccac>acTTac	p.H532Y	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.H473Y|ERBB3_uc009zok.3_5'UTR|ERBB3_uc001sjk.3_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.H100Y	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	532					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTGTGTGACCCACTGCAACTT	0.559000														74			37		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648930	169648930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:169648930G>A	uc003qwt.3	-	3	439	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	64	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTTCACCGGTGGGATGTAGTC	0.607000														42			20		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36994276	36994276	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:36994276G>A	uc002rpl.3	+	6	829	c.527G>A	c.(526-528)gGg>gAg	p.G176E	VIT_uc010ynf.2_Intron|VIT_uc002rpm.3_Missense_Mutation_p.G176E|VIT_uc010ezv.3_Missense_Mutation_p.G176E|VIT_uc010ezw.3_Missense_Mutation_p.G176E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	176						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTATTCCAGGGACAACTGCA	0.507000														24			12		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224085	248224085	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248224085C>T	uc001idx.1	+	0	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCATTTTCCTAATGGCTC	0.388000														196			68		0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791477	151791477	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151791477C>T	uc010lqg.1	+	1	395	c.165C>T	c.(163-165)ttC>ttT	p.F55F	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.F55F|GALNT11_uc003wkv.1_Silent_p.F55F|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	55						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAAAAAAATTCTATCCCCGTT	0.463000														65			39		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175381	168175381	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168175381C>T	uc010jjg.3	-	19	2616	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	SLIT3_uc003mab.3_Missense_Mutation_p.M732I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	732	LRRNT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGTCTCCATACAGGTGC	0.637000														58			27		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625158	154625158	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:154625158C>T	uc003inq.3	+	2	1318	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	TLR2_uc003inr.3_Missense_Mutation_p.L367F|TLR2_uc003ins.3_Missense_Mutation_p.L367F|TLR2_uc021xtl.1_Missense_Mutation_p.L367F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	367					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATACTTGGATCTCAGTGAAAA	0.328000														27			5		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102994868	102994868	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:102994868G>A	uc003hvy.4	+	15	2600	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	BANK1_uc003hvx.4_Missense_Mutation_p.E761K|BANK1_uc010ill.3_Missense_Mutation_p.E643K|BANK1_uc003hvz.4_Missense_Mutation_p.E746K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	776					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTTGAAAAGGAATTTGGTTT	0.328000														55			13		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225612	9225612	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9225612C>T	uc021uoi.1	-	0	828	c.828G>A	c.(826-828)gtG>gtA	p.V276V	OR7G1_uc002mks.1_Silent_p.V276V	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAGTGTACATCACTGAAGCCA	0.443000														49			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61965609	61965609	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:61965609G>A	uc001jky.3	-	10	1572	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ANK3_uc010qih.2_Nonsense_Mutation_p.R395*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R406*|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Nonsense_Mutation_p.R73*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	412					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTTTAATTCGATTCTTCTTG	0.423000														26			10		0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183707222	183707222	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:183707222C>T	uc002upa.2	-	2	794	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	192	NTR.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGTAATTGTTCCGGAAATAGG	0.353000														55			14		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135756	55135756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55135756C>T	uc010rif.2	+	0	397	c.397C>T	c.(397-399)Cat>Tat	p.H133Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTTATGGATCATTTATTTGC	0.408000														109			44		0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624724	11624724	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11624724G>A	uc002msb.3	-	2	543	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	ECSIT_uc010dyc.2_Missense_Mutation_p.P137S|ECSIT_uc010dyd.3_Missense_Mutation_p.P137S|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACCTCCTTGGGGAAGATGTTG	0.592000														33			12		0	0	1	0	0
F8A3	474384	broad.mit.edu	37	X	154115738	154115738	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:154115738C>T	uc004fmv.3	+	0	1104	c.1089C>T	c.(1087-1089)acC>acT	p.T363T	F8_uc004fmt.3_Intron|F8_uc004fms.3_5'Flank|MIR1184-1_uc022cil.1_5'Flank	NM_001007524	NP_036283	P23610	F8I2_HUMAN	Homo sapiens coagulation factor VIII-associated 3 (F8A3), mRNA.	363						nucleus	binding					all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAAGAAACCATCTCCCCCT	0.527000														171			45		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559941	140559941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140559941C>T	uc011dai.2	+	0	2571	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	776					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTAATATTCAGGGCCATTC	0.428000														62			19		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566502	55566502	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:55566502G>A	uc010qhq.2	-	34	5275	c.4880C>T	c.(4879-4881)cCa>cTa	p.P1627L	PCDH15_uc010qhr.2_Missense_Mutation_p.P1622L	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCCTTAGTGGCTTCACCGC	0.448000										HNSCC(58;0.16)				158			64		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003922	93003922	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:93003922C>T	uc022axs.1	-	6	1300	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	RUNX1T1_uc003yfc.2_Silent_p.R285R|RUNX1T1_uc010mam.3_Silent_p.R285R|RUNX1T1_uc003yfe.2_Silent_p.R275R|RUNX1T1_uc003yfd.3_Silent_p.R312R|RUNX1T1_uc022axo.1_Silent_p.R312R|RUNX1T1_uc010mao.3_Silent_p.R285R|RUNX1T1_uc011lgi.2_Silent_p.R323R|RUNX1T1_uc022axp.1_Silent_p.R312R|RUNX1T1_uc022axq.1_Silent_p.R312R|RUNX1T1_uc022axr.1_Silent_p.R312R|RUNX1T1_uc022axt.1_Silent_p.R312R|RUNX1T1_uc022axu.1_Silent_p.R292R|RUNX1T1_uc022axv.1_Silent_p.R312R|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Silent_p.R275R	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	312	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S371I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAGGAGTCCCTGTAGTGGT	0.547000														99			38		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887382	9887382	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:9887382C>T	uc002koi.4	+	1	1355	c.906C>T	c.(904-906)tcC>tcT	p.S302S	TXNDC2_uc002koh.4_Silent_p.S235S|TXNDC2_uc021ugx.1_Silent_p.S235S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	302	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCCCAAGTCCCTAGAGGAAG	0.602000														59			20		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428497	57428497	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:57428497C>T	uc002xzw.3	+	0	462	c.177C>T	c.(175-177)atC>atT	p.I59I	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGAGCCCATCCCCGTCGAGA	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				11			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751458	140751458	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140751458G>A	uc003ljw.2	+	0	1497	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.R499R|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCGGGAGCTGTCGT	0.652000														55			27		0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999827	59999827	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:59999827G>A	uc003dkx.4	-	5	526	c.155C>T	c.(154-156)cCt>cTt	p.P52L	FHIT_uc003dky.3_Missense_Mutation_p.P52L|FHIT_uc010hnn.1_Missense_Mutation_p.P52L	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	52	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.R51H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CACTTCATCAGGACGCAGGTC	0.547000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					51			10		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303687	151303687	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303687C>T	uc022cgz.1	-	0	406	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E136K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E136K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E136K	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	136	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCACCTTTTCATCTATCTCA	0.453000														28			52		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997540	31997540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31997540C>T	uc011dpd.2	+	28	3925	c.3874C>T	c.(3874-3876)Cag>Tag	p.Q1292*	C4B_uc011dpe.2_Nonsense_Mutation_p.Q1292*	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1292					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTCACCCGTCAGGGCAGCTT	0.647000														127			31		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330650	125330650	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125330650T>C	uc004bmp.1	-	0	107	c.107A>G	c.(106-108)tAc>tGc	p.Y36C		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V35M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGTGACCAGGTACACGATGAG	0.502000														60			23		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572730	169572730	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:169572730C>T	uc003fgc.1	-	5	927	c.862G>A	c.(862-864)Gat>Aat	p.D288N	LRRC31_uc010hwp.1_Missense_Mutation_p.D232N	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	288										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAGGAAAGATCTAATTTCCTC	0.458000														44			20		0	0	1	0	0
CYB561	1534	broad.mit.edu	37	17	61511954	61511954	+	Splice_Site	SNP	C	T	T	rs77535447		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:61511954C>T	uc002jaq.3	-	6	725	c.702_splice	c.e6-1	p.G234_splice	CYB561_uc002jap.3_Splice_Site_p.G188_splice|CYB561_uc002jar.3_Splice_Site_p.G188_splice|CYB561_uc002jas.3_Splice_Site_p.G188_splice|CYB561_uc010ddt.3_Splice_Site|CYB561_uc002jat.3_Splice_Site_p.G188_splice|CYB561_uc010wpf.2_Splice_Site_p.G136_splice|CYB561_uc010wpg.2_Splice_Site_p.G159_splice	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	188					electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CTATACTTGCCCCTGCAGGGG	0.607000														29			5		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702456	88702456	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:88702456G>A	uc001kea.3	-	5	2212	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	MMRN2_uc010qmn.2_Silent_p.A338A|MMRN2_uc009xtb.2_Silent_p.A652A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	695						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCGCCAGCCCGGCCAGGGCGG	0.771000														10			4		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099233	1099233	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:1099233G>A	uc001lsx.1	+	39	7227	c.7200G>A	c.(7198-7200)agG>agA	p.R2400R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4766						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTCACAGGGAGTACCAGG	0.627000														53			11		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29552206	29552206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29552206C>T	uc002hgg.3	+	16	2322	c.1939C>T	c.(1939-1941)Cat>Tat	p.H647Y	NF1_uc002hgh.3_Missense_Mutation_p.H647Y|NF1_uc010csn.2_Missense_Mutation_p.H507Y|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	647					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCCATGGATCATGAAGAATT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				93			32		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510900	119510900	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:119510900C>T	uc003pym.1	-	9	1917	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	492					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E491K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTGGGCCATGCCTTCGGGAGC	0.532000														46			23		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936891	15936891	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:15936891G>C	uc003jfn.1	+	3	1553	c.1072G>C	c.(1072-1074)Gcg>Ccg	p.A358P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	358					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.I357I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGAGCATCGCGCACTGCGG	0.667000														12			9		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653205	159653205	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159653205T>A	uc010kjv.3	+	10	1861	c.1661T>A	c.(1660-1662)aTg>aAg	p.M554K	FNDC1_uc010kjw.1_Missense_Mutation_p.M439K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	554						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACTCGCCCATGTCACCCTCA	0.632000														17			8		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207437870	207437870	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:207437870C>T	uc002vbq.3	+	17	1911	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	563	Disintegrin.|May bind the integrin receptor.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCCGGGATGCTGTGAACGAG	0.363000														54			67		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235039	21235039	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21235039C>T	uc002red.3	-	25	4829	c.4701G>A	c.(4699-4701)gaG>gaA	p.E1567E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1567					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAAAGTCAGCTCGTAGTTCT	0.423000														359			125		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483456	219483457	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:219483456_219483457CC>TT	uc021vwx.1	+	3	675_676	c.336_337CC>TT	c.(334-339)gcccag>gcTTag	p.Q113*	PLCD4_uc021vww.1_Non-coding_Transcript|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	113	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTGAGGAGGCCCAGATATGGAT	0.614000														4			13		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070196	141070196	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:141070196C>T	uc010ncq.3	+	3	1276	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GGTGCGGCTCCTTAGCCAGGG	0.642000														10			4		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060965	44060965	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:44060965C>T	uc002ijr.4	+	5	1117	c.795C>T	c.(793-795)atC>atT	p.I265I	MAPT_uc010dau.3_Silent_p.I265I|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.I113I	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	265					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGGTGCCATCCCCCTCCCTG	0.677000														25			16		0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89008048	89008048	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:89008048G>A	uc002bmj.2	-	2	500	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	MRPL46_uc002bmi.1_Silent_p.L37L|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	159						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CTGACTAACAGGACAAGGTTC	0.517000														67			40		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45267366	45267366	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:45267366C>T	uc001cmn.3	+	3	608	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	170	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCGGCAGATCCTTTCTGGCCT	0.632000														67			24		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067360	190067360	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:190067360C>T	uc001gse.1	-	7	2321	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	FAM5C_uc010pot.1_Missense_Mutation_p.D595N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	697						extracellular region		p.Q696L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTGCTGAATCCTGGGATCCC	0.468000														59			27		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959299	120959300	+	Missense_Mutation	DNP	AG	CT	CT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:120959299_120959300AG>CT	uc003eec.4	+	13	1485_1486	c.1345_1346AG>CT	c.(1345-1347)agt>CTt	p.S449L	STXBP5L_uc011bji.2_Missense_Mutation_p.S449L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	449					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTGGCCAATCAGTGGAGGAGCT	0.302000														23			9		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953722	130953722	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:130953722C>T	uc002tqv.3	-	2	327	c.226_splice	c.e2+1	p.D76_splice		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	76					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AGGCACCTACCGACCACAGTG	0.592000														6			19		0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2901061	2901061	+	Missense_Mutation	SNP	C	T	T	rs145933934	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:2901061C>T	uc003gfq.3	+	8	1248	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	ADD1_uc010ico.1_Missense_Mutation_p.R354C|ADD1_uc003gfo.3_Missense_Mutation_p.R354C|ADD1_uc003gfp.3_Missense_Mutation_p.R354C|ADD1_uc003gfr.3_Missense_Mutation_p.R354C|ADD1_uc003gfs.3_Missense_Mutation_p.R354C|ADD1_uc003gft.3_Missense_Mutation_p.R354C|ADD1_uc003gfu.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	354					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCAAGTCCCGTTCCCCAGG	0.537000														45			9		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516172	51516172	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:51516172G>A	uc010ric.2	+	0	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348000														39			9		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:84476138C>T	uc010chj.3	+	14	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_uc002fhx.3_Missense_Mutation_p.A445V|ATP2C2_uc002fhy.3_Missense_Mutation_p.A462V|ATP2C2_uc002fhz.3_Missense_Mutation_p.A294V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552000														86			58		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48049680	48049680	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:48049680C>T	uc004diz.1	-	6	531	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	SSX5_uc004dja.1_Missense_Mutation_p.E119K	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCATTTCCTTCCTCTGCTGGC	0.443000														40			50		0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155159801	155159802	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:155159801_155159802GG>AA	uc021pap.1	-	7	1351_1352	c.1279_1280CC>TT	c.(1279-1281)cca>TTa	p.P427L	MUC1_uc001fhz.3_Missense_Mutation_p.P123L|MUC1_uc001fhy.3_Missense_Mutation_p.P123L|MUC1_uc010pfb.2_Missense_Mutation_p.P123L|MUC1_uc010pfh.2_Missense_Mutation_p.P269L|MUC1_uc010pff.2_Missense_Mutation_p.P201L|MUC1_uc010pfi.2_Missense_Mutation_p.P269L|MUC1_uc010pfj.2_Missense_Mutation_p.P293L|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Missense_Mutation_p.P123L|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Missense_Mutation_p.P123L|MUC1_uc010pfg.2_Non-coding_Transcript|MUC1_uc010pfd.2_Missense_Mutation_p.P145L|MUC1_uc009wpy.3_Non-coding_Transcript|MUC1_uc009wpu.3_Non-coding_Transcript|MUC1_uc010pfm.2_Missense_Mutation_p.P123L|MUC1_uc001fiq.3_Missense_Mutation_p.P123L|MUC1_uc009wqa.3_Missense_Mutation_p.P281L|MUC1_uc010pfn.2_Missense_Mutation_p.S157F|MUC1_uc009wpn.3_Missense_Mutation_p.S196F|MUC1_uc010pfo.2_Missense_Mutation_p.P145L|MUC1_uc009wpw.3_Missense_Mutation_p.P120L|MUC1_uc001fim.3_Missense_Mutation_p.P93L|MUC1_uc001fil.3_Missense_Mutation_p.S135F|MUC1_uc010pfp.2_Missense_Mutation_p.P145L|MUC1_uc001fij.3_Missense_Mutation_p.P207L|MUC1_uc009wqc.3_Missense_Mutation_p.P195L|MUC1_uc009wqd.3_Missense_Mutation_p.P219L|MUC1_uc001fia.3_Missense_Mutation_p.P198L|MUC1_uc009wqb.3_Missense_Mutation_p.P123L|MUC1_uc009wpx.3_Missense_Mutation_p.P182L|MUC1_uc010pfq.2_Missense_Mutation_p.P195L|MUC1_uc001fid.3_Missense_Mutation_p.P173L|MUC1_uc001fit.3_Missense_Mutation_p.P123L|MUC1_uc009wpz.3_Missense_Mutation_p.P225L|MUC1_uc001fii.3_Non-coding_Transcript|MUC1_uc001fik.3_Missense_Mutation_p.P216L|MUC1_uc009wpo.3_Missense_Mutation_p.P160L|MUC1_uc010pfr.2_Missense_Mutation_p.P155L|MUC1_uc001fih.3_Non-coding_Transcript|MUC1_uc001fio.3_Missense_Mutation_p.P146L|MUC1_uc009wqe.3_Missense_Mutation_p.P102L|MUC1_uc009wpl.3_Missense_Mutation_p.P132L|MUC1_uc009wpp.3_Missense_Mutation_p.S105F|MUC1_uc009wpm.3_Missense_Mutation_p.S175F|MUC1_uc009wpk.3_Missense_Mutation_p.P145L|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Missense_Mutation_p.S116F|MUC1_uc021paq.1_Missense_Mutation_p.P418L|MUC1_uc009wqg.3_Missense_Mutation_p.P154L|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Missense_Mutation_p.P172L|MUC1_uc009wps.3_Missense_Mutation_p.P181L|MUC1_uc001fie.3_Missense_Mutation_p.P111L|MUC1_uc009wpt.3_Missense_Mutation_p.P184L|MUC1_uc009wpq.3_Missense_Mutation_p.P186L|MUC1_uc009wpr.3_Missense_Mutation_p.P88L|MUC1_uc001fig.3_Missense_Mutation_p.P109L|MUC1_uc001fif.3_Missense_Mutation_p.P100L|MUC1_uc001fin.3_Missense_Mutation_p.P102L|MUC1_uc009wpj.3_Non-coding_Transcript|MUC1_uc009wpv.3_Missense_Mutation_p.P127L|MUC1_uc001fib.3_Missense_Mutation_p.P127L|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1198	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCCCGGGCTGGAAAGATGTCC	0.599000			T	IGH@	B-NHL									73			24		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267773	7267773	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:7267773G>A	uc002mgd.1	-	1	344	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	INSR_uc002mge.1_Missense_Mutation_p.P79S|INSR_uc002mgf.3_Missense_Mutation_p.P79S	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	79					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAGTTTGGGGAAACTGAGG	0.512000														346			164		0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601599	7601599	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7601599C>T	uc003mxr.3	+	4	496	c.437C>T	c.(436-438)cCt>cTt	p.P146L	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	146					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTTGAAGTTCCTTTGAATCAC	0.323000														59			19		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211135	249211135	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:249211135C>T	uc001ifh.3	+	2	499	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.R115C|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAGAGATATTCGTCCAGACTT	0.493000														39			11		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911342	88911342	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:88911342C>T	uc001kei.4	+	2	345	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	77										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTGGTCATTTCTTAGCAAACT	0.343000														29			13		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811678	32811678	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:32811678C>T	uc001utx.3	+	43	6469	c.5973C>T	c.(5971-5973)atC>atT	p.I1991I	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGGTGTCATCGACCGATCCT	0.542000														20			10		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602559	64602559	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64602559C>T	uc001obs.4	-	16	2020	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	674					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CAGTTGCTCTCCGTCTCCCGC	0.701000														24			10		0	0	1	0	0
TMEM231	79583	broad.mit.edu	37	16	75573925	75573925	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:75573925G>A	uc002fek.3	-	5	1044	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	CHST5_uc002fej.1_Intron|TMEM231_uc002fel.3_Silent_p.P190P|TMEM231_uc002fem.3_Silent_p.P306P	NM_001077416	NP_001070887	Q9H6L2	TM231_HUMAN	Homo sapiens transmembrane protein 231 (TMEM231), transcript variant 1, mRNA.	306						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGTCTCCCCGGGGCGTCACTG	0.488000														11			7		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	348073	348073	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:348073A>C	uc002cgp.2	-	5	1822	c.1433T>G	c.(1432-1434)gTg>gGg	p.V478G	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.V478G	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	478	Interaction with CTNNB1 (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGTCCTCAGCACACGCTGTAC	0.692000											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		8			3		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559418	84559419	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84559418_84559419GA>AG	uc004eer.2	-	13	1642_1643	c.1496_1497TC>CT	c.(1495-1497)ttc>tCT	p.F499S	POF1B_uc004ees.3_Missense_Mutation_p.F499S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	499							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCTTAAATTGGAAGTCACTACA	0.356000														8			7		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109342872	109342872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109342872G>A	uc001dvy.3	+	16	1555	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	494					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AGATTCAAAAGAATGGCCATA	0.348000														40			16		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595421	93595421	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:93595421C>T	uc010urc.2	-	2	702	c.471G>A	c.(469-471)aaG>aaA	p.K157K	RGMA_uc002bsq.2_Silent_p.K133K|RGMA_uc021svs.1_Silent_p.K133K|RGMA_uc021svt.1_Silent_p.K133K|RGMA_uc010boi.2_Silent_p.K40K|RGMA_uc002bsr.2_Silent_p.K40K|RGMA_uc021svu.1_Silent_p.K133K|RGMA_uc002bss.2_Silent_p.K149K	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	149					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTGAAAGCTCTTCTCGTAAT	0.652000														24			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677635	100677635	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100677635G>A	uc003uxp.1	+	2	2991	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	980	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E980K(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACTCCTAGTGAAGGAACGAC	0.512000														193			88		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884805	39884805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:39884805G>A	uc001zkh.3	+	16	2748	c.2569G>A	c.(2569-2571)Gac>Aac	p.D857N	THBS1_uc010bbi.3_Missense_Mutation_p.D329N	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	857					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGATACCTGTGACAACAATCA	0.433000														21			6		0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024768	115024768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:115024768G>A	uc004bfv.3	-	4	748	c.565C>T	c.(565-567)Cga>Tga	p.R189*	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Nonsense_Mutation_p.R186*|PTBP3_uc004bfw.3_Nonsense_Mutation_p.R183*|PTBP3_uc011lwu.2_Nonsense_Mutation_p.R155*|PTBP3_uc004bfz.3_Nonsense_Mutation_p.R155*|PTBP3_uc004bfy.3_Nonsense_Mutation_p.R88*	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	183	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										ATAATTATTCGAAGCACAGGG	0.468000														43			14		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95903265	95903265	+	Silent	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:95903265C>G	uc001yei.4	-	13	2445	c.2430G>C	c.(2428-2430)ctG>ctC	p.L810L	C14orf49_uc010avi.3_Silent_p.L805L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	810					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CAAAGTTCCTCAGGAGCTGGG	0.502000														67			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240320	3240320	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:3240320C>T	uc004crg.4	-	4	3563	c.3406G>A	c.(3406-3408)Gtt>Att	p.V1136I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1136						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACGGAGCAACTTTTTGCCTT	0.512000														17			28		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117706953	117706953	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:117706953C>T	uc003pxp.1	-	14	2396	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	733					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATATCCGTCCCATTCAGCAGC	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									41			17		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588023	247588023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247588023G>A	uc001icr.3	+	4	1416	c.1278G>A	c.(1276-1278)atG>atA	p.M426I	NLRP3_uc001ics.3_Missense_Mutation_p.M426I|NLRP3_uc001icu.3_Missense_Mutation_p.M426I|NLRP3_uc001icw.3_Missense_Mutation_p.M426I|NLRP3_uc001icv.3_Missense_Mutation_p.M426I|NLRP3_uc010pyw.2_Missense_Mutation_p.M424I|NLRP3_uc001ict.1_Missense_Mutation_p.M424I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	426	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACAGCAGATGGAGAGTGGCA	0.587000														54			15		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247726896	247726896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247726896G>A	uc001idf.3	+	2	241	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	32										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTGTAGGCAGGAAATGACTAC	0.358000														14			3		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30257198	30257198	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30257198C>T	uc002kxm.1	-	7	2072	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	562						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CAGCCAGGGCCACTTCGACCC	0.473000														64			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38991298	38991298	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:38991298C>T	uc002oit.3	+	45	7506	c.7376C>T	c.(7375-7377)tCc>tTc	p.S2459F	RYR1_uc002oiu.3_Missense_Mutation_p.S2459F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2459	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATCCTCCGCTCCCTTGTGCCC	0.642000														30			5		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716414	164716414	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:164716414G>A	uc003fei.3	-	37	4517	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1485	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGATACGTGGAACGAGAAAT	0.393000										HNSCC(35;0.089)				50			16		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799163	5799163	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5799163C>T	uc010qzn.2	-	0	735	c.702G>A	c.(700-702)gcG>gcA	p.A234A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234A(2)|p.A234V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGGCTGATCGCTGCCTTGA	0.438000														41			23		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132081940	132081940	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:132081940C>T	uc010sci.2	+	3	756	c.425C>T	c.(424-426)tCt>tTt	p.S142F	NTM_uc001qgm.3_Missense_Mutation_p.S142F|NTM_uc010sch.2_Missense_Mutation_p.S133F|NTM_uc010scj.2_Missense_Mutation_p.S101F|NTM_uc001qgo.3_Missense_Mutation_p.S142F|NTM_uc001qgq.3_Missense_Mutation_p.S142F|NTM_uc001qgp.3_Missense_Mutation_p.S142F	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.S142F(3)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTAGAGATTTCTTCAGATATC	0.393000														42			10		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053431	1053431	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1053431C>T	uc002lqw.4	+	23	3555	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	ABCA7_uc010dsb.1_Silent_p.A970A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1108					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGGGTGCCCATGACGGCA	0.677000														10			6		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67942004	67942004	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:67942004G>A	uc004dxb.3	+	11	2788	c.2574_splice	c.e11+1	p.Q858_splice	STARD8_uc004dxa.3_Splice_Site_p.Q778_splice|STARD8_uc004dxc.4_Splice_Site_p.Q778_splice	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	778	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACTTTTCCAGGTGAGTAACCC	0.572000														5			10		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893196	42893196	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:42893196G>A	uc010zwl.2	+	4	881	c.814G>A	c.(814-816)Gag>Aag	p.E272K	GDAP1L1_uc002xlp.1_Missense_Mutation_p.E253K|GDAP1L1_uc002xlq.3_Missense_Mutation_p.E253K|GDAP1L1_uc010zwm.2_Missense_Mutation_p.E195K|GDAP1L1_uc010zwn.2_Missense_Mutation_p.E61K	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	253	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGGAGAACGAGGGTGGGTG	0.602000														28			27		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:42236589C>T	uc003ose.2	-	4	1303	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_uc011duq.1_Missense_Mutation_p.G247E|TRERF1_uc003osb.2_Missense_Mutation_p.G86E|TRERF1_uc003osc.2_Missense_Mutation_p.G86E|TRERF1_uc003osd.2_Missense_Mutation_p.G247E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000														75			11		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058352	152058352	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152058352C>T	uc001ezo.1	-	2	1871	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	602							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGTTTTTCTCACCAGGTG	0.537000														87			39		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133627	22133627	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22133627G>A	uc010tmd.2	+	0	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGCCTGTGCCGAGATCTTTCT	0.453000														134			55		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891001	44891001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44891001G>A	uc010xxa.2	-	3	1470	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S469F	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GTGAAGAACAGAGCTATACGC	0.413000														62			14		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750341	172750341	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:172750341C>T	uc003mco.1	-	2	1697	c.387G>A	c.(385-387)agG>agA	p.R129R	STC2_uc003mcn.1_Silent_p.R44R	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	129					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACACCATTTCCCTGATGGCCG	0.572000														16			14		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409623	159409623	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159409623C>T	uc010piv.2	+	0	112	c.75C>T	c.(73-75)ttC>ttT	p.F25F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	25					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ACTTTGTTTTCCAAGGTTTCT	0.398000														83			23		0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412947	22412947	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:22412947A>T	uc001bfq.3	+	4	486	c.194A>T	c.(193-195)gAc>gTc	p.D65V	CDC42_uc009vqg.1_Missense_Mutation_p.D65V|CDC42_uc001bfp.3_Missense_Mutation_p.D65V|CDC42_uc009vqh.3_Missense_Mutation_p.D24V|CDC42_uc001bfr.3_Missense_Mutation_p.D65V|CDC42_uc010odr.2_Missense_Mutation_p.D110V|CDC42_uc010ods.2_Missense_Mutation_p.D107V	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	65					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GAGGATTATGACAGATTACGA	0.378000														58			15		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707028	96707028	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:96707028C>T	uc010avm.1	+	2	559	c.363C>T	c.(361-363)ttC>ttT	p.F121F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F94F|BDKRB2_uc001yfg.2_Silent_p.F121F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	121					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.F121F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCAACAACTTCGACTGGCTCT	0.592000														126			50		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100171	66100171	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66100171G>A	uc001ohn.1	-	9	2055	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	RIN1_uc010roy.1_Missense_Mutation_p.T274I|RIN1_uc009yrd.1_Missense_Mutation_p.T336I|RIN1_uc010roz.1_Missense_Mutation_p.T538I|RIN1_uc010rpa.1_Missense_Mutation_p.T477I	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	643	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCCAGGGTCTTGGAGGT	0.592000														85			32		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155206484	155206484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:155206484C>T	uc021xge.1	-	18	2745	c.2468G>A	c.(2467-2469)gGa>gAa	p.G823E	PLCH1_uc021xgd.1_Missense_Mutation_p.G823E|PLCH1_uc021xgf.1_Missense_Mutation_p.G805E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	823	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCTTTGTCCAACAAAGTC	0.443000														22			13		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886893	52886893	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52886893C>T	uc001sam.3	-	0	289	c.80G>A	c.(79-81)gGg>gAg	p.G27E		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	27	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.G27W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGCTGACCCCAGGGAGCCT	0.657000														65			20		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392614	178392614	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178392614G>A	uc003mjo.2	+	4	1510	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R	ZNF454_uc010jkz.2_Silent_p.R403R|ZNF454_uc021yjc.1_Silent_p.R403R	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CACGACATCGGAAAATTCACA	0.428000														21			14		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477170	28477170	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:28477170C>T	uc009vte.3	-	2	698	c.363G>A	c.(361-363)cgG>cgA	p.R121R	PTAFR_uc021ojz.1_Silent_p.R121R|PTAFR_uc001bpl.3_Silent_p.R121R|PTAFR_uc001bpm.4_Silent_p.R121R|PTAFR_uc021oka.1_Silent_p.R121R	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	121					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGATGGGCCGAGTTACTG	0.557000														55			20		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730690	3730690	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:3730690G>A	uc010xhv.2	+	3	656	c.656G>A	c.(655-657)aGg>aAg	p.R219K	TJP3_uc010xhs.2_Missense_Mutation_p.R200K|TJP3_uc010xht.2_Missense_Mutation_p.R164K|TJP3_uc010xhu.2_Missense_Mutation_p.R209K|TJP3_uc010xhw.2_Missense_Mutation_p.R219K	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	200	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGAAGAGGAGAGACAGC	0.612000														38			13		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752106	62752106	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62752106G>A	uc001nwk.3	-	0	390	c.57C>T	c.(55-57)atC>atT	p.I19I	SLC22A6_uc001nwl.3_Silent_p.I19I|SLC22A6_uc001nwj.3_Silent_p.I19I|SLC22A6_uc001nwm.3_Silent_p.I19I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	19					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGTGACCTGGATCTGCTGGA	0.652000														15			8		0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132389843	132389843	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:132389843C>T	uc003epa.4	+	5	771	c.529C>T	c.(529-531)Cta>Tta	p.L177L	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Silent_p.L121L|UBA5_uc003epb.4_Silent_p.L121L	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	177					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTGTTGATCTAGTTCTTAG	0.333000														45			21		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168150008	168150008	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168150008C>T	uc010jjg.3	-	22	2760	c.2340_splice	c.e22-1	p.I780_splice	SLIT3_uc003mab.3_Splice_Site_p.I780_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	780					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCTCAGGTCACTAGGAAAA	0.463000														56			25		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981717	85981717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:85981717C>T	uc010qmc.2	-	3	1650	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	LRIT2_uc001kcy.3_Missense_Mutation_p.E538K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	538						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGTCCCCCTCAGTGTCTATG	0.572000														84			40		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666100	30666100	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30666100C>T	uc002dyy.3	+	7	1067	c.809C>T	c.(808-810)aCc>aTc	p.T270I	PRR14_uc002dyz.3_Missense_Mutation_p.T115I|PRR14_uc002dza.3_Missense_Mutation_p.T270I|PRR14_uc002dzb.1_Missense_Mutation_p.T84I	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	270	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCAACAAAACCCCACAGCCC	0.642000														16			6		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73555367	73555367	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:73555367C>T	uc002joh.3	+	5	560	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	LLGL2_uc002jog.1_Silent_p.L136L|LLGL2_uc010dgf.1_Silent_p.L136L|LLGL2_uc002joi.3_Silent_p.L136L|LLGL2_uc010dgg.2_Silent_p.L136L|LLGL2_uc002joj.3_Silent_p.L125L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	136					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACCGTGGTCCTGCCACATTC	0.637000														35			10		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368806	45368806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:45368806G>A	uc002ozw.1	+	1	757	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	PVRL2_uc002ozv.3_Missense_Mutation_p.A123T	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	123	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCTCCAGGACGCCACGCTGGC	0.662000														79			29		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277347	186277348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186277347_186277348GG>AA	uc001gru.4	+	6	2547_2548	c.2496_2497GG>AA	c.(2494-2499)aaggag>aaAAag	p.E833K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E792K|PRG4_uc009wyl.3_Missense_Mutation_p.E740K|PRG4_uc009wym.3_Missense_Mutation_p.E699K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	833	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.K832K(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCCAAGGAGCCTGCACC	0.584000														141			55		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072975	98072975	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98072975C>T	uc011bgv.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTATTTCCCTGTATGAA	0.433000														175			64		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934626	28934626	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:28934626C>T	uc002kwp.3	+	14	2679	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	DSG1_uc010xbp.2_Missense_Mutation_p.P182S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	823					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTACTGCATCCTAAGCCTAT	0.517000														93			36		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66667002	66667002	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:66667002G>A	uc002sdu.3	+	2	724	c.267G>A	c.(265-267)ctG>ctA	p.L89L	MEIS1_uc002sdt.3_Silent_p.L89L|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Silent_p.L24L|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	89							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCTTAGCACTGATTTTTGAGA	0.493000														26			10		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22025287	22025287	+	Splice_Site	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:22025287C>G	uc010gtj.1	+	4	245	c.129_splice	c.e4-1	p.S43_splice	PPIL2_uc002zvh.4_Splice_Site_p.S43_splice|PPIL2_uc002zvi.4_Splice_Site_p.S43_splice|PPIL2_uc002zvg.4_Splice_Site_p.S43_splice|PPIL2_uc011aij.2_Intron	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	43	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CTTTTTCAGTCTCTCTCTGCA	0.502000														103			25		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011773	37011773	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:37011773C>G	uc001uvr.4	+	2	655	c.305C>G	c.(304-306)aCa>aGa	p.T102R	CCNA1_uc010teo.2_Missense_Mutation_p.T58R|CCNA1_uc010abq.3_Missense_Mutation_p.T58R|CCNA1_uc010abp.3_Missense_Mutation_p.T58R|CCNA1_uc001uvs.4_Missense_Mutation_p.T101R|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	102					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TAGGGGATCACAAGAATCAGG	0.483000														93			27		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259976	215259976	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:215259976C>T	uc001hkq.3	+	1	481	c.312C>T	c.(310-312)tcC>tcT	p.S104S	KCNK2_uc001hko.3_Silent_p.S100S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.S89S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	104							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CATTCATATCCCAACATTCCT	0.458000														89			24		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618826	141618826	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141618826G>A	uc003vwu.1	+	0	151	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGTCTGTGTGGATAAACGTCT	0.448000														96			49		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85607846	85607846	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:85607846C>T	uc004amo.1	-	14	2276	c.2015G>A	c.(2014-2016)gGg>gAg	p.G672E		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	672					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCAAAGTGCCCTGGGACACA	0.483000														95			37		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656526	12656526	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:12656526G>A	uc002gno.2	+	9	2220	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R	MYOCD_uc002gnn.2_Missense_Mutation_p.G641R|MYOCD_uc002gnp.1_Missense_Mutation_p.G545R|MYOCD_uc002gnq.2_Missense_Mutation_p.G360R	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	641					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCACCGCTGGGGGCTGTGAA	0.557000														100			44		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412905	19412905	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:19412905C>T	uc010tcj.1	-	0		c.33205G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CAATTTTCATCCATCAGATCT	0.279000														77			16		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435073	10435073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10435073C>T	uc010coi.3	-	21	2702	c.2574G>A	c.(2572-2574)atG>atA	p.M858I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M858I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTTCCTTCATGGTGGCCA	0.423000														58			16		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362651	10362651	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10362651C>T	uc002gmn.3	-	14	1615	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	502	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTACTCTTCCTGCTCCAGC	0.488000														67			23		0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815993	37815993	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:37815993C>T	uc011cpi.2	-	2	596	c.396G>A	c.(394-396)ctG>ctA	p.L132L	GDNF_uc011cpd.2_Silent_p.L80L|GDNF_uc011cpe.2_Silent_p.L106L|GDNF_uc011cpf.2_Silent_p.L106L|GDNF_uc011cpg.2_Silent_p.L149L|GDNF_uc011cph.2_Silent_p.L123L	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	132					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTTCATAGCCCAGACCCAAGT	0.458000														67			30		0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31548997	31548997	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:31548997G>A	uc001uti.3	+	6	842	c.823G>A	c.(823-825)Gat>Aat	p.D275N		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	275																	ACAAATTATTGATCGCTTTAT	0.294000														8			3		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430347	29430347	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29430347G>A	uc003nmi.3	+	2	1244	c.801G>A	c.(799-801)ggG>ggA	p.G267G	OR2H1_uc003nmj.1_Silent_p.G267G|OR2H1_uc010jri.2_Silent_p.G189G|OR2H1_uc021ytr.1_Silent_p.G267G	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ATGCCCAAGGGAGGGGCAAGT	0.527000														98			16		0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457302	15457302	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15457302G>T	uc003bzs.1	-	3	766	c.508C>A	c.(508-510)Ctt>Att	p.L170I	METTL6_uc011avp.1_Missense_Mutation_p.L125I|METTL6_uc003bzt.1_Missense_Mutation_p.L170I	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	170							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TGTAAGACAAGGTGCATCTTA	0.428000														59			24		2.79863e-10	2.8378e-10	1	1	0
ZFP37	7539	broad.mit.edu	37	9	115818872	115818872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:115818872C>T	uc011lwz.1	-	0	125	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ZFP37_uc004bgm.1_Missense_Mutation_p.E33K|ZFP37_uc011lxa.1_Missense_Mutation_p.E33K	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	33	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L32M(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAGCCATCTCCAGTGGTCGC	0.622000														135			41		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29111997	29111997	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:29111997G>A	uc003szv.3	-	7	771	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	CPVL_uc003szw.3_Missense_Mutation_p.H218Y|CPVL_uc003szx.3_Missense_Mutation_p.H218Y	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	218					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTGAGGGAATGGATGAGGTGT	0.433000														33			13		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221123	48221123	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:48221123G>A	uc002eff.1	-	19	3272	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	ABCC11_uc002efg.1_Silent_p.F974F|ABCC11_uc002efh.1_Silent_p.F974F|ABCC11_uc010vgk.1_Non-coding_Transcript|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	974	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TATAATAAATGAAGCAAATAA	0.483000														23			21		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50660663	50660663	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:50660663G>A	uc003tpi.2	-	15	1817	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	GRB10_uc003tph.3_Nonsense_Mutation_p.R533*|GRB10_uc003tpj.2_Nonsense_Mutation_p.R545*|GRB10_uc003tpk.2_Nonsense_Mutation_p.R591*|GRB10_uc010kzb.2_Nonsense_Mutation_p.R533*|GRB10_uc003tpl.2_Nonsense_Mutation_p.R585*|GRB10_uc003tpm.2_Nonsense_Mutation_p.R533*	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	591					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAGGCCACTCGGATGCAGTGG	0.517000									Russell-Silver syndrome					74			19		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538351	63538351	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63538351A>G	uc011kdm.2	+	3	1103	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TTCATACTGGAGAGAAACCCT	0.373000														1			2		0	0	1	0	0
CHCHD6	84303	broad.mit.edu	37	3	126452010	126452010	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126452010C>T	uc010hsj.1	+	3	394	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CHCHD6_uc003ejf.1_Missense_Mutation_p.S119F	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 6 (CHCHD6), mRNA.	119										endometrium(2)|large_intestine(3)|lung(3)	8						TCCAAGGCATCCCTGCCCACG	0.572000														29			11		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43773150	43773150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:43773150G>A	uc001ciu.3	+	5	997	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	TIE1_uc010okd.2_Missense_Mutation_p.G274S|TIE1_uc010oke.2_Missense_Mutation_p.G229S|TIE1_uc009vwq.3_Missense_Mutation_p.G230S|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Missense_Mutation_p.G274S	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	274	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGTGCCCAGGCATATCAGG	0.632000														39			20		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921171	5921171	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:5921171T>A	uc003zjq.4	-	7	5041	c.4825A>T	c.(4825-4827)Aaa>Taa	p.K1609*	KIAA2026_uc010mht.3_Nonsense_Mutation_p.K784*	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1609										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGCTACTTTTGTCTTCTCCT	0.363000														38			13		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242189371	242189371	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:242189371T>C	uc002waz.3	-	11	1570	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	HDLBP_uc002wba.3_Missense_Mutation_p.K466R|HDLBP_uc021vzg.1_Missense_Mutation_p.K433R	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	466	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding	p.K466N(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CACGGACACCTTGTACTGGTC	0.517000														49			45		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223559	25223559	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25223559C>A	uc021sgb.1	+	7	1742	c.700C>A	c.(700-702)Cct>Act	p.P234T	SNRPN_uc001ywp.1_Missense_Mutation_p.P231T|SNRPN_uc001ywq.1_Missense_Mutation_p.P231T|SNRPN_uc001ywr.1_Missense_Mutation_p.P231T|SNRPN_uc001yws.1_Missense_Mutation_p.P231T|SNRPN_uc001ywt.1_Missense_Mutation_p.P231T|SNRPN_uc001ywy.1_Missense_Mutation_p.P231T|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P231T	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	231	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.G234*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TCCAGGTCCACCTCCCCCAGG	0.463000									Prader-Willi syndrome					133			42		1.03325e-14	1.05053e-14	1	1	0
RP1	6101	broad.mit.edu	37	8	55534024	55534024	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55534024G>A	uc003xsd.1	+	1	646	c.498G>A	c.(496-498)acG>acA	p.T166T	RP1_uc011ldy.1_Silent_p.T166T	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCGAAGACGAGGCGTGCGG	0.647000														84			28		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784718	91784718	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:91784718A>G	uc001doa.4	-	24	2828	c.2729T>C	c.(2728-2730)tTg>tCg	p.L910S	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.L589S|HFM1_uc001dob.4_Intron|HFM1_uc010osv.1_Missense_Mutation_p.L594S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	910	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAACTATTCAATAGTACAGC	0.308000														31			12		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033369	122033369	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:122033369C>T	uc022akp.1	-	21	3311	c.2889_splice	c.e21-1	p.K963_splice	CADPS2_uc003vkg.4_Intron|CADPS2_uc022akq.1_Splice_Site|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Splice_Site_p.K963_splice	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	963	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGGCGATATTCCTGTAAAGAA	0.458000														42			19		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53187985	53187985	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53187985C>T	uc001say.3	-	1	842	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	259	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532000														125			37		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	A	A	rs145122906		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10399321G>A	uc002gmo.3	-	34	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1705						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.I1705I(2)		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						CCTGTTCTGCGATTTTCCTGC	0.532000														35			13		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44892134G>A	uc010xxa.2	-	3	337	c.294C>T	c.(292-294)atC>atT	p.I98I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.I91I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GAAGGTTCACGATATAATCCT	0.418000														51			20		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034516	7034516	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:7034516G>A	uc002knm.3	-	13	2107	c.2013C>T	c.(2011-2013)atC>atT	p.I671I	LAMA1_uc010wzj.2_Silent_p.I147I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	671	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGGCTCTGATCAAAAGAT	0.383000														32			10		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47648602	47648602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47648602C>T	uc002xtx.4	+	37	5232	c.5080C>T	c.(5080-5082)Ctt>Ttt	p.L1694F	ARFGEF2_uc010zyf.2_Missense_Mutation_p.L987F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1694					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGTGAAGCTCTTGCCTATTT	0.393000														176			45		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464727	104464727	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:104464727C>T	uc004ema.3	-	1	467	c.355G>A	c.(355-357)Gag>Aag	p.E119K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E119K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	119						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CGTTCCGTCTCCTGCTGCTCC	0.607000														11			9		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646636	57646636	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57646636G>A	uc002qnz.1	-	4	1455	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCCAGTGTGAATTTTCTCA	0.393000														96			23		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40040211	40040211	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:40040211A>C	uc001rmc.3	+	3	450	c.283A>C	c.(283-285)Atg>Ctg	p.M95L	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	95										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGAACTTACAATGTCGCCTCA	0.318000														82			34		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813856	158813856	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158813856C>T	uc001fsz.1	+	3	714	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	172					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.D171Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGCTGTGGATCATCCCCCACT	0.493000														111			28		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222183	29222183	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29222183G>A	uc010ezl.3	+	3	627	c.276G>A	c.(274-276)agG>agA	p.R92R	FAM179A_uc010ymm.2_Silent_p.R92R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	92							binding	p.R92S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCACCCCAGGAACCTCAGGG	0.632000														21			7		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76540072	76540072	+	Missense_Mutation	SNP	G	A	A	rs141150806	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:76540072G>A	uc010dhp.2	-	16	2524	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	DNAH17_uc002jvv.2_Missense_Mutation_p.S502L	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGGTTGGCCGACCAGTCCTG	0.493000														97			27		0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963841	74963841	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:74963841C>T	uc002ayn.3	-	5	927	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EDC3_uc002ayo.3_Missense_Mutation_p.E147K|EDC3_uc002aym.3_Missense_Mutation_p.E147K	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	147					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAAGGATTCCATGTGCCTG	0.488000														72			32		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856484	115856484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:115856484G>A	uc003ibu.3	-	5	2093	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	472	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P472S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTCTGTCGAGGGAGGACCTGA	0.393000														28			6		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400425	10400425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:10400425C>T	uc003bvt.3	-	13	2525	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E651K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E651K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E401K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	696					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGTGAGTTCGTTGAGGATG	0.657000														39			14		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55478817	55478817	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:55478817C>T	uc002iuz.1	+	5	563	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MSI2_uc010wnm.1_Silent_p.F108F|MSI2_uc002iva.3_Silent_p.F126F	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	130	RRM 2.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGCAATATTTCGAGCAGTTTG	0.488000			T	HOXA9	CML									85			15		0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201398282	201398282	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:201398282G>A	uc001gwo.1	-	1		c.289C>T						P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.						muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						TTAAAGTCTGGGATAAGATTC	0.507000														11			4		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990499	233990499	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233990499C>T	uc010zmo.2	+	3	547	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	INPP5D_uc010zmp.2_Missense_Mutation_p.P131S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	132					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAGAAACATCCCGCTGACTGC	0.592000														14			14		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470658	7470658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:7470658G>A	uc001qsx.1	+	4	801	c.801G>A	c.(799-801)tgG>tgA	p.W267*		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	267					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATATCATATGGAATATGTCTG	0.418000														34			22		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184818	32184818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32184818C>T	uc003obb.3	-	10	1904	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.E589K	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	589	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCATCCACCTCTGTTTGACAG	0.597000														325			98		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618367	77618367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:77618367C>T	uc003yau.2	+	1	2431	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	ZFHX4_uc003yat.1_Missense_Mutation_p.P682S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P682S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	682						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACTGGACAGCCTCACCCCAG	0.512000										HNSCC(33;0.089)				24			9		0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301285	3301285	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3301285G>A	uc002fvj.1	-	0	420	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGGCGAGACAGAGCATGGGGC	0.562000											OREG0007321	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		44			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845850	123845850	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123845850G>A	uc001lfv.3	+	3	4195	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E1279K|TACC2_uc010qtv.2_Missense_Mutation_p.E1279K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1279						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACTTGCCTTGGAAAATGCTGC	0.602000														35			13		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876392	120876392	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:120876392C>T	uc003eec.4	+	8	935	c.795C>T	c.(793-795)ttC>ttT	p.F265F	STXBP5L_uc011bji.2_Silent_p.F265F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	265					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.Q264E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCAAACAGTTCATGTGCAGCC	0.378000														35			14		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40879859	40879859	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:40879859C>A	uc001cfj.3	+	5	933	c.518C>A	c.(517-519)cCt>cAt	p.P173H	SMAP2_uc010ojh.2_Missense_Mutation_p.P173H|SMAP2_uc001cfk.3_Missense_Mutation_p.P143H|SMAP2_uc021oma.1_Missense_Mutation_p.P168H|SMAP2_uc010oji.2_Missense_Mutation_p.P93H|SMAP2_uc010ojj.2_5'UTR	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	173	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCACAGCTACCTCGGAAAAGC	0.418000														31			8		3.09899e-07	3.13392e-07	1	1	0
OR13C9	286362	broad.mit.edu	37	9	107380372	107380372	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:107380372G>A	uc011lvr.2	-	0	114	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCCCAGAAGGATGACCACAT	0.428000														65			13		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631201	11631201	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11631201C>T	uc002gne.3	+	27	5844	c.5776C>T	c.(5776-5778)Cga>Tga	p.R1926*	DNAH9_uc010coo.3_Nonsense_Mutation_p.R1220*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1926	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGTTTAATCGAATCTCCGT	0.478000														27			10		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519969	169519969	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:169519969G>T	uc001ggg.1	-	8	1450	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	435	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V434M(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATATTTTTGAACACGATCT	0.373000														23			8		0.000157383	0.000158392	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671862	49671862	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:49671862C>T	uc002efs.3	-	4	1499	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	ZNF423_uc010vgn.2_Missense_Mutation_p.G284R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	401					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D400N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGCCCTGCCCGTCATCCCGC	0.637000														22			16		0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77880383	77880383	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77880383G>A	uc001xtr.3	-	1	410	c.243C>T	c.(241-243)atC>atT	p.I81I	NOXRED1_uc010tvi.2_Silent_p.I81I	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	81					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACCTCCAATGATGCCCACCT	0.522000														14			12		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502326	94502326	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:94502326C>T	uc001dqh.3	-	25	3936	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1278					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1277T(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAATCCTCCGTGACCTTC	0.438000														103			41		0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27320460	27320460	+	Silent	SNP	C	T	T	rs148222785	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27320460C>T	uc002ril.2	+	4	1024	c.507C>T	c.(505-507)tcC>tcT	p.S169S	KHK_uc002rim.2_Silent_p.S169S|KHK_uc002rio.2_Silent_p.S85S	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	169					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.S169S(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGTGTCCGTGGAGGTGG	0.592000														62			15		0	0	1	0	0
YDJC	150223	broad.mit.edu	37	22	21982815	21982815	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:21982815C>T	uc002zvb.2	-	4	901	c.864G>A	c.(862-864)caG>caA	p.Q288Q	YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_3'UTR	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.	288					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GCACGCCATCCTGGGCAAGCT	0.687000														36			9		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242309	7242309	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:7242309G>A	uc010sfy.2	-	3	504	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	C1R_uc010sfz.1_Missense_Mutation_p.R163W|C1R_uc021quh.1_Missense_Mutation_p.R38W|C1R_uc010sga.1_Missense_Mutation_p.R115W	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	149	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATTTGCTCCGGGAAGCACAT	0.557000														23			14		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735033	56735033	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56735033G>A	uc002qmq.3	-	2	721	c.555C>T	c.(553-555)atC>atT	p.I185I	ZSCAN5A_uc010ygi.2_Silent_p.I68I|ZSCAN5A_uc002qmr.3_Silent_p.I185I|ZSCAN5A_uc002qms.1_Silent_p.I185I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	185					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCTGGGCAGGATCTGCAGCT	0.617000														30			13		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130513	71130513	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:71130513C>T	uc003tvy.3	+	6	1198	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	WBSCR17_uc003tvz.3_Missense_Mutation_p.R99C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	400						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAATGCTCTTCGCGTTGCTGA	0.537000														63			20		0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257041	114257041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:114257041C>T	uc002tjw.4	+	0	381	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	70					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGTTGCGCTTCCCCGAGAGCA	0.692000														24			60		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169812116	169812116	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169812116G>A	uc011cjx.2	+	10	2219	c.2008G>A	c.(2008-2010)Gat>Aat	p.D670N	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.D670N|PALLD_uc003irv.3_Missense_Mutation_p.D288N|PALLD_uc003irw.3_Missense_Mutation_p.D183N	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	894	Interaction with LASP1 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AATAGCCTCCGATGAGGAAAT	0.448000									Pancreatic Cancer, Familial Clustering of					68			16		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293494	120293494	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:120293494G>A	uc001eid.3	-	8	1546	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	HMGCS2_uc010oxj.2_Silent_p.F444F|HMGCS2_uc021osw.1_Silent_p.F252F	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	486					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AAGTACCTGGGAAAAGGCTGT	0.498000														160			74		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266289	124266289	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:124266289C>T	uc001lgj.2	+	3	988	c.860C>T	c.(859-861)tCc>tTc	p.S287F		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	287	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGCCCGTTTTCCCTTCAAAAC	0.617000														42			25		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804831	9804831	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:9804831G>A	uc003bst.3	-	3	467	c.282C>T	c.(280-282)atC>atT	p.I94I	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	94	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACAGCTGCATGATGAGGTAGA	0.577000														58			18		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635733	141635733	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141635733C>T	uc003vwv.1	-	4	423	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CLEC5A_uc011krm.1_Missense_Mutation_p.E53K|CLEC5A_uc003vww.1_Missense_Mutation_p.E76K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E53K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	76					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGATAAAATTCCCAGTCTTTG	0.398000														40			18		0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812744	77812744	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77812744G>A	uc001xto.1	-	2	275	c.275C>T	c.(274-276)gCc>gTc	p.A92V	TMED8_uc001xtn.1_5'Flank	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	92					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCACCAAGGCCTGAGCCTC	0.532000														53			20		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401139	90401139	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:90401139C>T	uc021opq.1	+	0	2512	c.2512C>T	c.(2512-2514)Ctg>Ttg	p.L838L	LRRC8D_uc001dnm.3_Silent_p.L838L|LRRC8D_uc001dnn.3_Silent_p.L838L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	838						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTTTGATACCCTGCCACTCGA	0.473000														57			24		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489641	76489641	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:76489641G>A	uc011cbo.2	+	2	464	c.429G>A	c.(427-429)agG>agA	p.R143R	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Missense_Mutation_p.E129K	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTCATCTGAGGAAAGCTGAGA	0.398000														104			55		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212144	26212144	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:26212144C>T	uc022buc.1	+	0	181	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P61S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	61	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCATTCCTCAGGAGTC	0.532000														17			25		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075196	104075196	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:104075196G>T	uc004bbb.3	+	5	1152	c.753G>T	c.(751-753)cgG>cgT	p.R251R	LPPR1_uc011lvi.2_Silent_p.R227R|LPPR1_uc004bbc.3_Silent_p.R251R|LPPR1_uc010mtc.3_Silent_p.R235R	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	251						integral to membrane	catalytic activity										CTGAGTATCGGAACCACTGCT	0.557000														88			26		1.32003e-05	1.33134e-05	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30136134	30136134	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30136134G>A	uc010jrx.3	+	2	1014	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	179					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCTGCAGCAGGAGCTGGAGCA	0.522000														37			15		0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291310	126291310	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126291310C>T	uc003ejc.3	-	2	634	c.77G>A	c.(76-78)aGg>aAg	p.R26K		NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN	Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA.	26										endometrium(1)|large_intestine(2)|skin(2)	5						CAATCGTGCCCTCACAGGCTC	0.602000														35			10		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394789	233394789	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:233394789G>A	uc001hvl.2	-	4	1054	c.819C>T	c.(817-819)ttC>ttT	p.F273F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	273						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCACGGCTGGAAAGAAACGT	0.522000														43			22		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509951	106509951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:106509951G>A	uc003vdv.4	+	1	2030	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E649K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E649K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	649					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAgaaactggagagcttgga	0.438000														15			10		0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530842	84530842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:84530842C>T	uc011lst.2	+	3	864	c.763C>T	c.(763-765)Caa>Taa	p.Q255*						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CACCCTATCCCAAGATATGAA	0.483000														31			4		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157982	50157982	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:50157982C>T	uc002poq.3	+	8	3597	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1158					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTGGGTCTGCCCCCTGGCCCC	0.672000														54			28		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946926	144946926	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:144946926C>T	uc003zaa.1	-	0	509	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	166						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGAGCACTCCCTGGGCGGGG	0.682000														11			5		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019436	74019436	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:74019436C>T	uc010wss.1	-	3	645	c.417G>A	c.(415-417)aaG>aaA	p.K139K	EVPL_uc002jqi.2_Silent_p.K139K|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	139	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGCACCATCTTCTCGTACA	0.627000														77			48		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263565	248263565	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248263565C>T	uc001ids.3	+	2	1225	c.888C>T	c.(886-888)gtC>gtT	p.V296V	OR2L13_uc021pmc.1_Silent_p.V296V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATAAGGAAGTCCTGGGGGCTA	0.473000														45			14		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75687068	75687068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:75687068C>T	uc001sxl.3	-	11	1153	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	CAPS2_uc001sxm.3_Missense_Mutation_p.R162Q|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.4_Missense_Mutation_p.R130Q|CAPS2_uc001sxj.4_Missense_Mutation_p.R305Q|CAPS2_uc001sxk.4_Missense_Mutation_p.R394Q	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTTGTGATTCGGAGTTTAAG	0.318000														37			6		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661034	40661034	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:40661034C>T	uc001zlk.1	+	7	2810	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	907					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCTACAATTCCAGACCAACT	0.612000														40			7		0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18770639	18770639	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:18770639C>T	uc002gup.2	+	3	486	c.164C>T	c.(163-165)cCt>cTt	p.P55L	PRPSAP2_uc002guo.2_Intron|PRPSAP2_uc010vyi.2_Intron|PRPSAP2_uc010vyj.2_Intron|PRPSAP2_uc010vyk.2_Missense_Mutation_p.P55L	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	55					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TACCAGGAACCTAACAGAGGT	0.443000														40			18		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63709527G>A	uc003tsx.3	+	1	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572000														31			11		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434361	85434361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:85434361G>A	uc001tac.3	+	2	337	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	LRRIQ1_uc001taa.1_Missense_Mutation_p.E76K|LRRIQ1_uc001tad.3_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	76										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGGACCTGGAAGATACTGA	0.313000														73			18		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179526234	179526234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:179526234C>T	uc001gmq.4	-	4	751	c.666G>A	c.(664-666)atG>atA	p.M222I	NPHS2_uc009wxi.3_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	222					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAGACGCTTCATAGTGGTTT	0.428000														22			8		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738772	41738772	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:41738772G>A	uc003orc.1	-	6	1308	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	355					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATTGGAAGAGGGTGTGAGCCC	0.652000														51			54		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567833	10567833	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:10567833C>T	uc002czw.3	+	8	1695	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ATF7IP2_uc010uyp.2_Silent_p.S56S|ATF7IP2_uc002czu.3_Silent_p.S512S|ATF7IP2_uc002czv.3_Intron|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGGCCTATCCAACTGCAATA	0.318000														19			5		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520135	84520135	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84520135A>T	uc004eeq.3	+	5	1676	c.790A>T	c.(790-792)Att>Ttt	p.I264F	ZNF711_uc004eep.3_Missense_Mutation_p.I264F|ZNF711_uc004eeo.3_Missense_Mutation_p.I264F|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	264				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.R264*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGAACAGAAATTGTCACAGA	0.368000														9			12		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116588	39116588	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:39116588G>T	uc002hvo.1	-	5	1198	c.1162C>A	c.(1162-1164)Cgg>Agg	p.R388R	KRT39_uc010wfm.1_Silent_p.R121R	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	388	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CATTCCAGCCGGGACTTGACG	0.478000														103			38		9.42957e-07	9.52563e-07	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62198490	62198490	+	Missense_Mutation	SNP	C	T	T	rs114630740	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:62198490C>T	uc002yfm.2	-	6	3113	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	PRIC285_uc002yfl.1_Missense_Mutation_p.E172K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	741					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGTAGTTCTCGTGGAAGACC	0.672000														89			19		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351348	72351348	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72351348T>C	uc002jkm.4	+	19	3032	c.2894T>C	c.(2893-2895)gTt>gCt	p.V965A		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	965					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCCTGGCTGTTCCCCCCAAC	0.657000														99			9		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495064	228495064	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:228495064G>A	uc009xez.1	+	45	12342	c.12298G>A	c.(12298-12300)Gtg>Atg	p.V4100M	OBSCN_uc001hsn.3_Missense_Mutation_p.V4100M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4100	Ig-like 42.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.V4099A(1)		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)				GGGGGCCGTGGTGCAATGGCT	0.647000														26			15		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747584	141747584	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141747584G>A	uc003vwy.3	+	22	2553	c.2499_splice	c.e22-1	p.S833_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	833	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTCCCCACAGTCGAAAGAAC	0.413000														23			7		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678767	3678767	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:3678767T>C	uc002wja.3	-	7	1800	c.1800A>G	c.(1798-1800)caA>caG	p.Q600Q	SIGLEC1_uc002wiz.4_Silent_p.Q600Q	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	600					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGAATGTTGGTTGTCGAGGGG	0.652000														11			4		0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58271584	58271584	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:58271584A>T	uc003jsa.2	-	13	2085	c.1913T>A	c.(1912-1914)aTa>aAa	p.I638K	PDE4D_uc003jrx.2_Missense_Mutation_p.I502K|PDE4D_uc003jry.3_Missense_Mutation_p.I336K|PDE4D_uc003jrz.3_Missense_Mutation_p.I574K|PDE4D_uc003jsb.3_Missense_Mutation_p.I577K|PDE4D_uc003jrt.2_Missense_Mutation_p.I336K|PDE4D_uc003jru.3_Missense_Mutation_p.I414K|PDE4D_uc003jrv.2_Missense_Mutation_p.I508K|PDE4D_uc003jrw.2_Missense_Mutation_p.I516K|PDE4D_uc003jrs.2_Missense_Mutation_p.I347K	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	638					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTCCTCCATTATCCGGTCCGT	0.512000														47			16		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805505	1805505	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:1805505G>T	uc002qxe.3	-	22	4066	c.3239C>A	c.(3238-3240)tCc>tAc	p.S1080Y	MYT1L_uc002qxd.3_Missense_Mutation_p.S1078Y|MYT1L_uc010ewk.3_Missense_Mutation_p.S76Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1080					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCCATCTGGGAATTGGATTC	0.343000														101			31		3.62531e-18	3.68994e-18	1	1	0
CFDP1	10428	broad.mit.edu	37	16	75446505	75446505	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:75446505C>T	uc002fdy.3	-	2	467	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CFDP1_uc002fdz.3_Silent_p.E24E|CFDP1_uc002fea.1_Silent_p.E110E	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	Homo sapiens craniofacial development protein 1 (CFDP1), mRNA.	110	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						AGAGTTCGTCCTCCTTCTTTT	0.473000														70			76		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572902	140572902	+	Silent	SNP	C	T	T	rs150690310		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140572902C>T	uc003lix.3	+	0	951	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F259F(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTGGGTTCCTTATTGTTA	0.463000														48			19		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	599121	599121	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:599121G>A	uc003mtd.3	-	7	981	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	EXOC2_uc003mte.3_Missense_Mutation_p.L283F|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	283					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGGTTGAAAAGAAACTTAAAT	0.318000														185			29		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66293621	66293621	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66293621C>T	uc001oii.1	+	11	1327	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	BBS1_uc001oil.1_Missense_Mutation_p.R251W|BBS1_uc010rpg.1_Missense_Mutation_p.R283W|BBS1_uc001oij.1_Missense_Mutation_p.R380W|BBS1_uc001oik.1_Missense_Mutation_p.R304W|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.R48W	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	380					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TTGCTTTGGCCGGTACGGGCG	0.562000									Bardet-Biedl syndrome					52			16		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078427	70078427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:70078427G>A	uc003heh.3	-	1	743	c.734C>T	c.(733-735)aCc>aTc	p.T245I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	245					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCAAATAAGGTAGTGGGTCT	0.353000														77			19		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915882	26915882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:26915882G>A	uc003jgs.1	-	2	548	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	CDH9_uc010iug.3_Missense_Mutation_p.R127C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	127	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTGGCACGAAGAATGTAC	0.393000														74			70		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	T	T	rs146026441	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6694466C>T	uc002mfm.3	-	23	3192	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1044					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAAGGCCCCCTGCCGCTTC	0.612000														42			21		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113616795	113616795	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:113616795G>A	uc001tuq.4	-	4	629	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	DDX54_uc001tup.3_Silent_p.L201L	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	201	Helicase ATP-binding.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTCCACCCAGGATCAGGGCA	0.547000														14			6		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	648636	648636	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:648636C>T	uc003gap.3	+	5	1004	c.951C>T	c.(949-951)atC>atT	p.I317I	PDE6B_uc003gao.4_Silent_p.I317I|PDE6B_uc011buy.2_Silent_p.I38I|BC020343_uc003gaq.1_Intron	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	317	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACAAAGTGATCGACTACGTCC	0.577000														67			15		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903853	5903853	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:5903853G>A	uc002wmg.3	+	3	1369	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	CHGB_uc010zqz.2_Missense_Mutation_p.E38K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	355						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGGCCCCTGAGGACCTGGA	0.527000														81			83		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199005	81199005	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:81199005G>A	uc002bfw.1	+	12	1672	c.1412_splice	c.e12-1	p.G471_splice	KIAA1199_uc010unn.1_Splice_Site_p.G471_splice	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	471										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCCCTAGGGAAACCAATGT	0.587000														63			22		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30733200	30733200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:30733200C>T	uc002wxj.2	+	7	1092	c.857C>T	c.(856-858)tCc>tTc	p.S286F	TM9SF4_uc010ztr.1_Missense_Mutation_p.S212F|TM9SF4_uc010zts.1_Missense_Mutation_p.S193F|TM9SF4_uc002wxk.2_Missense_Mutation_p.S269F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	286						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCATTAACTCCGTTGTTGTG	0.517000														37			17		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624287	33624287	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:33624287G>A	uc010mjx.3	+	0	65	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	6	S100A10-binding site (Potential).				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACTGTTCACGAAATCCTGTG	0.527000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			13		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897021	48897021	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:48897021A>G	uc002rwp.2	+	8	3365	c.3251A>G	c.(3250-3252)gAt>gGt	p.D1084G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.D1084G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.D1037G|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.D380G|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.D346G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1037					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GACGGGGGAGATCTGAAGGTA	0.393000														35			9		0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5164230	5164230	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:5164230C>T	uc003zix.3	-	1	341	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	109						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GACTGCATTTCCCAACTGTTT	0.318000														63			17		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723761	142723761	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142723761G>A	uc003wcc.1	-	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E152*(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGATGGGCCAGATTTCAGAAA	0.418000														41			16		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368843	100368843	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:100368843C>T	uc003pqh.1	-	5	1311	c.996G>A	c.(994-996)atG>atA	p.M332I	MCHR2_uc003pqi.1_Missense_Mutation_p.M332I	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	332						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGTGTTTCCCATATTGTTGA	0.408000														47			22		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153924289	153924289	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:153924289C>T	uc004fmk.1	-	7	1481	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	GAB3_uc004fmj.1_Missense_Mutation_p.R477Q|GAB3_uc010nve.1_Missense_Mutation_p.R478Q|GAB3_uc004fml.1_Missense_Mutation_p.R97Q	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	477										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAAGCTGGTTCGACTGCTAAG	0.418000														5			3		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720863	21720863	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:21720863C>T	uc002nqd.1	+	3	2145	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						gtcaggagatcgagaccgtcc	0.468000														11			4		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175432	159175432	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159175432C>T	uc001ftp.4	+	0	384	c.209C>T	c.(208-210)aCc>aTc	p.T70I	DARC_uc001fto.3_Missense_Mutation_p.T68I	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	68					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TTCATCCTCACCAGTGTCCTG	0.582000														85			30		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20057522	20057522	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:20057522C>T	uc010rdm.2	+	12	3216	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F	NAV2_uc001mpp.3_Missense_Mutation_p.S865F|NAV2_uc001mpr.4_Missense_Mutation_p.S929F|NAV2_uc021qew.1_Missense_Mutation_p.S929F|NAV2_uc001mpt.2_Missense_Mutation_p.S15F|NAV2_uc009yhx.3_Missense_Mutation_p.S15F|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	952						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GACAGCAGCTCCGTCAGCAGC	0.542000														38			6		0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443924	46443924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:46443924G>A	uc002pdv.2	-	3	724	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	226						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GAGCCGGTGGGGTTGGAGTTG	0.726000														17			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39438411	39438412	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:39438411_39438412GG>AA	uc001uwv.3	+	16	7961	c.7652_splice	c.e16-1	p.G2551_splice	FREM2_uc001uww.3_Splice_Site_p.G637_splice	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2551					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTATCATAGGCATGCTCCCC	0.406000														34			10		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22466417	22466417	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22466417C>T	uc001wcq.3	+	2	504	c.347C>T	c.(346-348)tCc>tTc	p.S116F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron|TCRA_uc010ajd.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 16, partial cds, clone: un 96.																		GCACAGTGTTCCCCAGGAACC	0.502000														20			6		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132396488	132396488	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:132396488C>T	uc001uje.3	+	13	1217	c.949_splice	c.e13-1	p.S317_splice		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	317	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GACTCTCAGTCCCTGGGCGAG	0.637000														32			6		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128127	6128127	+	Missense_Mutation	SNP	G	A	A	rs149424724	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6128127G>A	uc001qnn.1	-	27	4707	c.4457C>T	c.(4456-4458)tCg>tTg	p.S1486L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1486					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.S1486L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCCAGGGTCGAAACCCCCAA	0.592000														27			5		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646055	6646055	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6646055G>A	uc001mem.1	-	19	7592	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2397	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557000														27			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179445168	179445168	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179445168G>C	uc021vsy.1	-	265	59459	c.59234C>G	c.(59233-59235)aCt>aGt	p.T19745S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T13440S|TTN_uc021vta.1_Missense_Mutation_p.T13373S|TTN_uc021vtb.1_Missense_Mutation_p.T13248S|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20672	Fibronectin type-III 43.						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)			GTCAAAGTCAGTTGACTTTAT	0.388000														67			14		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32954009	32954009	+	Nonsense_Mutation	SNP	C	T	T	rs80359159		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:32954009C>T	uc001uub.1	+	22	9303	c.9076C>T	c.(9076-9078)Cag>Tag	p.Q3026*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3026					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCTAACATACAGTTAGCAGC	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				30			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510723	110510723	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:110510723T>C	uc003yne.3	+	65	10736	c.10632T>C	c.(10630-10632)ttT>ttC	p.F3544F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3544					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCCTGGGTTTAATTGCTCTG	0.373000										HNSCC(38;0.096)				48			12		0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931847	43931847	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43931847G>A	uc001zsh.3	-	5	926	c.711C>T	c.(709-711)gcC>gcT	p.A237A	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.A237A|CATSPER2_uc001zsj.3_Silent_p.A237A|CATSPER2_uc001zsk.3_3'UTR	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	237					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCACCTTGAGGGCCCTGACCA	0.478000														130			56		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959408	6959408	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:6959408G>A	uc002knm.3	-	53	7804	c.7710C>T	c.(7708-7710)ctC>ctT	p.L2570L	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.L23L|LAMA1_uc010wzj.2_Silent_p.L2046L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2570	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCGTGCAGGAGAGCTTTTC	0.557000														70			24		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903350	71903350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:71903350G>A	uc001orz.2	+	2	409	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	FOLR1_uc001osa.2_Missense_Mutation_p.E45K|FOLR1_uc001osb.2_Missense_Mutation_p.E45K|FOLR1_uc001osd.2_Missense_Mutation_p.E45K	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	45					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCACCACAAGGAAAAGCCAGG	0.577000														52			15		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817623	7817623	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7817623C>T	uc001mfp.1	-	0	867	c.867G>A	c.(865-867)agG>agA	p.R289R		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCTTGTTCCTGAGGCTGT	0.403000														70			26		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341706	157341706	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:157341706T>C	uc003wno.3	-	21	3031	c.2910A>G	c.(2908-2910)aaA>aaG	p.K970K	PTPRN2_uc003wnp.3_Silent_p.K953K|PTPRN2_uc003wnq.3_Silent_p.K941K|PTPRN2_uc003wnr.3_Silent_p.K932K|PTPRN2_uc011kwa.2_Silent_p.K993K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	970	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TATCAATCTCTTTAGCACCTG	0.547000														62			20		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231037598	231037598	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:231037598G>A	uc002vqg.3	-	14	1908	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	SP110_uc002vqh.3_Silent_p.F556F	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	556					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTCCTCATGGAAGACTCGTG	0.587000														23			22		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142204176	142204176	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142204176G>A	uc003yvy.3	+	22	3719	c.3441G>A	c.(3439-3441)ggG>ggA	p.G1147G	DENND3_uc010mep.3_Silent_p.G1108G|DENND3_uc003ywa.1_3'UTR|DENND3_uc003ywb.3_Silent_p.G197G	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1147										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCAAGGGGAAAATCTACG	0.632000														55			19		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131682	30131682	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30131682C>T	uc010jrx.3	+	0	700	c.221C>T	c.(220-222)cCc>cTc	p.P74L	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	74					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCCCCTGTGCCCCTGGGCCCG	0.632000														49			12		0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137717682	137717682	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:137717682G>A	uc004fam.3	-	3	1199	c.537C>T	c.(535-537)atC>atT	p.I179I	FGF13_uc004fan.3_Silent_p.I126I|FGF13_uc011mwi.2_Silent_p.I160I|FGF13_uc004faq.3_Silent_p.I189I|FGF13_uc004far.3_Silent_p.I160I|FGF13_uc011mwj.2_Silent_p.I189I|FGF13_uc011mwk.2_Silent_p.I133I	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	179					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.E178D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCCTTTCATGATCTCTCCTT	0.413000														18			27		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176306731	176306731	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176306731C>T	uc003mey.3	+	14	2565	c.2373C>T	c.(2371-2373)agC>agT	p.S791S		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	791	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCAGCTTCTTTGCCT	0.706000														31			9		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451835	29451835	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29451835C>T	uc002rmy.3	-	15	3682	c.2730G>A	c.(2728-2730)atG>atA	p.M910I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	910	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCACTTCTTCATGGCCTGGG	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					28			6		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22206747	22206747	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:22206747G>A	uc003svg.3	-	11	1078	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RAPGEF5_uc011jym.1_Silent_p.F105F	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	105					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACGTGAGAAGGAAGTCATCCA	0.458000														19			5		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140201409	140201409	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140201409G>A	uc004cmp.2	-	21	2820	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	EXD3_uc010ncf.1_Missense_Mutation_p.P513L	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	875					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCCTCAGAAGGGACTGCTGGC	0.652000														24			8		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763946	92763946	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:92763946C>T	uc003umh.1	-	4	2555	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	SAMD9L_uc003umj.1_Missense_Mutation_p.D447N|SAMD9L_uc003umi.1_Missense_Mutation_p.D447N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D447N|SAMD9L_uc003umk.1_Missense_Mutation_p.D447N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D447N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D447N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D447N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	447										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTCAGGATCAAACTCCAAC	0.343000														58			22		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801810	18801810	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:18801810G>A	uc003sui.3	+	13	2115	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	HDAC9_uc003sue.3_Missense_Mutation_p.E689K|HDAC9_uc011jyd.2_Missense_Mutation_p.E689K|HDAC9_uc003suh.3_Missense_Mutation_p.E689K|HDAC9_uc003suj.3_Missense_Mutation_p.E648K|HDAC9_uc003sua.1_Missense_Mutation_p.E667K	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	689	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.E692*(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCCTGGAGGAAATACAGCT	0.483000														22			4		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201499624	201499624	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:201499624C>T	uc002uvx.3	+	20	2433	c.2332C>T	c.(2332-2334)Ccc>Tcc	p.P778S	AOX1_uc010zhf.2_Missense_Mutation_p.P334S|AOX1_uc010fsu.3_Missense_Mutation_p.P144S	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	778					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CACACAGTTTCCCAAATATAT	0.408000														25			53		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														8			3		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118528	165118528	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:165118528C>T	uc011cjk.2	-	0	336	c.336G>A	c.(334-336)aaG>aaA	p.K112K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	112										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		GGTCTAAGCTCTTGAGGTTTT	0.423000														95			31		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37541745	37541745	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:37541745G>A	uc004aac.3	-	1	149	c.69C>T	c.(67-69)ccC>ccT	p.P23P	FBXO10_uc004aab.3_Silent_p.P7P|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	7	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACAGCTCCAAGGGGAGGCCAC	0.522000														28			11		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173490	126173490	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:126173490G>A	uc003vlr.2	-	7	2257	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S649F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	649					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S649F(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCGTCGGAAGGAGCATATGAT	0.453000										HNSCC(24;0.065)				31			21		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332903	175332903	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:175332903G>A	uc001gkp.1	-	10	2729	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F	TNR_uc009wwu.1_Missense_Mutation_p.S883F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	883	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGCTCCAGGAGACCATCAC	0.438000														42			22		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994008	32994008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:32994008C>T	uc001rlj.4	-	6	1757	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PKP2_uc001rlk.4_Missense_Mutation_p.G504S|PKP2_uc010skj.2_Missense_Mutation_p.G504S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	548					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCGAGCAAACCATTTGCTTTT	0.428000														112			33		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944103	55944103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55944103G>A	uc010rjb.2	+	0	10	c.10G>A	c.(10-12)Gat>Aat	p.D4N		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TATGGCTGATGATAATTTTAC	0.318000														56			19		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422076	31422076	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31422076C>T	uc010cap.1	+	11	1282	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	ITGAD_uc002ebv.1_Silent_p.A411A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	411					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCGAGCTAGCCCTGTGGAAGG	0.662000														51			11		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914025	35914025	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:35914025T>C	uc002hoa.3	-	13	1883	c.1800A>G	c.(1798-1800)atA>atG	p.I600M	SYNRG_uc010wde.2_Missense_Mutation_p.I522M|SYNRG_uc010wdf.2_Missense_Mutation_p.I522M|SYNRG_uc002hoc.3_Missense_Mutation_p.I521M|SYNRG_uc002hoe.3_Missense_Mutation_p.I522M|SYNRG_uc002hod.3_Missense_Mutation_p.I522M|SYNRG_uc010wdg.2_Missense_Mutation_p.I439M|SYNRG_uc002hob.3_Missense_Mutation_p.I600M|SYNRG_uc002hof.3_Missense_Mutation_p.I312M|SYNRG_uc010cvd.1_Missense_Mutation_p.I400M	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	600	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTTCTGTTGTATAGTTCCTG	0.398000														50			75		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223396630	223396630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223396630C>T	uc001hnx.3	-	6	2039	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	SUSD4_uc001hny.4_Missense_Mutation_p.E469K|SUSD4_uc010puw.2_Missense_Mutation_p.E309K	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	469						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATGCCACCTCCTCTGCCGTG	0.577000														58			22		0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155604733	155604733	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:155604733C>T	uc003wmk.1	-	0	235	c.84G>A	c.(82-84)agG>agA	p.R28R	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	28					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGAACCCCCTGCCCGGTC	0.612000														82			25		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022575	34022575	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34022575C>T	uc010gfc.1	-	1	879	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	GDF5OS_uc002xcj.3_Missense_Mutation_p.S329L|GDF5_uc002xck.1_Missense_Mutation_p.R213Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	213					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CACGGGACCTCGGTCATCTAG	0.612000														128			36		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261828	23261828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:23261828G>A	uc001yvh.1	+	10	1239	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						CCTGAGGAAGGAACTAGAGAG	0.577000														52			17		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:124413290C>T	uc010sam.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGATGTTCTTCCTTGAGACAA	0.433000														25			19		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209661	187209661	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:187209661G>A	uc003iza.1	+	14	2104	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	LOC285441_uc003izb.2_Non-coding_Transcript	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	591	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCATCTGGTAGGCATCACGAG	0.552000														48			32		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750517	17750517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:17750517C>T	uc011mix.2	+	8	5227	c.4889C>T	c.(4888-4890)tCc>tTc	p.S1630F	NHS_uc004cxx.3_Missense_Mutation_p.S1609F|NHS_uc004cxy.3_Missense_Mutation_p.S1453F|NHS_uc004cxz.3_Missense_Mutation_p.S1432F|NHS_uc004cya.3_Missense_Mutation_p.S1332F	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1609						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGGCAATCTCCGAGGGAGAG	0.602000														24			26		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917016	45917016	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:45917016C>T	uc003oxv.3	-	2	859	c.753G>A	c.(751-753)ctG>ctA	p.L251L	CLIC5_uc003oxu.3_Silent_p.L92L|CLIC5_uc003oxx.3_Silent_p.L92L	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	251					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGTCTCCTCCAGGAACTCCT	0.532000														158			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255703	140255703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140255703G>A	uc003lic.2	+	0	773	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D216N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	231	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTAATCGATGGCGGTAA	0.393000														52			11		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459366	162459366	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:162459366C>T	uc003iqh.3	-	9	1700	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	FSTL5_uc003iqi.3_Missense_Mutation_p.D421N|FSTL5_uc010iqv.3_Missense_Mutation_p.D421N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	422	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCTTCATCCACTCCTGCT	0.423000														80			39		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126143867	126143867	+	Silent	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:126143867C>G	uc011lzm.1	-	20	3121	c.2907G>C	c.(2905-2907)ctG>ctC	p.L969L	DENND1A_uc011lzl.1_Silent_p.L776L|DENND1A_uc004bny.1_Silent_p.L740L|DENND1A_uc004bnz.1_Silent_p.L958L|DENND1A_uc010mwh.1_Silent_p.L379L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	958	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTGTTGGCTCCAGGCCTTGAG	0.652000														33			8		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164175	12164175	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:12164175C>T	uc003nac.3	+	8	7817	c.7638C>T	c.(7636-7638)atC>atT	p.I2546I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2546					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCTCCAGATCTTGAACATAG	0.542000														55			14		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278616	44278616	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44278616G>A	uc002oxl.3	-	2	807	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AGGGCTGCGGGGAGGTCAGCG	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53042002	53042002	+	Silent	SNP	G	A	A	rs138032518	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53042002G>A	uc001sat.3	-	4	1110	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	359	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCTCTGGGCGATCTCCTCAT	0.567000														101			31		0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319108	81319108	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81319108C>T	uc001kal.4	-	2	229	c.132G>A	c.(130-132)agG>agA	p.R44R	SFTPA2_uc001kan.4_Silent_p.R44R|SFTPA2_uc001kam.2_Non-coding_Transcript	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	44	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCTCCCGTCCCTGCCTGGCA	0.622000									Pulmonary Fibrosis, Idiopathic					103			12		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724228	38724228	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:38724228G>A	uc001wum.1	-	0	1347	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	334						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCTTGTTCAGGGACAAGTGGT	0.562000														72			19		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49434949	49434949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:49434949G>A	uc001rta.4	-	30	6604	c.6604C>T	c.(6604-6606)Cct>Tct	p.P2202S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2202	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCCCCGTAGGACTAGGATAG	0.701000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				15			3		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011640	34011640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34011640C>T	uc001bxm.1	-	56	9274	c.9097G>A	c.(9097-9099)Gga>Aga	p.G3033R	CSMD2_uc001bxn.1_Missense_Mutation_p.G2889R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3008	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATTACCTCCACACTCAGGC	0.597000														52			18		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50664108	50664108	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:50664108C>T	uc002egg.2	+	6	698	c.474C>T	c.(472-474)agC>agT	p.S158S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	158	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACATCACCAGCTTGCTGCACA	0.582000														30			18		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145541454	145541454	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:145541454C>T	uc001eoa.3	+	27	3318	c.3242C>T	c.(3241-3243)tCc>tTc	p.S1081F	ITGA10_uc010oyv.2_Missense_Mutation_p.S950F|ITGA10_uc009wiw.3_Missense_Mutation_p.S938F|ITGA10_uc010oyw.2_Missense_Mutation_p.S988F	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	1081					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTTCAAGTCCCTGACGGTG	0.507000														12			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201924	140201924	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140201924G>A	uc003lhl.2	+	0	564	c.564G>A	c.(562-564)acG>acA	p.T188T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.T188T|PCDHAC2_uc003lhj.1_Silent_p.T188T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	204	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGAAACGAACTTTTTAG	0.363000														35			12		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532887	113532887	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:113532887G>A	uc001tuk.1	+	6	1763	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	476					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCCATCTACGGGGAGAAGACG	0.647000														25			15		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634460	1634460	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:1634460C>T	uc002ftj.2	+	3	4194	c.4065C>T	c.(4063-4065)taC>taT	p.Y1355Y	WDR81_uc002fth.2_Silent_p.Y304Y|WDR81_uc010vqp.1_Silent_p.Y152Y|WDR81_uc002fti.2_Silent_p.Y128Y|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	128										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGTGTACCTCTCAGACA	0.647000														16			15		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82353484	82353484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:82353484G>A	uc003hmi.1	-	12	1510	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	RASGEF1B_uc003hmj.1_Missense_Mutation_p.H455Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.H414Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	456					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTCTCTATATGATTTTCAGGT	0.378000														31			10		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325243	9325243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9325243C>T	uc002mla.2	-	0	305	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TAGGAGATGTCTTTGCTCCGT	0.488000														48			23		0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958828	10958828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10958828G>A	uc010shh.2	-	0	752	c.752C>T	c.(751-753)tCt>tTt	p.S251F		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	251					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAAAATAGAAGAAATATA	0.373000														24			12		0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369017	60369017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:60369017G>A	uc003jsp.4	+	1	320	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	65						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CTATGAAGCAGGGGATATTCC	0.308000														90			39		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:20033087G>A	uc002wrs.3	-	1	415	c.383C>T	c.(382-384)tCc>tTc	p.S128F	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000														57			29		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541939	55541939	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55541939G>C	uc003xsd.1	+	3	5645	c.5497G>C	c.(5497-5499)Gac>Cac	p.D1833H	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1833					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTCATGAGGACTTGCTGGA	0.428000														20			11		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214805901	214805901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:214805901C>T	uc001hkm.3	+	9	1576	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	468	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGGCGTTCCAGGCGAGTCA	0.448000														28			16		0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355105	42355105	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:42355105G>A	uc002xld.3	-	0	538	c.230C>T	c.(229-231)cCt>cTt	p.P77L	GTSF1L_uc002xlc.3_Missense_Mutation_p.P77L	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	77							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GACTTTCAGAGGGTTCTCGGT	0.532000														45			34		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4828127	4828127	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:4828127C>T	uc002cxq.3	-	8	1099	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	SEPT12_uc002cxr.3_Missense_Mutation_p.A233T|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	279					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.A279A(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCACAGTGCGCCATGTTCTCC	0.582000														19			5		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848881	37848882	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:37848881_37848882GG>AA	uc011byb.1	+	9	1320_1321	c.1247_1248GG>AA	c.(1246-1248)ggg>gAA	p.G416E	PGM2_uc011bya.1_Missense_Mutation_p.G277E|PGM2_uc011byc.1_Missense_Mutation_p.G256E	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	416					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATAGACCAGGGGAAAACTGTTT	0.381000														27			6		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26173736	26173736	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:26173736G>A	uc003abz.1	+	7	2306	c.2056G>A	c.(2056-2058)Ggc>Agc	p.G686S	MYO18B_uc003aca.1_Missense_Mutation_p.G567S|MYO18B_uc010guy.1_Missense_Mutation_p.G567S|MYO18B_uc010guz.1_Missense_Mutation_p.G567S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.G199S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	686	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTGTGGATGGCAGGGTCTC	0.582000														55			26		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408771	82408771	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:82408771C>T	uc001dit.4	+	5	697	c.516C>T	c.(514-516)ttC>ttT	p.F172F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F172F|LPHN2_uc001div.3_Silent_p.F172F|LPHN2_uc009wcd.3_Silent_p.F172F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	172	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATTTATTTCATGCCCTGGA	0.398000														52			24		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68620560	68620560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:68620560C>T	uc010bib.3	-	15	2029	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	ITGA11_uc002ari.3_Missense_Mutation_p.E648K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	648					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TTGGATGGCTCAAAGTGGAGG	0.627000														67			33		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5173466G>A	uc010qyy.2	-	0	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000														40			15		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873377	91873377	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:91873377C>T	uc004efk.2	+	6	4327	c.3482C>T	c.(3481-3483)tCc>tTc	p.S1161F	PCDH11X_uc004efl.2_Missense_Mutation_p.S1151F|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.S1153F|PCDH11X_uc004efn.2_Missense_Mutation_p.S1143F|PCDH11X_uc004efo.2_Missense_Mutation_p.S1124F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1161					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATCATTCCAGCTCTTCG	0.547000														15			17		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892352	11892352	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11892352C>T	uc010dyj.3	+	3	1907	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	ZNF441_uc002msn.4_Silent_p.L527L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATCTGATCTCTCAAGCTTTC	0.413000														13			4		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428108	79428108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79428108C>T	uc002kaf.2	+	24	6233	c.6233C>T	c.(6232-6234)cCc>cTc	p.P2078L	BAHCC1_uc002kae.2_Missense_Mutation_p.P1370L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2140							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCCCTGTTCCCCGTGCACAGC	0.697000														17			3		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11608463	11608463	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11608463G>A	uc002gne.3	+	25	5581	c.5513G>A	c.(5512-5514)gGa>gAa	p.G1838E	DNAH9_uc010coo.3_Missense_Mutation_p.G1132E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1838	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGTACCTGGGAAACACACCT	0.527000														39			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926588	61926588	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:61926588C>T	uc001jky.3	-	21	2883	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	ANK3_uc001jkx.3_Missense_Mutation_p.D27N|ANK3_uc010qih.2_Missense_Mutation_p.D832N|ANK3_uc001jkz.4_Missense_Mutation_p.D843N|ANK3_uc001jlb.1_Missense_Mutation_p.D378N|ANK3_uc001jlc.1_Missense_Mutation_p.D510N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	849					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACCTTCATCATCAGACATA	0.333000														24			10		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15439002	15439002	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:15439002G>A	uc001avm.4	+	13	2409	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	C1orf126_uc001avv.4_Non-coding_Transcript|C1orf126_uc009voh.3_Non-coding_Transcript|KAZN_uc001avs.4_Missense_Mutation_p.E157K	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	710					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGGAAAGGAGGAGAACAGCAG	0.577000														8			5		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71498390	71498390	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:71498390A>T	uc011caw.1	+	4	472	c.191A>T	c.(190-192)aAc>aTc	p.N64I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	64					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAATTCAACTTTATGAAC	0.303000														214			86		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8579050	8579050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:8579050C>T	uc003bqq.3	+	2	425	c.311C>T	c.(310-312)cCt>cTt	p.P104L	LMCD1_uc011atd.2_Missense_Mutation_p.P31L|LMCD1_uc011ate.2_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.P31L	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	104	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATGACCAACCCTATTGCTACT	0.547000														150			53		0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74004392	74004392	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:74004392C>T	uc001xol.1	+	0	465	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.P89P	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	151					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCGAGAAACCCTTGGTGCGGC	0.736000														20			3		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189477	167189477	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:167189477G>A	uc003fes.1	-	1	247	c.176C>T	c.(175-177)cCc>cTc	p.P59L	SERPINI2_uc003fer.1_Missense_Mutation_p.P49L|SERPINI2_uc003fet.1_Missense_Mutation_p.P49L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	49					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P49H(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TATTCCAAGGGGTGAAAATAT	0.393000														64			21		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242214	5242214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:5242214C>T	uc003jdl.3	+	16	2710	c.2572C>T	c.(2572-2574)Cct>Tct	p.P858S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P858S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	858	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATACTCCATGCCTCGCTTGGG	0.547000														71			24		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37152304	37152304	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:37152304C>T	uc002rpn.3	-	1	291	c.282G>A	c.(280-282)ttG>ttA	p.L94L	STRN_uc010ezx.3_Silent_p.L94L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	94					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GATCCTTCTTCAAATTTTCTT	0.368000														90			4		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720062	155720062	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:155720062G>A	uc003ioo.3	+	3	921	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	RBM46_uc011cim.1_Missense_Mutation_p.E250K|RBM46_uc003iop.1_Missense_Mutation_p.E250K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	250	RRM 3.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AACTACAGAGGAAACAATTAA	0.368000														11			8		0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762437	15762438	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15762437_15762438GG>AA	uc003caj.1	-	7	1033_1034	c.890_891CC>TT	c.(889-891)gcc>gTT	p.A297V	ANKRD28_uc003cai.1_Missense_Mutation_p.A143V|ANKRD28_uc011avz.1_Missense_Mutation_p.A143V|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.A327V|ANKRD28_uc003cam.2_Missense_Mutation_p.A330V	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	297						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TATTGACATCGGCCCCATTGCC	0.351000														38			16		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849767	54849767	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54849767G>A	uc002qfj.3	-	2	312	c.255C>T	c.(253-255)atC>atT	p.I85I	LILRA4_uc002qfi.3_Silent_p.I19I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	85	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCATGGATGGGATGGAGAGTT	0.537000														68			25		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718564	117718564	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:117718564G>A	uc001twn.2	-	7	2201	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	NOS1_uc021ren.1_Missense_Mutation_p.T161I|NOS1_uc021reo.1_Missense_Mutation_p.T161I|NOS1_uc001twm.2_Missense_Mutation_p.T497I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	497					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCCCAGGGTGGAGCCGTC	0.602000														44			17		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19940296	19940296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:19940296C>T	uc003cbl.4	-	7	1740	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	EFHB_uc003cbm.3_Missense_Mutation_p.G385E	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	515					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAGACAAGCTCCAAATGTGCA	0.388000														44			14		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291376	103291376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:103291376G>A	uc003ykr.2	-	42	6517	c.6062C>T	c.(6061-6063)cCa>cTa	p.P2021L	UBR5_uc003yks.2_Missense_Mutation_p.P2021L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2021					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	RNA binding|protein 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)			TCGGAAAAATGGATGGTTTTG	0.418000														61			14		0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7558930	7558930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7558930G>A	uc002gif.1	+	5	1278	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	232					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.Y231F(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CCCTACTATGGCAAAAAGTTC	0.607000														41			13		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308361	176308361	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176308361G>A	uc003mfa.3	-	17	2661	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L	HK3_uc003mez.3_Silent_p.L413L	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	857	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCTTCCAGGCCCCGGTTC	0.667000														48			20		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172282	95172282	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:95172282G>A	uc003ygh.2	-	11	1593	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	CDH17_uc011lgo.1_Missense_Mutation_p.H276Y|CDH17_uc011lgp.1_Missense_Mutation_p.H490Y	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	490	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTATGATATGATACAGAATT	0.443000														60			17		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984847	7984847	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7984847C>T	uc001mfv.1	-	0	213	c.196G>A	c.(196-198)Gga>Aga	p.G66R		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	66	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCTTTTCTCCATACTTTGAA	0.532000														58			20		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831279	36831280	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:36831279_36831280CT>TA	uc010xtd.2	-	3	1530_1531	c.1451_1452AG>TA	c.(1450-1452)aag>aTA	p.K484I	ZFP14_uc010eex.2_Missense_Mutation_p.K483I	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TACCACATTCCTTACATTCATA	0.381000														35			15		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433748	43433748	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43433748C>T	uc002ovl.4	-	3	654	c.552G>A	c.(550-552)caG>caA	p.Q184Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.Q63Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	185	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				TAGGGAGGCTCTGACCATTCA	0.502000														220			69		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494210	128494210	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:128494210G>A	uc003vnz.4	+	39	6876	c.6667G>A	c.(6667-6669)Ggg>Agg	p.G2223R	FLNC_uc003voa.4_Missense_Mutation_p.G2190R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2223	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCTGTGTTTGGGGACTTCCT	0.716000														23			6		0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838414	31838414	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31838414G>A	uc010jti.3	-	10	1069	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	SLC44A4_uc011dol.2_Missense_Mutation_p.R259C|SLC44A4_uc011dom.2_Missense_Mutation_p.R293C	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	335						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATGGCAATACGAATCCGCTGC	0.617000														111			33		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196793	31196793	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:31196793T>A	uc004dda.1	-	69	10460	c.10216A>T	c.(10216-10218)Atg>Ttg	p.M3406L	DMD_uc004dcq.1_Missense_Mutation_p.M677L|DMD_uc004dcr.1_Missense_Mutation_p.M946L|DMD_uc004dcs.1_Missense_Mutation_p.M946L|DMD_uc004dct.1_Missense_Mutation_p.M946L|DMD_uc004dcu.1_Missense_Mutation_p.M946L|DMD_uc004dcv.1_Missense_Mutation_p.M946L|DMD_uc004dcw.2_Missense_Mutation_p.M2062L|DMD_uc004dcx.2_Missense_Mutation_p.M2065L|DMD_uc004dcz.2_Missense_Mutation_p.M3283L|DMD_uc004dcy.1_Missense_Mutation_p.M3402L|DMD_uc004ddb.1_Missense_Mutation_p.M3398L|DMD_uc004dcp.1_Missense_Mutation_p.M338L|DMD_uc011mkb.1_Missense_Mutation_p.M338L|DMD_uc004dcm.1_Missense_Mutation_p.M338L|DMD_uc004dcn.1_Missense_Mutation_p.M338L|DMD_uc004dco.1_Missense_Mutation_p.M338L|DMD_uc010ngm.3_Missense_Mutation_p.M338L	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3406	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACGTTTCCATGTTGTCCCCC	0.448000														47			19		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477932	121477932	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:121477932C>T	uc001pxx.3	+	36	5228	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	SORL1_uc010rzp.1_Missense_Mutation_p.S546F|SORL1_uc010rzq.1_Missense_Mutation_p.S315F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1700	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGTGGGCCTCCCAGAGGGCT	0.453000														20			13		0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966000	139966000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:139966000C>T	uc003ihl.3	+	2	861	c.668C>T	c.(667-669)cCt>cTt	p.P223L		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	Homo sapiens CCR4 carbon catabolite repression 4-like (S. cerevisiae) (CCRN4L), mRNA.	223					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CCCTGGTCACCTTGTCTAGAT	0.448000														54			16		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005018	187005018	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:187005018G>A	uc003iyq.3	+	3	2279	c.2178G>A	c.(2176-2178)gaG>gaA	p.E726E	TLR3_uc011ckz.2_Silent_p.E449E|TLR3_uc003iyr.3_Silent_p.E449E	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	726					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCCACTTTGAGGGCTGGAGGA	0.363000														59			49		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110825108	110825108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:110825108C>T	uc001vqw.4	-	40	3637	c.3515G>A	c.(3514-3516)gGa>gAa	p.G1172E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1172	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GAATCCTCTTCCTGGTAGACC	0.443000														66			21		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47880452	47880452	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47880452C>T	uc010xyn.2	+	12	3044	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S	DHX34_uc010xyo.1_Missense_Mutation_p.P28S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	899						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGTCCGCATCCCTGCCCTCCA	0.642000														13			5		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670197	7670197	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:7670197G>T	uc002mgu.4	+	1	335	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CAMSAP3_uc002mgv.4_Silent_p.L78L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	78					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.L78L(5)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGGCTGCTGCTCTCAGCCG	0.667000														107			9		2.80697e-09	2.84472e-09	1	1	0
TPR	7175	broad.mit.edu	37	1	186304547	186304547	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186304547G>A	uc001grv.3	-	33	5131	c.4834C>T	c.(4834-4836)Cgc>Tgc	p.R1612C	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1612					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTCCAAGCGACTAATTCGA	0.428000			T	NTRK1	papillary thyroid									69			33		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660913	233660913	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233660913C>T	uc002vtj.4	+	15	1951	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	GIGYF2_uc010zmj.1_Missense_Mutation_p.P541S|GIGYF2_uc002vtg.2_Missense_Mutation_p.P535S|GIGYF2_uc002vti.4_Missense_Mutation_p.P541S|GIGYF2_uc002vtk.4_Missense_Mutation_p.P541S|GIGYF2_uc002vth.4_Missense_Mutation_p.P535S|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.P372S	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	541	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTACAAAGATCCTCAGGGAGA	0.383000														42			19		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416637	98416637	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:98416637G>A	uc001kmq.3	-	2	613	c.485C>T	c.(484-486)tCc>tTc	p.S162F	PIK3AP1_uc001kmp.3_5'UTR	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	162						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCGAGTAGGAAACAACCTT	0.572000														33			18		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26446099	26446099	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:26446099C>T	uc003nhz.3	+	4	844	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	BTN3A3_uc011dkn.2_Silent_p.L159L|BTN3A3_uc021ynh.1_Intron	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	201	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGGAGTGGGCCTGTATGCAGT	0.562000														102			26		0	0	1	0	0
LOC255025	255025	broad.mit.edu	37	3	94890835	94890835	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:94890835G>A	uc003drn.3	+	2		c.299G>A								Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA.																		ATGGGGGGTGGAAAACAGCCT	0.478000														14			9		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089649	27089649	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:27089649G>A	uc001bmv.1	+	7	2978	c.2605G>A	c.(2605-2607)Ggc>Agc	p.G869S	ARID1A_uc001bmt.1_Missense_Mutation_p.G869S|ARID1A_uc001bmu.1_Missense_Mutation_p.G869S|ARID1A_uc001bmw.1_Missense_Mutation_p.G486S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	869					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGGCCTTATGGCCCTAACAT	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									37			17		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306183	72306183	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72306183C>T	uc002jkf.3	+	10	1485	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	DNAI2_uc002jkg.3_Intron|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	459					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTCTGCCTCCGGGTGCAGGA	0.607000									Kartagener syndrome					53			21		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946388	58946388	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58946388G>A	uc002qst.4	-	2	824	c.423C>T	c.(421-423)ccC>ccT	p.P141P		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATGTGTAGGGTTTCTCCT	0.498000														71			32		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75673967	75673967	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:75673967G>A	uc002bai.3	-	17	3534	c.3275C>T	c.(3274-3276)cCt>cTt	p.P1092L	SIN3A_uc002baj.3_Missense_Mutation_p.P1092L|SIN3A_uc010uml.2_Missense_Mutation_p.P1092L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1092					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCTTCCACAGGGTCATCCGA	0.512000														112			54		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740899	140740899	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140740899G>A	uc003ljs.2	+	0	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.K399K|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	401	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTCAAAGAACTATTACA	0.483000														76			30		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026124	62026124	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62026124G>A	uc002jds.1	-	16	3067	c.2990_splice	c.e16-1	p.A997_splice		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	997					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTGCACGCAGGCTGATGGGG	0.652000														45			5		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33989090	33989090	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:33989090T>A	uc003ztq.1	-	4	436	c.323A>T	c.(322-324)aAt>aTt	p.N108I	UBAP2_uc011loc.1_Missense_Mutation_p.N70I|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.N33I|UBAP2_uc011log.1_Missense_Mutation_p.N107I|UBAP2_uc003ztr.2_Missense_Mutation_p.N33I	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	108										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTTTGCAAAATTCTTTTTCTT	0.388000														40			14		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135000137	135000137	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:135000137C>T	uc001llz.1	+	5	1286	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	KNDC1_uc001lma.1_Missense_Mutation_p.P364S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.P429S(2)|p.P429L(1)		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)		TGAGAGAATTCCAGAAGGAGC	0.662000														21			4		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79750874	79750874	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:79750874G>A	uc001jzn.3	-	20	2972	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	947					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTGTGGTCAGGATCAGCTCG	0.532000														31			16		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022285	120022285	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:120022285G>A	uc003ksq.3	+	1	959	c.796G>A	c.(796-798)Gga>Aga	p.G266R	PRR16_uc003ksp.3_Missense_Mutation_p.G243R|PRR16_uc003ksr.3_Missense_Mutation_p.G196R	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	266	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAAAATGGGGGAATGGGAAT	0.547000														25			12		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716301	13716301	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:13716301G>A	uc001rbt.2	-	12	4050	c.3871C>T	c.(3871-3873)Cag>Tag	p.Q1291*		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1291					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.Q1291H(1)		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)	TTCTTCTTCTGGGCCTTGGAA	0.622000														82			33		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31917638	31917638	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:31917638C>T	uc003tcm.2	-	4	898	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	PDE1C_uc003tcn.1_Missense_Mutation_p.R146Q|PDE1C_uc003tco.2_Missense_Mutation_p.R206Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R146Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R146Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	146					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R146Q(6)|p.R206Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTTGATGTCCGTCTATACAT	0.343000														23			9		0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107253027	107253027	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:107253027T>C	uc003hyh.3	+	4	703	c.662T>C	c.(661-663)gTt>gCt	p.V221A	AIMP1_uc011cfg.2_Missense_Mutation_p.V197A|AIMP1_uc003hyg.3_Missense_Mutation_p.V197A	NM_001142416	NP_004748	Q12904	AIMP1_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1), transcript variant 3, mRNA.	197	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	Golgi apparatus|aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GTGAATCATGTTCCTCTTGAA	0.393000														79			45		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088068	57088068	+	Silent	SNP	G	A	A	rs150087591		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57088068G>A	uc001njr.3	-	1	525	c.213C>T	c.(211-213)ccC>ccT	p.P71P	TNKS1BP1_uc001njs.3_Silent_p.P71P|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	71	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACTCAGCCAGGGGACCCCGGG	0.682000														16			11		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468585	56468585	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:56468585G>A	uc021wzo.1	-	0	591	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	ERC2_uc003dhr.1_Nonsense_Mutation_p.Q151*	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	151						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGCTGGGCCTGAAGATCTAAC	0.498000														163			80		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073314	197073314	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:197073314A>G	uc001gtu.3	-	17	5324	c.5067T>C	c.(5065-5067)gtT>gtC	p.V1689V	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1689					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTCATCTTAACAGTTGACT	0.313000														27			7		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439756	150439756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150439756G>A	uc022apw.1	+	5	1281	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.V177M	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GAAAGACCTGGTGCGGGAGTG	0.567000														82			45		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78322033	78322033	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:78322033C>T	uc002jyh.2	+	29	10188	c.10045C>T	c.(10045-10047)Ctt>Ttt	p.L3349F	RNF213_uc021uen.1_Missense_Mutation_p.L3300F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAGATTTCCTTCAGGCACA	0.587000														117			19		0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081560	53081560	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:53081560G>A	uc002aci.1	-	0	650	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	174					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCTGGCCCATGCCGGCCACGT	0.667000														77			21		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581184	178581184	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178581184C>T	uc003mjw.3	-	7	1350	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	ADAMTS2_uc011dgm.2_Missense_Mutation_p.M416I	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	416	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCGTGCTCCATGCCCAGCC	0.692000														6			3		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57733268	57733268	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:57733268C>T	uc002ixr.1	+	5	1304	c.861C>T	c.(859-861)caC>caT	p.H287H	CLTC_uc002ixp.3_Silent_p.H283H|CLTC_uc002ixq.1_Silent_p.H283H	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	283	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTTATATCCACCTCTATGATC	0.358000			T	"""ALK, TFE3"""	"""ALCL, renal """									86			46		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3667190	3667190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3667190G>A	uc002fwo.4	-	2	319	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	74					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATTTCATCCTGGACAAGGGAA	0.567000														56			14		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550134	21550134	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:21550134G>A	uc004czx.2	+	10	1732	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	CNKSR2_uc004czw.3_Missense_Mutation_p.E418K|CNKSR2_uc011mjn.2_Missense_Mutation_p.E369K|CNKSR2_uc011mjo.2_Missense_Mutation_p.E418K|CNKSR2_uc004czy.3_Missense_Mutation_p.E40K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	418	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTATGAATATGAAAAAGGAAG	0.338000														25			34		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071803	240071803	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:240071803C>T	uc021plc.1	+	0	1052	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	CHRM3_uc001hyp.3_Missense_Mutation_p.S351F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	351					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AACTCCGCCTCCTCCGACGAG	0.572000														9			5		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3146924	3146924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:3146924G>A	uc021xkv.1	+	23	3257	c.3112G>A	c.(3112-3114)Gtt>Att	p.V1038I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1038					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCCTTCCCAGTTTGCATTTG	0.358000														90			41		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125526566	125526566	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:125526566C>T	uc001lhk.1	-	9	1727	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	468					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCTGTCGATCCTCTGCCTCC	0.512000														50			18		0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66329733	66329733	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66329733G>A	uc021qma.1	+	8	1095	c.582G>A	c.(580-582)caG>caA	p.Q194Q	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	776	Actin-binding.|CH 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TACAGAAGCAGAATGGGATGA	0.592000														84			28		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953787	89953787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89953787G>A	uc003kju.3	+	20	4540	c.4444G>A	c.(4444-4446)Gat>Aat	p.D1482N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1482					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGATGCAGGATGTGAGGTC	0.418000														60			37		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118523964	118523964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118523964G>A	uc001ehk.2	-	42	6001	c.5933C>T	c.(5932-5934)cCa>cTa	p.P1978L	SPAG17_uc021osr.1_Missense_Mutation_p.P488L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1978						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAAATCTCTGGTTTTGGAAG	0.348000														43			21		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:9943739G>A	uc010uym.2	-	5	1512	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	401					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(2)|p.P401P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587000														55			24		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151860809	151860809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151860809G>A	uc003wla.3	-	42	10072	c.9853C>T	c.(9853-9855)Cag>Tag	p.Q3285*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2346*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q794*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3285	Gln-rich.|Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCTGGGGCTGGACACTGGGC	0.532000			N		medulloblastoma									32			9		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203959	84203959	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:84203959G>A	uc002fhl.4	+	7	1706	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	DNAAF1_uc010vnw.2_Missense_Mutation_p.E273K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	509	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCTGCCAGGGAAGGTAATGT	0.617000														16			16		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10240011	10240011	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:10240011C>G	uc021ogc.1	+	28	4747	c.4059C>G	c.(4057-4059)caC>caG	p.H1353Q	UBE4B_uc001aqs.4_Missense_Mutation_p.H1302Q|UBE4B_uc001aqr.4_Missense_Mutation_p.H1173Q|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.H757Q|UBE4B_uc001aqu.3_Missense_Mutation_p.H183Q	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1302					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACAGCGATCACTAAACCGTTC	0.547000														56			22		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238738022	238738022	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:238738022G>A	uc002vxi.4	+	12	2898	c.2766G>A	c.(2764-2766)tcG>tcA	p.S922S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	921							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GAATTAGTTCGAATAATTTAG	0.388000														35			51		0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360152	95360152	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95360152C>T	uc001kit.3	-	3	437	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	118					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTACTCACTTCCTTTCTGGAG	0.557000														61			12		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3343612	3343612	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3343612C>T	uc002fvm.3	-	8	1159	c.921G>A	c.(919-921)ctG>ctA	p.L307L	SPATA22_uc010vrg.2_Silent_p.L291L|SPATA22_uc010vrf.2_3'UTR|SPATA22_uc002fvo.3_Silent_p.L307L|SPATA22_uc002fvn.3_Silent_p.L307L|SPATA22_uc002fvp.3_Silent_p.L307L|SPATA22_uc010ckf.3_Silent_p.L264L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	307										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GGCCTCTAATCAGTCTCGGAA	0.328000														38			12		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294425	29294425	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29294425G>A	uc002rmt.2	-	0	2703	c.2703C>T	c.(2701-2703)acC>acT	p.T901T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	901					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTGAGGCTTGGTCAGGCTGG	0.677000														22			10		0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103238255	103238255	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:103238255A>T	uc022azl.1	-	2	437	c.428T>A	c.(427-429)tTa>tAa	p.L143*	RRM2B_uc003ykn.3_Nonsense_Mutation_p.L71*|RRM2B_uc010mbv.2_Nonsense_Mutation_p.L19*|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	71					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)			ATCCTTTGATAAGTCGACCTG	0.343000								Modulation of nucleotide pools						33			19		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2421251	2421251	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2421251C>T	uc001aji.1	+	9	1731	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F	PLCH2_uc010nyz.2_Missense_Mutation_p.S275F|PLCH2_uc009vle.1_Missense_Mutation_p.S275F|PLCH2_uc001ajj.1_Missense_Mutation_p.S275F|PLCH2_uc001ajk.1_Missense_Mutation_p.S275F	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	487					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCGAGGTGTCTGATGAGGAC	0.612000														55			31		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356074	201356074	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:201356074C>T	uc001gwm.3	-	2	650	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	LAD1_uc009wzu.1_Missense_Mutation_p.E161K	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	139						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGTGGGATTTCCAGTTCCTTC	0.632000														57			12		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533873	31533873	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:31533873G>A	uc003aka.3	-	3	1018	c.889C>T	c.(889-891)Cca>Tca	p.P297S		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	297					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGAGGGGCTGGGCTCCGGGAG	0.657000														103			33		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007581	161007581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:161007581C>T	uc003qtl.3	-	25	4149	c.4029G>A	c.(4027-4029)tgG>tgA	p.W1343*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3851	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTACTCCCATCTGACAC	0.502000														44			25		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84636176	84636176	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:84636176G>A	uc003uic.3	-	15	1890	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	SEMA3D_uc010led.3_Missense_Mutation_p.S617F|SEMA3D_uc003uib.3_Missense_Mutation_p.S256F	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	617	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTTGTTGGGATTTAGGTAT	0.388000														77			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866677	106866677	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:106866677G>A	uc021ser.1	-	432		c.13543C>T								Parts of antibodies, mostly variable regions.																		GCCTCCCCCAGACTCCACCAG	0.562000														74			21		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294948	5294948	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:5294948G>A	uc010zqw.2	-	0	76	c.68C>T	c.(67-69)tCc>tTc	p.S23F	PROKR2_uc010zqx.2_Missense_Mutation_p.S23F|PROKR2_uc010zqy.2_Missense_Mutation_p.S23F|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	23						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S23F(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAAGGAGAGGGAGGAGGCATG	0.498000										HNSCC(71;0.22)				63			56		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413566	178413566	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178413566C>T	uc003mjr.3	-	7	1868	c.1689G>A	c.(1687-1689)agG>agA	p.R563R	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.R146R|GRM6_uc003mjs.1_Silent_p.R183R	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	563					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGGCGTGGGCCTCATGTCCC	0.701000														26			8		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500260	155500260	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:155500260G>A	uc003qqb.3	+	12	3884	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	TIAM2_uc003qqe.3_Missense_Mutation_p.E871K|TIAM2_uc010kjj.3_Missense_Mutation_p.E404K|TIAM2_uc003qqf.3_Missense_Mutation_p.E247K|TIAM2_uc011efl.1_Missense_Mutation_p.E207K|TIAM2_uc003qqg.3_Missense_Mutation_p.E183K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	871	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCACCATATGAATATATGCA	0.388000														29			12		0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144839	25144839	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:25144839G>A	uc001upm.3	+	3		c.380G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		GCAAATATGGGAACTCCAATG	0.438000														22			10		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106209924	106209924	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106209924G>A	uc001kyh.3	+	16	2606	c.2472G>A	c.(2470-2472)aaG>aaA	p.K824K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	824										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTAAAGAAGAAATACCTCG	0.313000														63			33		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809050	43809050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:43809050C>T	uc002zbb.2	-	3	511	c.310G>A	c.(310-312)Gag>Aag	p.E104K	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.E104K|TMPRSS3_uc002zbd.3_Missense_Mutation_p.E104K	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	104	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCGGTACTCGTCCTCCCCG	0.532000														46			16		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857848	110857848	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:110857848C>T	uc001vqw.4	-	15	1018	c.896G>A	c.(895-897)gGg>gAg	p.G299E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	299	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G299W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TACGGGACTCCCTTTTTCCCC	0.453000														100			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057220	9057220	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9057220G>A	uc002mkp.3	-	2	30430	c.30226C>T	c.(30226-30228)Ctg>Ttg	p.L10076L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10078	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCACTCAGATTTGGAGAT	0.473000														58			30		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777697	137777697	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:137777697G>A	uc004cfg.1	+	5	523	c.513G>A	c.(511-513)ggG>ggA	p.G171G	FCN2_uc004cfh.1_Silent_p.G133G	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	171	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTCGGCTGGGGGAGTTCTGGC	0.672000														58			14		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258728	56258728	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:56258728C>T	uc001nix.1	-	0	119	c.119G>A	c.(118-120)gGg>gAg	p.G40E	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAAGGTTCCCTGCCACCGT	0.517000														106			28		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888893	51888893	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:51888893C>T	uc001rys.1	+	20	3112	c.2934C>T	c.(2932-2934)ttC>ttT	p.F978F	SLC4A8_uc001rym.3_Silent_p.F925F|SLC4A8_uc001ryn.3_Silent_p.F925F|SLC4A8_uc001ryo.2_Silent_p.F925F|SLC4A8_uc010snj.2_Silent_p.F1005F|SLC4A8_uc001ryr.3_Silent_p.F978F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	978					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCATTGTTTTCCCAATGATGG	0.388000														31			15		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190619	15190619	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:15190619C>T	uc003zlr.2	-	10	1075	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	TTC39B_uc003zlq.2_Silent_p.R249R|TTC39B_uc011lmp.2_Silent_p.R181R|TTC39B_uc010mie.2_Silent_p.R344R|TTC39B_uc011lmr.2_Silent_p.R277R|TTC39B_uc011lmq.2_Silent_p.R346R|TTC39B_uc010mif.2_Silent_p.R346R|TTC39B_uc003zls.1_Silent_p.R181R|TTC39B_uc010mig.1_Silent_p.R249R|TTC39B_uc011lms.2_Non-coding_Transcript|TTC39B_uc003zlp.2_5'Flank	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	280							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ACCTCATGCTCCTTCCTGAAG	0.393000														37			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682579	100682579	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100682579C>T	uc003uxp.1	+	2	7935	c.7882C>T	c.(7882-7884)Cct>Tct	p.P2628S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2628	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AATCTCAACTCCTAGTGAAGT	0.453000														191			71		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19559495	19559495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:19559495G>A	uc003cbk.1	+	14	2743	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	KCNH8_uc010hex.1_Missense_Mutation_p.E311K	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	850						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTCAGATCCAGAGATTGGAGC	0.408000														58			14		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85922508	85922508	+	Missense_Mutation	SNP	G	A	A	rs79199677		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:85922508G>A	uc002sql.4	+	1	246	c.118G>A	c.(118-120)Gag>Aag	p.E40K	GNLY_uc010fgp.3_Missense_Mutation_p.E25K|GNLY_uc010ysx.2_Missense_Mutation_p.E67K	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	40					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						GCGTGATGAGGAGAAATCCTG	0.622000														23			5		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712557	70712557	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70712557C>T	uc010ttg.2	-	0	1962	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TACCATCTTTCACTGCACCAA	0.448000														29			13		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953520	8953520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:8953520G>A	uc002mko.2	+	0	252	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	56	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CCATCAATGGGAGGAGAGCTT	0.512000														51			22		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7804297	7804297	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7804297C>T	uc002gjd.2	+	18	3285	c.3283C>T	c.(3283-3285)Ccc>Tcc	p.P1095S	CHD3_uc002gje.2_Missense_Mutation_p.P1036S|CHD3_uc002gjf.2_Missense_Mutation_p.P1036S|CHD3_uc002gjh.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1036	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATACCTTTTTCCCGTGGCTGC	0.498000														46			17		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52876848	52876848	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52876848G>A	uc003dgc.4	-	6	878	c.747C>T	c.(745-747)tcC>tcT	p.S249S	TMEM110-MUSTN1_uc003dgb.4_5'UTR|TMEM110-MUSTN1_uc003dgd.3_Silent_p.S249S	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		ACTCCTCGTGGGATGCGGCCC	0.592000														30			19		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251523	216251523	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:216251523C>T	uc001hku.1	-	26	5867	c.5480G>A	c.(5479-5481)gGa>gAa	p.G1827E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1827	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCTGGTCTCCGGACTCCGA	0.423000										HNSCC(13;0.011)				91			29		0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45963020	45963020	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:45963020C>T	uc001cnw.3	-	2	683	c.213G>A	c.(211-213)gaG>gaA	p.E71E	CCDC163P_uc001cnt.3_Non-coding_Transcript|CCDC163P_uc001cnu.3_Non-coding_Transcript|CCDC163P_uc001cnv.3_Intron|CCDC163P_uc009vxt.2_Silent_p.E71E|CCDC163P_uc009vxu.2_Non-coding_Transcript|MMACHC_uc009vxv.3_5'Flank					Homo sapiens coiled-coil domain containing 163, pseudogene (CCDC163P), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)	2						TCTCTGACTCCTCCCACAGCA	0.448000														29			8		0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15410906	15410906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrY:15410906C>T	uc022ckf.1	-	25	4804	c.3799G>A	c.(3799-3801)Ggc>Agc	p.G1267S	UTY_uc004fsw.1_Missense_Mutation_p.G833S|UTY_uc022cjk.1_Missense_Mutation_p.G893S|UTY_uc022cjp.1_Missense_Mutation_p.G918S|UTY_uc022ckv.1_Missense_Mutation_p.G1186S|UTY_uc022cjq.1_Missense_Mutation_p.G611S|UTY_uc022ckw.1_Missense_Mutation_p.G1199S|UTY_uc022cjr.1_Missense_Mutation_p.G1030S|UTY_uc022ckx.1_Missense_Mutation_p.G1170S|UTY_uc022cjs.1_Missense_Mutation_p.G1154S|UTY_uc022cky.1_Missense_Mutation_p.G998S|UTY_uc022cjt.1_Missense_Mutation_p.G918S|UTY_uc022ckz.1_Missense_Mutation_p.G1003S|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_Missense_Mutation_p.G606S|UTY_uc022cjv.1_Missense_Mutation_p.G1087S|UTY_uc022clb.1_Missense_Mutation_p.G839S|UTY_uc022cjw.1_Missense_Mutation_p.G1212S|UTY_uc022cjx.1_Missense_Mutation_p.G1143S|UTY_uc022cjy.1_Missense_Mutation_p.G652S|UTY_uc022cjz.1_Missense_Mutation_p.G1091S|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_Missense_Mutation_p.G715S|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Missense_Mutation_p.G1215S|UTY_uc022ckh.1_Missense_Mutation_p.G918S|UTY_uc022cki.1_Missense_Mutation_p.G1200S|UTY_uc022ckj.1_Missense_Mutation_p.G1222S|UTY_uc022ckk.1_Missense_Mutation_p.G1046S|UTY_uc022ckl.1_Missense_Mutation_p.G606S|UTY_uc022ckm.1_Missense_Mutation_p.G1121S|UTY_uc022ckn.1_Missense_Mutation_p.G1186S|UTY_uc022cko.1_Missense_Mutation_p.G1091S|UTY_uc022ckp.1_Missense_Mutation_p.G1091S|UTY_uc004fsx.1_Missense_Mutation_p.G1170S|UTY_uc022ckq.1_Missense_Mutation_p.G1215S|UTY_uc022cjl.1_Missense_Mutation_p.G715S|UTY_uc022ckr.1_Missense_Mutation_p.G816S|UTY_uc022cjm.1_Missense_Mutation_p.G1190S|UTY_uc022cks.1_Missense_Mutation_p.G1046S|UTY_uc022cjn.1_Missense_Mutation_p.G839S|UTY_uc022ckt.1_Missense_Mutation_p.G1170S|UTY_uc022cjo.1_Missense_Mutation_p.G958S|UTY_uc022cku.1_Missense_Mutation_p.G918S|UTY_uc022clc.1_Missense_Mutation_p.G1200S|UTY_uc022cld.1_Missense_Mutation_p.G1062S|UTY_uc022cle.1_Missense_Mutation_p.G987S|UTY_uc022clf.1_Missense_Mutation_p.G1046S|UTY_uc022clg.1_Missense_Mutation_p.G918S|UTY_uc022clh.1_Missense_Mutation_p.G1137S|UTY_uc022cli.1_Missense_Mutation_p.G1186S|UTY_uc022clj.1_Missense_Mutation_p.G934S|UTY_uc022clk.1_Missense_Mutation_p.G706S|UTY_uc022cll.1_Missense_Mutation_p.G971S|UTY_uc022clm.1_Missense_Mutation_p.G822S|UTY_uc022cln.1_Missense_Mutation_p.G958S|UTY_uc022clo.1_Missense_Mutation_p.G1145S|UTY_uc022clp.1_Missense_Mutation_p.G998S|UTY_uc022clq.1_Missense_Mutation_p.G1140S|UTY_uc004fsy.3_Missense_Mutation_p.G1170S|UTY_uc022clr.1_Missense_Mutation_p.G918S|UTY_uc022cls.1_Missense_Mutation_p.G1199S|UTY_uc022clt.1_Missense_Mutation_p.G918S|UTY_uc022clu.1_Missense_Mutation_p.G1154S|UTY_uc022clv.1_Missense_Mutation_p.G963S|UTY_uc022clw.1_Missense_Mutation_p.G1245S|UTY_uc022clx.1_Missense_Mutation_p.G1267S|UTY_uc022cly.1_Missense_Mutation_p.G1215S|UTY_uc022clz.1_Missense_Mutation_p.G918S|UTY_uc022cjj.1_Missense_Mutation_p.G88S	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	1170					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TGCACAGTGCCTGCATTTATC	0.423000														3			8		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098462	69098462	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:69098462G>A	uc002sez.1	-	0	188	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	10					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GCAGAAAAGAGCGCACAGTGT	0.522000														42			7		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003703	75003703	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:75003703C>T	uc004ecj.2	-	0	1377	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	395	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCCCCAGGCTCTCTAGCAT	0.478000														43			38		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600974	29600974	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:29600974G>A	uc001usl.4	+	0	2227	c.2169G>A	c.(2167-2169)ttG>ttA	p.L723L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	713	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTCCGGATTGATGGTGTCTG	0.468000														36			17		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688835	60688835	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:60688835G>A	uc002sae.1	-	3	1440	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	BCL11A_uc002sab.3_Silent_p.P404P|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.P73P|BCL11A_uc010ypj.2_Silent_p.P370P|BCL11A_uc002sad.1_Silent_p.P252P|BCL11A_uc002saf.1_Silent_p.P370P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	404					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCACTTGTAGGGCTTCTCGC	0.597000			T	IGH@	B-CLL									309			128		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542262	63542262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:63542262G>A	uc003dlp.3	+	3	549	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Intron|SYNPR_uc003dlq.3_Missense_Mutation_p.E65K|SYNPR_uc010hnt.3_Missense_Mutation_p.E74K|SYNPR_uc011bfm.2_Intron	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	65	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CGAGGGAAAGGAACGGCAGAA	0.483000														30			10		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080534	194080534	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:194080534C>T	uc003ftt.3	-	2	1382	c.1257G>A	c.(1255-1257)ggG>ggA	p.G419G	LRRC15_uc003ftu.3_Silent_p.G413G|LRRC15_uc021xiy.1_Silent_p.G413G	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	413						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CACACAGTTTCCCCAGGTGAT	0.567000														26			4		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661428	9661428	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:9661428C>T	uc021ofy.1	+	4	929	c.872C>T	c.(871-873)gCc>gTc	p.A291V	TMEM201_uc001apy.3_Missense_Mutation_p.A291V|TMEM201_uc021ofz.1_Missense_Mutation_p.A132V	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	291						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCCTGGGCCTTTGGGCAG	0.682000														62			27		0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088624	65088624	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65088624C>T	uc021qli.1	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CDC42EP2_uc001odl.3_Silent_p.F85F	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	85					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCTTCCAGTTCACCCGCACCG	0.657000														16			15		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350390	100350390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100350390C>T	uc003uwj.3	+	13	2827	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	ZAN_uc003uwk.3_Missense_Mutation_p.P888S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	888	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCATTGAAGA	0.502000														32			20		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139591716	139591716	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:139591716C>G	uc021zfy.1	-	3	729	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	188						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GTACCTGTTTCTTTTGGAGGA	0.448000														31			11		0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49494192	49494192	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:49494192G>A	uc001rth.4	-	14	1561	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	LMBR1L_uc001rtg.4_Missense_Mutation_p.P402S|LMBR1L_uc001rti.4_Missense_Mutation_p.P387S	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	407					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGAAGACAGGAAGTGCTGAG	0.463000														87			20		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420801	54420801	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54420801G>A	uc003dhf.3	+	4	429	c.381_splice	c.e4+1	p.Q127_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.Q33_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACTTACAGGTAACTGATT	0.383000														14			3		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413369	72413369	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:72413369C>T	uc003twk.2	+	10	2837	c.2837C>T	c.(2836-2838)cCc>cTc	p.P946L	POM121_uc003twj.3_Missense_Mutation_p.P681L|POM121_uc010lam.1_Missense_Mutation_p.P681L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	946	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACGAGCACCCCCACGTTCAAC	0.647000														48			9		0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6645673	6645674	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6645673_6645674GG>AA	uc001qop.1	+	2	145_146	c.43_44GG>AA	c.(43-45)ggg>AAg	p.G15K	GAPDH_uc021qtv.1_Non-coding_Transcript	NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	15	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	TGGTCGTATTGGGCGCCTGGTC	0.515000														72			33		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684302	34684302	+	Silent	SNP	C	T	T	rs147248695		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34684302C>T	uc001bxt.3	+	6	2575	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	C1orf94_uc001bxs.4_Silent_p.S389S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	389							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTCGACATCCGGAGGGCCCT	0.448000														59			19		0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20877975	20877975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:20877975G>A	uc002kuf.3	-	14	996	c.887C>T	c.(886-888)tCc>tTc	p.S296F	TMEM241_uc010xaq.2_Intron|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	296						integral to membrane											TCTTGTTCAGGAGCTCTTCCG	0.577000														34			13		0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247898	220247899	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220247898_220247899GG>AA	uc002vle.2	-	9	1036_1037	c.890_891CC>TT	c.(889-891)gcc>gTT	p.A297V	DNPEP_uc002vli.2_Missense_Mutation_p.A244V|DNPEP_uc010zlg.2_Missense_Mutation_p.A305V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	287					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GAGGCTCTGTGGCCAGGGAGCC	0.574000														24			32		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582106	189582106	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189582106G>A	uc003fry.2	+	4	754	c.665G>A	c.(664-666)gGa>gAa	p.G222E	TP63_uc003frx.2_Missense_Mutation_p.G222E|TP63_uc003frz.2_Missense_Mutation_p.G222E|TP63_uc010hzc.1_Missense_Mutation_p.G222E|TP63_uc003fsa.2_Missense_Mutation_p.G128E|TP63_uc003fsb.2_Missense_Mutation_p.G128E|TP63_uc003fsc.2_Missense_Mutation_p.G128E|TP63_uc003fsd.2_Missense_Mutation_p.G128E|TP63_uc021xir.1_Missense_Mutation_p.G128E|TP63_uc010hzd.1_Missense_Mutation_p.G43E|TP63_uc003fse.1_Missense_Mutation_p.G103E	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	222					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCTCAGGGAGCTGTTATC	0.527000										HNSCC(45;0.13)				99			26		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416724	82416724	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:82416724G>A	uc001dit.4	+	7	1696	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.M505I|LPHN2_uc001div.3_Missense_Mutation_p.M505I|LPHN2_uc009wcd.3_Missense_Mutation_p.M505I|LPHN2_uc001diw.3_Missense_Mutation_p.M76I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	505					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATCTCTGCATGATTTCCACTG	0.443000														54			30		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568001	142568001	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142568001C>T	uc011kst.2	+	17	3429	c.2642C>T	c.(2641-2643)cCc>cTc	p.P881L	EPHB6_uc011ksu.2_Missense_Mutation_p.P881L|EPHB6_uc003wbs.3_Missense_Mutation_p.P589L|EPHB6_uc003wbt.3_Missense_Mutation_p.P355L|EPHB6_uc003wbu.3_Missense_Mutation_p.P589L|EPHB6_uc003wbv.3_Missense_Mutation_p.P265L	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	881	Poly-Pro.|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.L880W(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCGGCTGCCCCCGCCTCCA	0.537000														220			62		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380127	113380127	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:113380127G>A	uc003eam.3	-	6	813	c.402C>T	c.(400-402)gtC>gtT	p.V134V	KIAA2018_uc003eal.3_Silent_p.V78V	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	134					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAACAACAGAGACCTTTGAGT	0.383000														58			25		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41483784	41483784	+	Splice_Site	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:41483784C>T	uc010ucv.2	-	10	993	c.721_splice	c.e10-1	p.V241_splice	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Splice_Site_p.V183_splice	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	183					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATCTGCTACCTGTGGTATTT	0.378000														32			7		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233490611	233490611	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:233490611C>T	uc001hvt.4	+	3	1426	c.1165C>T	c.(1165-1167)Cca>Tca	p.P389S	KIAA1804_uc001hvs.1_Missense_Mutation_p.P389S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	389	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCATATTCGTCCATCGTTTGC	0.388000														54			21		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360875	70360875	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:70360875G>A	uc003hek.4	-	0	752	c.705C>T	c.(703-705)ttC>ttT	p.F235F	UGT2B4_uc011cap.2_Silent_p.F99F|UGT2B4_uc003hel.4_Silent_p.F235F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	235					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACTGTAGAACTGATCCC	0.328000														40			8		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279494	217279494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:217279494C>T	uc002vgc.4	+	2	397	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	SMARCAL1_uc002vgd.4_Missense_Mutation_p.R23C|SMARCAL1_uc010fvg.3_Missense_Mutation_p.R23C	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	23					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.R23G(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GGCTCTGGCCCGCAGAGCTGA	0.498000									Schimke Immuno-Osseous Dysplasia					70			96		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134079302	134079302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:134079302G>A	uc001qhd.1	-	4	1243	c.637C>T	c.(637-639)Cga>Tga	p.R213*	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	213					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGGCATTTCGAATTTGAGAA	0.343000														34			10		0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40900030	40900030	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:40900030C>T	uc022acd.1	+	14	1392	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	C7orf10_uc003thn.2_Silent_p.I430I|C7orf10_uc003tho.2_Silent_p.I382I|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	430							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAGGGCCATCGGGGAGCTGC	0.562000														77			23		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937809	72937809	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72937809C>T	uc010wrr.2	+	1	395	c.395C>T	c.(394-396)tCc>tTc	p.S132F	OTOP3_uc010wrq.2_Missense_Mutation_p.S114F	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	132						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGGTCCTCTCCCTGCTTTGG	0.627000														51			17		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690717	6690717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6690717C>T	uc002mfm.3	-	26	3474	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1138					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGTCTTTCTCGTTGTTGTTC	0.532000														27			9		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9615433	9615433	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:9615433C>T	uc010cod.3	+	13	2319	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	USP43_uc002gma.4_Silent_p.L462L|USP43_uc010vva.2_Silent_p.L768L|USP43_uc010coe.3_Silent_p.L570L|USP43_uc002gmc.4_Silent_p.L285L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	773					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCAACAGCCTCTGCAATCAGG	0.522000														24			15		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159998559	159998559	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:159998559G>A	uc021xgr.1	-	13	1606	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.I383I|IFT80_uc021xgq.1_Silent_p.I518I|IFT80_uc003fde.2_Silent_p.I383I|IFT80_uc003fdd.2_Silent_p.I203I	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	520						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCCACAAAGGATATTGCATG	0.318000														26			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167200	140167200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140167200C>T	uc003lhb.2	+	0	1325	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	PCDHAC2_uc003lha.2_Missense_Mutation_p.S442F|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S442F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	456	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGGTGTCCGTGGAGGTG	0.662000														78			38		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106152112	106152112	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106152112C>T	uc001kyh.3	+	9	1621	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	496			S -> T (in dbSNP:rs11192036).							NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGTGAGATCAGACAGAAAT	0.299000														47			30		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94341757	94341757	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:94341757C>T	uc001pfa.3	+	14	2059	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	616	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTTAAAGTCCCTGATGGTGG	0.403000														65			29		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931375	62931375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62931375G>A	uc001nwr.1	-	8	1565	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	522					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCAAGAAGAGGCTGGTTCCT	0.507000														76			40		0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170593060	170593060	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:170593060G>A	uc003qxm.3	-	8	1777	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	436	EGF-like 6.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTGCCTCCCCGAGAAGCCGGC	0.642000														6			4		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338000														53			23		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108380335	108380335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:108380335C>T	uc004bcr.3	+	8	1222	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	FKTN_uc011lvx.2_Nonsense_Mutation_p.Q336*|FKTN_uc004bcs.3_Nonsense_Mutation_p.Q336*|FKTN_uc011lvy.2_Intron|FKTN_uc010mtm.3_Nonsense_Mutation_p.Q204*	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	336					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTTAGCATTTCAGGATGCAGG	0.328000														14			9		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759954	54759954	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54759954G>A	uc010yer.1	-	3	691	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P203S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.P203S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCTGAGGGTTTTTCCTG	0.532000														66			19		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814205	60814205	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:60814205G>A	uc010dds.3	-	6	1423	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	MARCH10_uc010ddr.3_Missense_Mutation_p.H342Y|MARCH10_uc002jag.4_Missense_Mutation_p.H342Y|MARCH10_uc002jah.2_Missense_Mutation_p.H341Y|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	342							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTGAAGAATGACCTCTGCAA	0.458000														82			127		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004508	74004508	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:74004508C>T	uc010wss.1	-	21	5072	c.4844G>A	c.(4843-4845)gGg>gAg	p.G1615E	EVPL_uc002jqi.2_Missense_Mutation_p.G1593E|EVPL_uc010wst.1_Missense_Mutation_p.G1063E	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1593	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCAGCCGCCCACACTCCTG	0.687000														11			7		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:12907852C>T	uc010obf.2	-	1	517	c.291G>A	c.(289-291)gtG>gtA	p.V97V	LOC649330_uc009vno.2_Silent_p.V97V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	97							nucleic acid binding|nucleotide binding										CTGATCGTTTCACACCTGCGT	0.493000														88			6		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645824	186645824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186645824G>A	uc001gsb.3	-	6	882	c.745C>T	c.(745-747)Cct>Tct	p.P249S	PTGS2_uc009wyo.3_Missense_Mutation_p.P96S	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	249					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	ACTGTGGGAGGATACATCTCT	0.383000														20			7		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106028359	106028359	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:106028359G>A	uc004eml.3	+	2	1047	c.797G>A	c.(796-798)gGa>gAa	p.G266E	RNF128_uc004emk.3_Missense_Mutation_p.G240E	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	266						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CTGAAACAAGGAGACAAGGTA	0.343000														22			28		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570152	241570152	+	Silent	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:241570152C>A	uc010fzi.2	+	5	1748	c.876C>A	c.(874-876)acC>acA	p.T292T	GPR35_uc010fzh.2_Silent_p.T292T|GPR35_uc021vze.1_Silent_p.T261T|GPR35_uc002vzs.2_Silent_p.T261T	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	261						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTACATAACCAGCAAGCTCT	0.632000														105			4		1	1	1	1	0
CRAT	1384	broad.mit.edu	37	9	131862950	131862950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:131862950G>A	uc004bxh.3	-	6	1106	c.824C>T	c.(823-825)tCc>tTc	p.S275F	CRAT_uc004bxk.4_Missense_Mutation_p.S254F	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	275					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	p.D274N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGAGCGCACGGAATCCCGGTT	0.617000														23			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739043	38739043	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:38739043G>A	uc003ciq.3	-	26	5668	c.5668C>T	c.(5668-5670)Cca>Tca	p.P1890S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1890					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCATCTGGGAGTGATGCA	0.498000														79			28		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22508843	22508843	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22508843G>A	uc021rpo.1	+	1	1	c.-65_splice	c.e1-1		TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		CTAAGATACAGAAGTGGCGCC	0.388000														20			15		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453564	74453564	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:74453564G>A	uc003hhd.1	-	4	594	c.471C>T	c.(469-471)tcC>tcT	p.S157S	RASSF6_uc003hhc.1_Silent_p.S125S|RASSF6_uc010iik.1_Silent_p.S125S|RASSF6_uc010iil.1_Silent_p.S113S	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	157					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GACCTTCCTGGGAATTCCTTT	0.368000														49			15		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346276	233346276	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233346276G>A	uc002vsv.2	-	13	2134	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	ECEL1_uc010fya.1_Silent_p.F641F|ECEL1_uc010fyb.1_Silent_p.F350F	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	643					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTTTCGCAGGAAGCGGCTGT	0.632000														22			12		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74519768	74519768	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:74519768C>T	uc003php.3	+	26	3848	c.3417C>T	c.(3415-3417)tcC>tcT	p.S1139S	CD109_uc003phq.3_Silent_p.S1139S|CD109_uc010kba.3_Silent_p.S1062S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1139						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCACGCTCCCTGGATATTG	0.448000														12			10		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936354	111936354	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:111936354G>A	uc003dyu.3	-	14	1947	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Silent_p.T527T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	575					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCTAGCAAAGGTAACTGTTT	0.303000														46			13		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52841067	52841067	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52841067G>A	uc003dfv.2	+	18	2243	c.2207G>A	c.(2206-2208)aGg>aAg	p.R736K	ITIH3_uc011bek.1_Missense_Mutation_p.R544K	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	736					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGTGGAACAGGGCCGTGCCG	0.547000														6			5		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169392998	169392998	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169392998G>A	uc021xuh.1	-	2	274	c.164C>T	c.(163-165)tCa>tTa	p.S55L	DDX60L_uc003irq.4_Missense_Mutation_p.S55L|DDX60L_uc003irr.1_Missense_Mutation_p.S55L|DDX60L_uc003irt.1_Missense_Mutation_p.S55L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	55							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCACTTGAATGATTTTACACC	0.353000														33			17		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941124	13941124	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13941124G>A	uc002mxh.1	+	12	2419	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	ZSWIM4_uc010xng.1_Missense_Mutation_p.D667N	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	744							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTGCAGCTGGACACATCGCG	0.627000														40			14		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700889	72700889	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72700889G>A	uc002jlg.3	-	1	213	c.110C>T	c.(109-111)aCc>aTc	p.T37I	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.T40I|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Missense_Mutation_p.T37I|CD300LF_uc002jli.3_Missense_Mutation_p.T40I|CD300LF_uc010wra.2_Missense_Mutation_p.T37I|CD300LF_uc002jlj.1_Missense_Mutation_p.T40I	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	37	Ig-like V-type.			T -> A (in Ref. 5; AAZ81566).		integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACACTGCACGGTCAAGGAGCC	0.512000														74			88		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228521296	228521296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:228521296C>T	uc009xez.1	+	58	15913	c.15869C>T	c.(15868-15870)cCc>cTc	p.P5290L	OBSCN_uc001hsn.3_Missense_Mutation_p.P5290L|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5290	Ig-like 50.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				TACCCTGCTCCCAGATTATAC	0.602000														7			3		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465787	24465787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:24465787G>A	uc010tcw.2	-	2	663	c.643C>T	c.(643-645)Cct>Tct	p.P215S	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Missense_Mutation_p.G14E|C1QTNF9B-AS1_uc009zzx.3_Missense_Mutation_p.G23E|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.P215S	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	215	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTGAAGAAGGAAACTTGCTC	0.453000														116			25		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386648	89386648	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:89386648C>T	uc010upo.1	+	5	1194	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	ACAN_uc002bmx.3_Missense_Mutation_p.R274W|ACAN_uc010upp.1_Missense_Mutation_p.R274W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	274					cell adhesion		hyaluronic acid binding|sugar binding	p.R274Q(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAATGAGTGCCGGCGGCTGGG	0.637000														13			10		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130828463	130828463	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:130828463G>A	uc003kvn.2	-	13	1749	c.1543C>T	c.(1543-1545)Ctc>Ttc	p.L515F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.L565F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.L515F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.L515F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.L515F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.L232F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.L515F|RAPGEF6_uc010jdk.3_Missense_Mutation_p.L515F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	515	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATAACCGGAGATGACCATTC	0.378000														20			8		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632257	9632257	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:9632257C>T	uc010cod.3	+	14	3322	c.3322C>T	c.(3322-3324)Cac>Tac	p.H1108Y	USP43_uc002gma.4_Missense_Mutation_p.H797Y|USP43_uc010vva.2_Missense_Mutation_p.H1103Y|USP43_uc010coe.3_Missense_Mutation_p.H905Y|USP43_uc002gmc.4_Missense_Mutation_p.H620Y	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1108					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGTCAAATATCACACTCTTTC	0.507000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			25		0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128344834	128344834	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:128344834G>A	uc003ekr.1	-	6	1234	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	RPN1_uc011bkq.1_Silent_p.P214P	NM_002950	NP_002941	P04843	RPN1_HUMAN	Homo sapiens ribophorin I (RPN1), mRNA.	386					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGATTTCATAGGGACTATCAA	0.433000			T	EVI1	AML									37			15		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159089	129159089	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:129159089C>T	uc022cdu.1	+	5	3857	c.3813C>T	c.(3811-3813)acC>acT	p.T1271T	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.2_Silent_p.T33T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1271					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGAAAGACCCAACGGGACA	0.597000														19			29		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924846	10924846	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:10924846C>T	uc003mzo.3	+	14	1486	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	SYCP2L_uc011din.1_Missense_Mutation_p.S238F|SYCP2L_uc010jow.3_Missense_Mutation_p.S17F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	397						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCACAAGTTtccattcaagct	0.308000														14			10		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779739	50779739	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:50779739C>T	uc021vhh.1	-	7	2666	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K	NRXN1_uc002rxb.4_Missense_Mutation_p.R254K|NRXN1_uc021vhg.1_Missense_Mutation_p.R622K|NRXN1_uc021vhi.1_Missense_Mutation_p.R618K|NRXN1_uc021vhj.1_Missense_Mutation_p.R578K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	582	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGTCCGTCTCTCTGGAAGTC	0.443000														78			27		0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454796	29454796	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:29454796C>T	uc003aej.1	-	2	934	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	269										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTGGCTGCTTCCTGCCAGGGA	0.522000														71			33		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77755026	77755026	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:77755026C>T	uc003ugx.3	-	19	3806	c.3552G>A	c.(3550-3552)agG>agA	p.R1184R	MAGI2_uc003ugy.3_Silent_p.R1170R|MAGI2_uc010ldx.1_Silent_p.R777R	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1184	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCTCCCATTCCTTATTGCTG	0.413000														39			18		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506319	99506319	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:99506319C>T	uc003usd.3	-	3	883	c.684G>A	c.(682-684)acG>acA	p.T228T	TRIM4_uc003use.3_Silent_p.T202T|TRIM4_uc011kjc.2_Silent_p.T58T|TRIM4_uc003usf.3_Silent_p.T202T	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	228					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GCTTCTTCTTCGTCTCTTCTT	0.448000														62			24		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675421	100675421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100675421G>A	uc003uxp.1	+	2	777	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	242	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGAAATCAGCAC	0.493000														112			47		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675968	62675968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:62675968G>A	uc021ooc.1	+	4	1957	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	L1TD1_uc001dae.4_Missense_Mutation_p.E508K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	508										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAGACAAAAAGAAATTCCCTT	0.453000														25			9		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123282718	123282718	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:123282718G>A	uc001udc.3	+	7	1110	c.948G>A	c.(946-948)aaG>aaA	p.K316K	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Silent_p.K77K|CCDC62_uc021rfn.1_Silent_p.K131K	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	316						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATGACTCAAAGATGGAGGAAT	0.338000														18			10		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582484	47582484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47582484C>T	uc002xtx.4	+	7	1135	c.983C>T	c.(982-984)cCc>cTc	p.P328L		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	328					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGTGCTATTCCCCCAGGAGTT	0.473000														23			25		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165900	172165900	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172165900G>A	uc003fib.2	-	0	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GHSR_uc011bpv.2_Missense_Mutation_p.R102C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	102					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCAGAGGCGAACGAGGTCC	0.612000														32			12		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769628	31769628	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:31769628G>A	uc002nsy.4	-	1	1136	c.1071C>T	c.(1069-1071)aaC>aaT	p.N357N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	357					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G357S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGATGTAAGGGTTGGAGTTCT	0.562000														164			52		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580725	7580725	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7580725G>A	uc003mxp.1	+	22	4581	c.4302G>A	c.(4300-4302)aaG>aaA	p.K1434K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1434	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACAGCAAAAGGCCACTGGCT	0.473000														62			16		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914757	215914757	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:215914757C>T	uc001hku.1	-	59	12058	c.11671G>A	c.(11671-11673)Gaa>Aaa	p.E3891K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3891	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGGTTTTTCAGGTGGCATC	0.388000										HNSCC(13;0.011)				71			23		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927110	31927110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31927110C>T	uc002ecs.4	+	3	1749	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	514					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCGGAAAATTCATACTGGAGA	0.358000														38			10		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197655	44197655	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:44197655C>T	uc003oww.1	+	5	755	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLC29A1_uc011dvp.1_Missense_Mutation_p.S128F|SLC29A1_uc003owu.1_Missense_Mutation_p.S109F|SLC29A1_uc003owv.1_Missense_Mutation_p.S109F|SLC29A1_uc011dvq.1_Missense_Mutation_p.S151F|SLC29A1_uc003owx.1_Missense_Mutation_p.S109F|SLC29A1_uc003owy.1_Missense_Mutation_p.S109F|SLC29A1_uc003owz.1_Missense_Mutation_p.S109F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	109					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.S188S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	ATCCCCCAGTCCGTACGGATC	0.622000														40			11		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72970443	72970443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:72970443G>A	uc003pga.3	+	18	3166	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Missense_Mutation_p.R656Q|RIMS1_uc010kaq.3_Missense_Mutation_p.R503Q|RIMS1_uc011dyc.2_Missense_Mutation_p.R504Q|RIMS1_uc010kar.3_Missense_Mutation_p.R423Q|RIMS1_uc011dyd.2_Missense_Mutation_p.R489Q|RIMS1_uc003pge.3_Missense_Mutation_p.R247Q|RIMS1_uc003pgf.3_Missense_Mutation_p.R246Q|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Missense_Mutation_p.R247Q|RIMS1_uc003pgh.3_Missense_Mutation_p.R246Q|RIMS1_uc003pgd.3_Missense_Mutation_p.R247Q|RIMS1_uc011dye.2_Missense_Mutation_p.R9Q|RIMS1_uc011dyf.2_Missense_Mutation_p.R9Q|RIMS1_uc003pgb.4_Missense_Mutation_p.R656Q|RIMS1_uc010kas.1_Missense_Mutation_p.R489Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1030					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.G1029E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAACGAGGACGAAGTGCAGAA	0.443000														13			5		0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47075344	47075344	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:47075344C>T	uc001cqe.4	-	3	847	c.790G>A	c.(790-792)Gag>Aag	p.E264K	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Missense_Mutation_p.E212K	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	212							metal ion binding	p.E264Q(1)									CAGATCCGCTCTGTCATCTCC	0.557000														31			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223227	140223227	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140223227C>T	uc003lhs.2	+	0	2321	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P774L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	811					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCAGCCCCTGCCTTCCT	0.522000														34			15		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31201606	31201606	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31201606C>T	uc002ebf.3	+	11	1284	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	FUS_uc002ebe.2_Silent_p.G389G|FUS_uc002ebg.3_Silent_p.G188G|FUS_uc002ebh.3_Silent_p.G392G|FUS_uc010caj.1_Silent_p.G84G	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	393	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GACCCATGGGCCgtggaggct	0.567000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									47			21		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64427964	64427964	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64427964G>A	uc021qkw.1	-	10	2691	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	NRXN2_uc021qkx.1_Silent_p.I712I|NRXN2_uc001oas.3_Silent_p.I712I|NRXN2_uc001oaq.3_Silent_p.I410I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	743	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGGCAGCATGATCTTCATGT	0.602000														32			15		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853076	35853076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:35853076G>A	uc001byt.3	+	12	2214	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	ZMYM4_uc009vuu.3_Missense_Mutation_p.G680S|ZMYM4_uc001byu.3_Missense_Mutation_p.G388S|ZMYM4_uc009vuv.3_Missense_Mutation_p.G451S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	712					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGTTCTGTGGCAAGAATTG	0.303000														33			10		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004848	52004848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52004848G>A	uc002pwx.1	-	0	196	c.140C>T	c.(139-141)tCc>tTc	p.S47F	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	47	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGGGGGTAGGAGAAGGAGCA	0.567000														45			12		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302386	31302386	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31302386G>A	uc003jhe.2	+	5	1340	c.980G>A	c.(979-981)gGg>gAg	p.G327E	CDH6_uc003jhd.2_Missense_Mutation_p.G327E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCCAGGAAGGGATTATAACT	0.443000														25			11		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15330430	15330430	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:15330430A>G	uc002rcc.1	-	48	6556	c.6530T>C	c.(6529-6531)gTt>gCt	p.V2177A	NBAS_uc002rcb.1_Missense_Mutation_p.V17A|NBAS_uc010exl.1_Missense_Mutation_p.V1249A|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2177								p.V2177I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAAGTAAAACCAAGTGCTG	0.388000														50			18		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569593	49569593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:49569593C>T	uc021wxz.1	+	2	2118	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	DAG1_uc021wya.1_Missense_Mutation_p.S550F|DAG1_uc021wyb.1_Missense_Mutation_p.S550F|DAG1_uc021wyc.1_Missense_Mutation_p.S550F|DAG1_uc021wyd.1_Missense_Mutation_p.S550F|DAG1_uc021wye.1_Missense_Mutation_p.S550F|DAG1_uc021wyf.1_Missense_Mutation_p.S550F|DAG1_uc021wyg.1_Missense_Mutation_p.S550F|DAG1_uc021wyh.1_Missense_Mutation_p.S550F|DAG1_uc021wyi.1_Missense_Mutation_p.S550F|DAG1_uc021wyj.1_Missense_Mutation_p.S550F|DAG1_uc021wyk.1_Missense_Mutation_p.S550F|DAG1_uc003cxc.4_Missense_Mutation_p.S550F	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	550	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGCGAGAAGTCCTGGGTACAG	0.552000														23			5		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264941	32264941	+	Missense_Mutation	SNP	G	A	A	rs145759508		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:32264941G>A	uc002wzu.4	-	5	1176	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	346	Required for interaction with TRIM28.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GACTGGCTGGGATCTGTGGTG	0.632000														59			13		0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375261	204375261	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204375261C>T	uc001hav.4	-	1	2506	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	701					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AAGCATGTTCCCTGGAGTCTA	0.408000														49			16		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767364	77767364	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:77767364C>T	uc003yau.2	+	9	8594	c.8207C>T	c.(8206-8208)cCa>cTa	p.P2736L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2691L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2691						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCATCTTTGCCATTAACTAAA	0.413000										HNSCC(33;0.089)				30			15		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89954007	89954007	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89954007C>T	uc003kju.3	+	20	4760	c.4664C>T	c.(4663-4665)tCg>tTg	p.S1555L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1555					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCGTATTTCGGAAGAAAAT	0.353000														74			18		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685224	125685224	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:125685224C>T	uc022cds.1	-	0	1368	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	DCAF12L1_uc004eul.3_Silent_p.G456G	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	456										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCATAGTTCCCATGGAGGC	0.547000														32			39		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692992	40692992	+	Silent	SNP	C	T	T	rs142989436	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:40692992C>T	uc001rmg.4	+	24	3550	c.3429C>T	c.(3427-3429)tcC>tcT	p.S1143S	LRRK2_uc001rmh.1_Silent_p.S765S|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1143					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATTTCATCCCTATCAGAGA	0.408000														135			35		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281769	71281769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:71281769G>A	uc002jjn.3	-	1	1018	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	CDC42EP4_uc002jjo.3_Missense_Mutation_p.P291S|CDC42EP4_uc002jjp.1_Missense_Mutation_p.P221S|CDC42EP4_uc021ucn.1_Missense_Mutation_p.P291S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	291					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCGGGGCTGGGGGCCGCTGCT	0.716000														15			23		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997368	115997368	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:115997368C>T	uc003ibu.3	-	1	1504	c.825G>A	c.(823-825)ttG>ttA	p.L275L	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	275	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCCAAAAGTTCAAGTTGTTGC	0.453000														76			25		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95673862	95673862	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:95673862G>A	uc001vmd.4	-	30	4064	c.3945C>T	c.(3943-3945)ccC>ccT	p.P1315P	ABCC4_uc010afj.3_Silent_p.P106P|ABCC4_uc010afk.3_Silent_p.P1268P	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1315					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTAAGGTCGAGGGCTGTCCAT	0.383000														39			13		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31995809	31995809	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31995809G>A	uc003jhl.3	+	3	1494	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	PDZD2_uc003jhm.3_Missense_Mutation_p.G369E|PDZD2_uc011cnx.1_Missense_Mutation_p.G195E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	369	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGAAGGAAGGAGGTGCCGCT	0.577000														42			11		0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97941458	97941458	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:97941458G>A	uc003upj.3	-	7	1021	c.758C>T	c.(757-759)cCc>cTc	p.P253L		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	253					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGACACGGGGGTAGAGGC	0.483000														114			49		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	335148	335148	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:335148C>T	uc003msx.3	+	3	612	c.173C>T	c.(172-174)tCa>tTa	p.S58L	DUSP22_uc011dhn.1_Missense_Mutation_p.S58L|DUSP22_uc003msy.1_Missense_Mutation_p.S15L	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	58					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCAGCGGATTCACCATCTCAA	0.318000														47			7		0	0	1	0	0
ZNRD1	30834	broad.mit.edu	37	6	30029353	30029353	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30029353G>A	uc003noz.3	+	1	202	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ZNRD1-AS1_uc011dme.2_5'Flank|ZNRD1-AS1_uc003nox.1_5'UTR|ZNRD1-AS1_uc003rto.3_5'Flank|ZNRD1_uc003npa.3_Missense_Mutation_p.D18N	NM_014596	NP_740753	Q9P1U0	RPA12_HUMAN	Homo sapiens zinc ribbon domain containing 1 (ZNRD1), transcript variant b, mRNA.	18						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding										GTCGGACCTGGATTTCTGTTC	0.537000														72			19		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80071573	80071573	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:80071573G>A	uc003kgz.3	+	15	2567	c.2314G>A	c.(2314-2316)Gga>Aga	p.G772R		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	772					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGTAAAGGTTGGAAGGTAGGT	0.303000								Mismatch excision repair (MMR)						16			4		0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043420	30043420	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30043420C>T	uc003npe.3	-	0	209	c.147G>A	c.(145-147)gcG>gcA	p.A49A	RNF39_uc003npd.3_Silent_p.A49A	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	49						cytoplasm	zinc ion binding										CCTTCGAGCGCGCAGATGGCG	0.672000														28			5		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208489	106208489	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:106208489G>A	uc001yse.3	-	3	455	c.9C>T	c.(7-9)tcC>tcT	p.S3S	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		CAGGGGTCCGGGAGATCATGA	0.592000														78			34		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476213	120476213	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120476213G>A	uc004bjz.3	+	2	2098	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	TLR4_uc004bkb.3_Missense_Mutation_p.E403K|TLR4_uc004bka.3_Missense_Mutation_p.E563K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	603	LRRCT.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCTCTTGGTGGAAGTTGAACG	0.433000														22			6		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926328	70926328	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:70926328A>C	uc002ezr.3	-	55	9501	c.9350T>G	c.(9349-9351)gTc>gGc	p.V3117G		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3118										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAAACTTGGACATTTGTGGG	0.468000														90			17		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132171137	132171137	+	Silent	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:132171137T>C	uc011ecf.2	+	2	341	c.321T>C	c.(319-321)agT>agC	p.S107S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	107	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGTTAAAAGTTGCAAAGGTC	0.383000														21			16		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680441	159680441	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:159680441C>T	uc003lyb.1	-	6	1504	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	CCNJL_uc011dee.1_Missense_Mutation_p.G370R|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	418						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGCTGCTTCCATAGGTGGTG	0.597000														38			16		0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48624362	48624362	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:48624362G>A	uc011mmh.2	+	1	227	c.186G>A	c.(184-186)gaG>gaA	p.E62E	GLOD5_uc004dko.1_Silent_p.E62E	NM_001080489	NP_001073958			Homo sapiens glyoxalase domain containing 5 (GLOD5), mRNA.											endometrium(1)|lung(2)	3						TGGGCATGGAGGTCATGACTT	0.418000														0			4		0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882729	143882729	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143882729G>A	uc010lpc.3	+	0	2182	c.2133G>A	c.(2131-2133)agG>agA	p.R711R		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	711	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TGGATACAAGGGGCCCGTTCA	0.527000														120			43		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609246	120609246	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120609246G>T	uc003vjn.3	+	8	1030	c.896G>T	c.(895-897)gGt>gTt	p.G299V	ING3_uc003vjo.3_Missense_Mutation_p.G73V|ING3_uc003vjp.3_Missense_Mutation_p.G299V|ING3_uc011kns.2_Missense_Mutation_p.G284V	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	299					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCACGGAGTGGTCGAAAGAGC	0.438000														18			8		1.06961e-07	1.08225e-07	1	1	0
ACAA2	10449	broad.mit.edu	37	18	47320670	47320670	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:47320670G>A	uc002ldw.4	-	4	954	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	186					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						TCTCTGCTGTGACTGCAGGGC	0.373000														33			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221551	140221551	+	Silent	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140221551A>T	uc003lhs.2	+	0	645	c.645A>T	c.(643-645)acA>acT	p.T215T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.T215T	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCACAGATGGGGGCA	0.478000														53			19		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768087	60768087	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:60768087G>A	uc002jad.3	+	26	4379	c.3977G>A	c.(3976-3978)cGg>cAg	p.R1326Q	MRC2_uc002jae.3_Missense_Mutation_p.R397Q|MRC2_uc002jaf.3_Missense_Mutation_p.R192Q	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1326	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCCAGAGTCGGGGCGCCTGG	0.602000														64			10		0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942551	154942551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154942551G>A	uc001ffv.3	-	0	673	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SHC1_uc001ffw.3_Missense_Mutation_p.P151L|SHC1_uc001ffx.3_Missense_Mutation_p.P41L|SHC1_uc001ffy.3_Missense_Mutation_p.P41L|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	151					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGTCGTTGGGATGCAGCCA	0.637000														71			21		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431219	56431219	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:56431219G>A	uc010rjm.2	+	0	58	c.58G>A	c.(58-60)Gac>Aac	p.D20N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATCACCCAGGACCCTCAGAT	0.408000														78			22		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:5892008G>A	uc002kmx.1	-	0	96	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	19						integral to membrane		p.R19S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607000														21			8		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:18955510G>A	uc001mpg.3	-	0	1040	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000														44			20		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116719905	116719905	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:116719905G>A	uc001ppy.3	-	20	3468	c.3432C>T	c.(3430-3432)tcC>tcT	p.S1144S	SIK3_uc001ppz.3_Silent_p.S983S|SIK3_uc001pqa.3_Silent_p.S1084S|SIK3_uc001ppw.3_Silent_p.S501S|SIK3_uc001ppx.3_Silent_p.S522S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1144						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCTCATGGACGGAGGGGCGTG	0.597000														301			228		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899415	133899415	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:133899415G>A	uc003ytw.3	+	8	1839	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	600					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGATGTGATGGAAACGGTACT	0.473000														70			21		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44187426	44187426	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44187426C>T	uc003tkl.2	-	6	1156	c.686G>A	c.(685-687)gGc>gAc	p.G229D	GCK_uc003tkj.1_Missense_Mutation_p.G228D|GCK_uc003tkk.1_Missense_Mutation_p.G230D	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	229					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGCATTGCAGCCCGTGCCTGG	0.677000														190			68		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333457	220333457	+	Splice_Site	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220333457T>C	uc010fwg.3	+	11	3301	c.3301_splice	c.e11+1	p.G1101_splice		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1101	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGACTCATTTTGGTACGGCCC	0.662000														43			16		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45691514	45691514	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:45691514G>A	uc003bfy.3	+	5	805	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	UPK3A_uc010gzy.3_Missense_Mutation_p.G139R	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	260					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAAGTCGCTGGGGGCCTCGGA	0.612000														77			18		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653325	159653325	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159653325G>A	uc010kjv.3	+	10	1981	c.1781G>A	c.(1780-1782)aGg>aAg	p.R594K	FNDC1_uc010kjw.1_Missense_Mutation_p.R479K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	594						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGCCCCGAAGGGAAGGCGTA	0.701000														7			6		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099725	142099725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142099725G>A	uc003vyz.1	-	1	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.S26F					SubName: Full=Uncharacterized protein;																		GTACCTAGGGGACTGGGAGAC	0.463000														40			18		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463994	6463994	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6463994C>T	uc001qnw.3	-	5	1605	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	SCNN1A_uc001qnv.3_Silent_p.G88G|SCNN1A_uc001qnx.3_Silent_p.G388G|SCNN1A_uc010sfb.2_Silent_p.G411G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	388					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CATAATCGCCCCCAAGTCTGT	0.522000														85			29		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141785	133141785	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:133141785G>T	uc003ytj.3	-	14	2568	c.2343C>A	c.(2341-2343)agC>agA	p.S781R	KCNQ3_uc003yti.3_Missense_Mutation_p.S661R|KCNQ3_uc010mdt.3_Missense_Mutation_p.S769R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	781					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCGCGTGATGCTACGTCTCT	0.602000														33			10		1.36491e-13	1.387e-13	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13873722	13873722	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13873722C>T	uc002mxc.1	+	9	1248	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	344					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			ACTGAGACCCCCAAGTGCAGC	0.697000														18			12		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327809	52327809	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52327809G>A	uc002pxt.1	+	1	992	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR3_uc021uyq.1_Missense_Mutation_p.E270K	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	270					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGGCTCAAAGAGATGTTGTT	0.438000														42			27		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709786	52709786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52709786G>A	uc001saf.2	-	6	1216	c.1153C>T	c.(1153-1155)Caa>Taa	p.Q385*		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	385	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCATGTCTTGCTTGGCCTTC	0.647000														48			16		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030784	56030784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56030784G>A	uc010spq.2	+	0	109	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGTCTACCTGGTCACCTTGCT	0.572000														70			32		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155723145	155723145	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:155723145G>A	uc001flz.2	-	28	5789	c.5692C>T	c.(5692-5694)Cac>Tac	p.H1898Y	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.H1898Y|GON4L_uc009wrh.1_Missense_Mutation_p.H1898Y|GON4L_uc001fma.1_Missense_Mutation_p.H1898Y	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1898					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCTCTCGGTGGGGGCTGCTG	0.592000														107			49		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542052	46542052	+	Missense_Mutation	SNP	G	A	A	rs116177254	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46542052G>A	uc003cps.1	+	1	430	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	121					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGTGTTCCGAATTCTGAAG	0.443000														88			36		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153721217	153721217	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153721217C>T	uc009wom.3	+	6	791	c.570C>T	c.(568-570)atC>atT	p.I190I	INTS3_uc001fct.3_Silent_p.I190I|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR|INTS3_uc010peb.2_5'Flank|INTS3_uc001fcw.3_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	191					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCTGGATATCCTGACAGAGC	0.468000														124			47		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113590346	113590346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:113590346C>T	uc002tii.1	-	4	446	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	IL1B_uc002tih.1_Missense_Mutation_p.R89Q	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	120		Involved in receptor binding.			activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTTCAGTGATCGTACAGGTGC	0.473000														43			45		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128368934	128368934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:128368934G>A	uc003kuy.3	+	10	2215	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E607K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	607					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACTGACCAGGGAACTTTATGA	0.338000														17			7		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041756	14041756	+	Missense_Mutation	SNP	C	T	T	rs12928650		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:14041756C>T	uc002dce.2	+	10	2312	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	ERCC4_uc010uyz.1_Missense_Mutation_p.S318F	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	768	Interaction with EME1 and ERCC1.		S -> F (in dbSNP:rs12928650).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGCCTTTCTCTCTCACTTCC	0.493000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					73			28		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27412653	27412653	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:27412653G>A	uc001mrj.4	-	3	874	c.389C>T	c.(388-390)gCt>gTt	p.A130V	LGR4_uc001mrk.4_Missense_Mutation_p.A106V	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	130						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGACTGCAAAGCACTCAGCCC	0.383000														30			13		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071642	25071642	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:25071642G>A	uc001mqs.3	+	9	1098	c.824G>A	c.(823-825)gGa>gAa	p.G275E	LUZP2_uc009yif.3_Missense_Mutation_p.G189E|LUZP2_uc009yig.3_Missense_Mutation_p.G233E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	275						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACAAAGGAAGGAAATCCAAGT	0.368000														38			13		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637857	8637857	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:8637857C>T	uc002wnb.3	+	7	624	c.621C>T	c.(619-621)ttC>ttT	p.F207F	PLCB1_uc010zrb.1_Silent_p.F106F|PLCB1_uc002wna.3_Silent_p.F207F|PLCB1_uc002wnc.1_Silent_p.F106F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	207					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAGATTTCACTCCAGAAG	0.393000														42			33		0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117086949	117086949	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:117086949G>A	uc001egm.3	-	1	469	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Silent_p.F116F|CD58_uc001ego.1_Non-coding_Transcript|CD58_uc001egp.4_Silent_p.F116F	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	116					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CATAAAGAAAGAACTTCATGG	0.338000														35			13		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74526909	74526909	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:74526909G>A	uc002fcx.3	-	6	1230	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	GLG1_uc002fcw.4_Missense_Mutation_p.R383C|GLG1_uc002fcy.4_Missense_Mutation_p.R394C|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	394						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGGCTTCACGCGATCGCGGA	0.408000														14			18		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099414	133099414	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:133099414G>A	uc003epi.3	+	3	1129	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	TMEM108_uc003eph.3_Missense_Mutation_p.G287S|TMEM108_uc003epj.1_Missense_Mutation_p.G287S|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	287						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCCCAGGGGGGTGGTTCTAC	0.652000														25			10		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682915	30682915	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:30682915G>A	uc010gvs.2	-	2	793	c.395C>T	c.(394-396)cCa>cTa	p.P132L	TBC1D10A_uc003ahd.3_Silent_p.P176P|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Silent_p.P349P|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_Silent_p.P63P			Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCTCTGGATGGGATGCACCG	0.637000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			29		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929907	35929907	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:35929907A>G	uc001iyz.1	-	0	456	c.451T>C	c.(451-453)Tac>Cac	p.Y151H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	151	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGCGGTTGTAGTCCATGCAC	0.766000														6			4		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535652	69535652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:69535652C>T	uc021xow.1	-	0	843	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	229					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTCTTCAGATCATAAATTTGA	0.323000														99			45		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666856	77666856	+	Silent	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:77666856A>G	uc011bgk.2	+	22	4141	c.3498A>G	c.(3496-3498)caA>caG	p.Q1166Q	ROBO2_uc021xat.1_Silent_p.Q1178Q|ROBO2_uc003dpy.4_Silent_p.Q1162Q|ROBO2_uc003dpz.3_Silent_p.Q1166Q|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Silent_p.Q289Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1162					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAGATGCAACCCATGCTGC	0.483000														49			15		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731887	88731887	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:88731887G>A	uc003hqx.4	+	5	474	c.376G>A	c.(376-378)Ggg>Agg	p.G126R		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	126	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGGGTATACAGGGTTAGCTGC	0.408000														70			18		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100128015	100128015	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:100128015C>T	uc003yiv.3	+	6	961	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F	VPS13B_uc003yiw.3_Missense_Mutation_p.L284F|VPS13B_uc003yit.3_Missense_Mutation_p.L284F|VPS13B_uc003yiu.1_Missense_Mutation_p.L284F|VPS13B_uc003yis.3_Missense_Mutation_p.L284F|VPS13B_uc011lgy.2_Missense_Mutation_p.L160F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	284					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAATTGCTCTTTACTATGG	0.318000														50			15		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187247	123187247	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:123187247A>G	uc001ucx.1	-	0	658	c.584T>C	c.(583-585)cTg>cCg	p.L195P	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	195					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.L194L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAAGAACTCCAGGAGGAACAT	0.537000														62			26		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850706	167850706	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:167850706G>A	uc003lzu.3	+	10	1536	c.1443G>A	c.(1441-1443)gtG>gtA	p.V481V	WWC1_uc003lzv.3_Silent_p.V481V|WWC1_uc011den.2_Silent_p.V481V|WWC1_uc003lzw.3_Silent_p.V280V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	481					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAGCAAGGTGGAGTTCCTGC	0.617000														70			14		0	0	1	0	0
C3orf26	84319	broad.mit.edu	37	3	99886606	99886606	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:99886606G>A	uc003dtl.3	+	5	586	c.440G>A	c.(439-441)aGg>aAg	p.R147K	C3orf26_uc021xbt.1_Missense_Mutation_p.R129K	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	147							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						GTAAAACTTAGGAAGAACCAC	0.448000														92			39		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863112	55863112	+	Missense_Mutation	SNP	C	T	T	rs111636907	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55863112C>T	uc010spn.2	-	0	811	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACAGTTACTCCTTTGCTTAAA	0.383000														53			18		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5433822	5433822	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:5433822G>A	uc002gci.3	-	11	4054	c.3499C>T	c.(3499-3501)Cct>Tct	p.P1167S	NLRP1_uc002gcg.1_Missense_Mutation_p.P1171S|NLRP1_uc002gch.4_Missense_Mutation_p.P1167S|NLRP1_uc002gck.3_Missense_Mutation_p.P1167S|NLRP1_uc002gcj.3_Missense_Mutation_p.P1137S|NLRP1_uc002gcl.3_Missense_Mutation_p.P1137S|NLRP1_uc010clh.3_Missense_Mutation_p.P1167S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1167					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACAAAGTGAGGGAGGTGCACA	0.547000														36			5		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110560272	110560272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:110560272G>A	uc003kpf.3	+	0	326	c.91G>A	c.(91-93)Gat>Aat	p.D31N	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	31					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCTCGTCCCGGATTACTGGAT	0.677000														23			5		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538333	55538333	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55538333G>A	uc003xsd.1	+	3	2039	c.1891G>A	c.(1891-1893)Gct>Act	p.A631T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	631					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGGCTCCAGCTTCAGAAGC	0.358000														34			17		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6616888	6616888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:6616888G>A	uc003jdu.3	-	8	1354	c.973C>T	c.(973-975)Cct>Tct	p.P325S	NSUN2_uc003jdt.3_Missense_Mutation_p.P89S|NSUN2_uc011cmk.2_Missense_Mutation_p.P290S|NSUN2_uc003jdv.3_Missense_Mutation_p.P89S	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	325						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCTCAATAGGGTTTAGTGAA	0.458000														35			42		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954564	10954564	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10954564G>A	uc001qyv.3	-	0	663	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	202					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGATCAAGAGGAAAAAGGACA	0.502000														21			3		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86181124	86181124	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:86181124C>T	uc003pko.4	+	2	1288	c.732C>T	c.(730-732)tcC>tcT	p.S244S	NT5E_uc003pkn.3_Silent_p.S244S|NT5E_uc010kbr.3_Silent_p.S244S	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	244					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GAGGACACTCCAACACATTTC	0.428000														24			15		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38558073	38558073	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:38558073C>T	uc002yvz.3	+	36	4929	c.4824C>T	c.(4822-4824)atC>atT	p.I1608I	TTC3_uc002ywa.3_Silent_p.I1608I|TTC3_uc002ywb.3_Silent_p.I1608I|TTC3_uc010gnf.3_Silent_p.I1373I|TTC3_uc002ywc.3_Silent_p.I1298I|TTC3_uc002ywd.1_Silent_p.I672I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1608					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCCTTGAAATCAGGCAAATTA	0.279000														10			4		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81627142	81627142	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:81627142C>T	uc001szl.1	+	12	1702	c.1611C>T	c.(1609-1611)acC>acT	p.T537T	ACSS3_uc001szm.1_Silent_p.T536T|ACSS3_uc001szn.1_Silent_p.T219T	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	537						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTATGATACCATGGATGCTG	0.338000														84			29		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51920487	51920487	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:51920487C>T	uc003pah.1	-	18	2010	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G	PKHD1_uc003pai.3_Silent_p.G578G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	578					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGGCTCCGTCCCACTGGTGA	0.527000														36			9		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053784	120053784	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120053784C>A	uc004bjt.2	-	1	552	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	151						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTGCTGTGCCAGACATCTCT	0.597000														45			4		0.150653	0.150894	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1042114	1042114	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1042114C>T	uc002lqw.4	+	4	585	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Silent_p.A118A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	118					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCAGTGCCCACAGGACGC	0.721000														16			4		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011505	160011505	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:160011505C>T	uc001fuw.2	-	1	1058	c.818G>A	c.(817-819)gGt>gAt	p.G273D		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	273						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCACCCTCACCACTGCGAAG	0.537000														41			20		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48577174	48577174	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48577174G>A	uc003gyh.1	-	24	3411	c.2806C>T	c.(2806-2808)Ctt>Ttt	p.L936F	FRYL_uc003gyk.3_Missense_Mutation_p.L936F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	936					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCTAGAACAAGGGATTCTGTG	0.393000														44			16		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154513649	154513650	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:154513649_154513650AC>TT	uc010ipp.3	+	17	1887_1888	c.1835_1836AC>TT	c.(1834-1836)aac>aTT	p.N612I	KIAA0922_uc003inm.4_Missense_Mutation_p.N611I|KIAA0922_uc010ipq.3_Intron	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	611						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTGGTGCAGAACCCGTCCTCTT	0.505000														37			17		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453901	63453901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63453901C>T	uc001xfx.3	-	4	489	c.438G>A	c.(436-438)tgG>tgA	p.W146*	KCNH5_uc001xfy.3_Nonsense_Mutation_p.W146*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W88*|KCNH5_uc001xga.3_Nonsense_Mutation_p.W88*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	146					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.G145V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAATTTCGTCCAACCTTAAA	0.378000														37			20		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619283	71619283	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:71619283G>A	uc003xyq.3	+	3	922	c.388G>A	c.(388-390)Gat>Aat	p.D130N	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D130N	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	130						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGAGTGACTGATTTGAGCAT	0.388000														44			11		0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914465	45914465	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:45914465G>A	uc002ima.3	+	7	1308	c.945G>A	c.(943-945)acG>acA	p.T315T	LRRC46_uc002imb.3_Silent_p.T268T	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAAAACTACGGCCAAGAGAA	0.582000														65			20		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511109	104511109	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104511109G>A	uc003hxe.1	-	4	1269	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	376						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAACTTTGATGAAAGGACACC	0.443000														43			18		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856110	3856110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:3856110C>T	uc003zhx.1	-	8	3085	c.2372G>A	c.(2371-2373)aGa>aAa	p.R791K	GLIS3_uc010mhf.1_Missense_Mutation_p.R185K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.R636K|GLIS3_uc003zhy.1_Missense_Mutation_p.R569K	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	636					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCTGTGTTCTTTGCAGTAT	0.463000														48			15		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46321636	46321636	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:46321636G>A	uc021qil.1	+	1	688	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CREB3L1_uc021qik.1_Missense_Mutation_p.E85K	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	85					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A84A(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CATCCAGGCGGAGCACAGCTA	0.587000			T	FUS	myxofibrosarcoma									10			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974815	20974815	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:20974815C>A	uc010vbe.2	-	52	10391	c.10391G>T	c.(10390-10392)tGg>tTg	p.W3464L	DNAH3_uc010vbd.2_Missense_Mutation_p.W899L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3464					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGAACTTCCAAGACCCAGG	0.522000														47			13		0.000151284	0.000152336	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058301	9058301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9058301C>T	uc002mkp.3	-	2	29349	c.29145G>A	c.(29143-29145)tgG>tgA	p.W9715*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9717	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGCTCGTCCATGACAGAC	0.468000														30			14		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990578	70990578	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70990578G>A	uc021rvs.1	-	0	1047	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	ADAM20_uc001xme.3_Silent_p.F349F	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	299	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCTTTTATGAAAAGATGTG	0.353000														43			16		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:3387672C>T	uc001qlp.3	+	3	332	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_uc021qtd.1_Missense_Mutation_p.S50L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000														82			27		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54575842	54575842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:54575842C>T	uc002xxa.3	-	1	1138	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	118	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ACTGTAAATTCCTTTTCTTGG	0.348000														55			22		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436222	56436222	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:56436222G>A	uc003xsf.3	+	2	1421	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	463						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACTATTTTGTGATCCTTTTGG	0.468000														68			26		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911178	89911178	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:89911178C>T	uc001pdf.4	+	15	1860	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	NAALAD2_uc009yvx.3_Missense_Mutation_p.P551L|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	584					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAATCATTCCTTTTAATATT	0.338000														46			20		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6984370	6984370	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:6984370G>A	uc003zkh.3	+	9	1900	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	KDM4C_uc010mhu.2_Silent_p.V462V|KDM4C_uc011lmi.1_Silent_p.V440V|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Silent_p.V440V|KDM4C_uc011lmk.2_Silent_p.V259V|KDM4C_uc011lml.2_Silent_p.V127V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	440					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGATGCAGGTGGAGCAGAATT	0.418000														49			19		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153805	45153805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:45153805G>A	uc003com.3	-	2	560	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CDCP1_uc003con.3_Missense_Mutation_p.S142F	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	142						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCGAGGGATGGAAAACTGCAG	0.557000														146			47		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871640	65871640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:65871640C>T	uc001dce.1	+	15	2516	c.2315C>T	c.(2314-2316)cCc>cTc	p.P772L	DNAJC6_uc001dcd.1_Missense_Mutation_p.P715L|DNAJC6_uc010opc.1_Missense_Mutation_p.P702L	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	715					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AAGGCGTCTCCCCAGCCTATG	0.592000														37			21		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672717	10672717	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:10672717G>A	uc002kos.2	-	50	8150	c.7976C>T	c.(7975-7977)cCc>cTc	p.P2659L	PIEZO2_uc002koq.3_Missense_Mutation_p.P451L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2659						integral to membrane	ion channel activity										CAGACTTGGGGGACTGACTTT	0.458000														77			26		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915906	126915906	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126915906C>T	uc003eji.1	+	1	618	c.378C>T	c.(376-378)aaC>aaT	p.N126N						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGGCCCCCAACCTATTTCCTT	0.607000														127			49		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536145	90536145	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:90536145G>A	uc010mqi.3	+	3	1352	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	FAM75C1_uc004apq.4_Silent_p.L424L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGGAAAGACTGACATCCATTC	0.493000														77			29		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154802038	154802038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:154802038G>A	uc010hvr.1	+	1	293	c.82G>A	c.(82-84)Gag>Aag	p.E28K	MME_uc003fab.1_Missense_Mutation_p.E28K|MME_uc003fac.1_Missense_Mutation_p.E28K|MME_uc003fad.1_Missense_Mutation_p.E28K|MME_uc003fae.1_Missense_Mutation_p.E28K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	28					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GACTCCACTGGAGATCAGCCT	0.468000														73			24		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657228	143657228	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143657228C>T	uc003wds.1	+	0	209	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACAGCCGACTCCACACTCCCA	0.512000														150			62		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481221	179481221	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179481221C>T	uc021vsy.1	-	205	40818	c.40593G>A	c.(40591-40593)cgG>cgA	p.R13531R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R7226R|TTN_uc021vta.1_Silent_p.R7159R|TTN_uc021vtb.1_Silent_p.R7034R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14458	Ig-like 91.						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)			TCCATGTTTTCCGGCTGACTT	0.428000														69			71		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329946	8329946	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:8329946G>A	uc001qud.1	+	4	742	c.670G>A	c.(670-672)Gga>Aga	p.G224R	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AACTCACACGGGAGAGAGACC	0.418000														55			42		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39594361	39594361	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:39594361C>T	uc002hwq.1	-	5	1648	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	409	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCTCGCTTTCCAGAAGGTTC	0.547000														25			9		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247797	177247797	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:177247797C>T	uc001glf.3	+	6	1423	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	FAM5B_uc010pna.1_Missense_Mutation_p.R121C|FAM5B_uc001glg.3_Missense_Mutation_p.R266C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	371						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTTCAGCACCGCTACCAGCA	0.587000														124			49		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67390495	67390495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:67390495G>A	uc001dcx.3	-	0	76	c.20C>T	c.(19-21)tCc>tTc	p.S7F	WDR78_uc001dcy.3_Missense_Mutation_p.S7F|MIER1_uc001dda.4_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	7										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CGAGGCTCCGGAATGTTTGCC	0.697000														44			25		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	T	T	rs148650284		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9577542C>T	uc002mlp.1	-	9	2291	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000														83			36		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377862	113377862	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:113377862G>A	uc003eam.3	-	6	3078	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	KIAA2018_uc003eal.3_Silent_p.S833S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	889	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGGGTGGGCTGGACTTTTCTG	0.418000														86			30		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30722902	30722902	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30722902C>T	uc002dze.1	+	10	1714	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	SRCAP_uc021tgn.1_Silent_p.S443S|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.S300S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	443	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGAGCTTTCCATGGAGGAGC	0.493000														69			23		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860075	5860075	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:5860075G>A	uc001qnm.2	-	10	1177	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	374						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATGGGATGAGGAATGATGTA	0.333000														14			9		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806109	58806109	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58806109C>T	uc002qry.1	+	3	1065	c.935C>T	c.(934-936)cCc>cTc	p.P312L	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GGAGACAAGCCCTACAAGTGT	0.532000														39			13		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418267	42418267	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:42418267C>T	uc003bbt.3	+	4	515	c.421C>T	c.(421-423)Cca>Tca	p.P141S	WBP2NL_uc011apk.2_Missense_Mutation_p.P13S|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	141					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCGAGGATTTCCACTTAGAAC	0.373000														48			23		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29599253	29599253	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29599253T>C	uc003nmt.4	-	2	545	c.209A>G	c.(208-210)gAg>gGg	p.E70G	GABBR1_uc003nmu.4_Missense_Mutation_p.E70G|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Missense_Mutation_p.E70G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632000														110			20		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56996359	56996359	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:56996359G>A	uc002adu.3	-	3	352	c.135C>T	c.(133-135)atC>atT	p.I45I	ZNF280D_uc002adv.3_Silent_p.I32I|ZNF280D_uc010bfq.3_Silent_p.I45I|ZNF280D_uc002adw.1_Silent_p.I73I|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Silent_p.I45I|ZNF280D_uc002adx.3_Silent_p.I45I	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGCCAACAAAGATTGGCTCAT	0.358000														12			9		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466945	56466945	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56466945C>T	uc002qmh.3	+	2	1592	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	NLRP8_uc010etg.3_Silent_p.L507L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	507	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTTACCCTCGTGACTTTTC	0.463000														112			35		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227656	39227656	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:39227656C>T	uc003cjk.2	-	1	3510	c.3281G>A	c.(3280-3282)cGg>cAg	p.R1094Q	XIRP1_uc003cji.3_Missense_Mutation_p.R1094Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1094Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1094							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCTTTCCGAAGACCGTC	0.592000														70			24		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993649	45993650	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45993649_45993650CC>TT	uc002zfk.1	+	0	44_45	c.14_15CC>TT	c.(13-15)tcc>tTT	p.S5F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	5						keratin filament		p.C4Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCGTCTGCTCCAGCGACCTGA	0.644000														43			25		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521133	23521133	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:23521133G>A	uc003jgo.3	+	6	534	c.352_splice	c.e6-1	p.G118_splice		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	118					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACATTAAAGGGAATGCCCAAG	0.373000										HNSCC(3;0.000094)				15			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874420	36874420	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:36874420G>T	uc003cgj.3	-	20	6770	c.6522C>A	c.(6520-6522)gcC>gcA	p.A2174A		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2174					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAAACACTTGGCTTCACAAC	0.423000														13			6		0.00116845	0.00117468	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4673854	4673854	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4673854C>A	uc021qcq.1	+	0	98	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	OR51E1_uc001lzi.4_Missense_Mutation_p.P33Q	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCCTTCCCATTGTGCTCC	0.463000														70			34		1.58521e-26	1.61609e-26	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63174573G>A	uc001xfx.3	-	10	2671	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000														74			20		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632084	156632084	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:156632084C>T	uc003iov.3	+	6	1303	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GUCY1A3_uc003iou.2_Missense_Mutation_p.S256F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S256F|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S255F|GUCY1A3_uc003iow.3_Missense_Mutation_p.S256F|GUCY1A3_uc003iox.3_Missense_Mutation_p.S256F|GUCY1A3_uc010iqe.3_Missense_Mutation_p.S21F|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S256F|GUCY1A3_uc003ioz.3_Missense_Mutation_p.S21F|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S256F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTGTTGTACTCCGTTCACATG	0.483000														68			23		0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183547402	183547402	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:183547402C>T	uc003fmd.3	-	9	1183	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	PARL_uc003fme.3_Missense_Mutation_p.G325E	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGAGCCACCTCCTTTTTTGGG	0.493000														152			49		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75960883	75960883	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:75960883G>A	uc003kek.3	+	21	2784	c.2562G>A	c.(2560-2562)aaG>aaA	p.K854K	IQGAP2_uc010izv.2_Silent_p.K407K|IQGAP2_uc011csv.2_Silent_p.K350K|IQGAP2_uc003kel.3_Silent_p.K350K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	854					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCTGAACAAGAAAAAAGGAG	0.328000														21			7		0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48338250	48338250	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:48338250C>T	uc003cso.3	-	2	230	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NME6_uc011bbh.2_Missense_Mutation_p.E54K|NME6_uc010hju.3_Intron|NME6_uc003csp.4_Missense_Mutation_p.E54K|NME6_uc011bbi.2_Missense_Mutation_p.E54K	NM_005793	NP_005784	O75414	NDK6_HUMAN	Homo sapiens non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) (NME6), mRNA.	54					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|apoptosis|negative regulation of cell growth|negative regulation of mitosis	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGGCAATCTTCCTTTCTCCAC	0.428000														38			14		0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179268988	179268988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:179268988G>A	uc003mla.3	-	4	412	c.368C>T	c.(367-369)aCa>aTa	p.T123I	C5orf45_uc003mky.2_Missense_Mutation_p.T120I|C5orf45_uc011dgt.1_Missense_Mutation_p.T123I|C5orf45_uc011dgu.1_Missense_Mutation_p.T68I|C5orf45_uc003mlc.3_Missense_Mutation_p.T68I|C5orf45_uc003mlb.3_5'UTR|C5orf45_uc021yjh.1_5'Flank	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	123								p.G122*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ACACACTCCTGTTCCTTCCAG	0.502000														209			80		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193751	7193751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7193751G>A	uc002gfq.2	-	4	620	c.563C>T	c.(562-564)cCc>cTc	p.P188L		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	188	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGCAACTGAGGGAGGCCGGGG	0.652000														66			27		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546080	178546080	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:178546080C>T	uc003fjd.3	+	3	685	c.342C>T	c.(340-342)ctC>ctT	p.L114L	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.L114L|KCNMB2_uc003fjf.3_Silent_p.L114L|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	114					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACCCCTGCCTCCAGGTGTACG	0.478000														50			18		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77343254	77343254	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:77343254C>T	uc004ajl.1	-	37	6074	c.5836G>A	c.(5836-5838)Gga>Aga	p.G1946R	TRPM6_uc004ajk.1_Missense_Mutation_p.G1941R|TRPM6_uc022bib.1_Missense_Mutation_p.G1941R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G897R|TRPM6_uc010mpd.1_Missense_Mutation_p.G779R|TRPM6_uc010mpe.1_Missense_Mutation_p.G493R|TRPM6_uc004ajj.1_Missense_Mutation_p.G902R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1946	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AACACCATTCCTCTTGATCTA	0.428000														28			10		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124458859	124458859	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:124458859C>T	uc001lgn.3	-	1	278	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	82										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTACTAGGATCTCTTTTTCCA	0.488000														29			17		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815730	23815730	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:23815730C>T	uc003gqs.3	-	7	1496	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	459					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGCTCGGCTCGGATTTCCTG	0.502000														41			23		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61006804	61006804	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:61006804C>T	uc002sai.3	+	8	976	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR|PAPOLG_uc010fch.3_5'Flank	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	243					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GCTAGGATTCCTTGGTGGTGT	0.348000														50			18		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847345	46847345	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:46847345C>T	uc021tzm.1	-	13	2190	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	TTLL6_uc002iob.3_Missense_Mutation_p.D412N|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.D472N|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	671						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCACCCTGTCCGTCTCTGGG	0.507000														69			18		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870329	35870329	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35870329C>T	uc011lph.2	-	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGATGCTCCAGGGCTGGG	0.557000														32			9		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132728	57132728	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57132728C>T	uc002qnm.4	+	2	311	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	ZNF71_uc021vcg.1_Missense_Mutation_p.P25S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	25						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CACGGGGGGACCCACGAGGAA	0.582000														39			13		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761629	96761629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:96761629G>A	uc003htr.4	+	0	391	c.328G>A	c.(328-330)Gat>Aat	p.D110N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	110					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAACCCCTCGGATCACGTCAT	0.522000														73			29		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123630908	123630908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:123630908C>T	uc010nqy.3	-	19	3717	c.3653G>A	c.(3652-3654)aGa>aAa	p.R1218K	ODZ1_uc011muj.2_Missense_Mutation_p.R1217K|ODZ1_uc004euj.3_Missense_Mutation_p.R1218K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1218					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.V1218I(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGGAAATATTCTCCTTACAAA	0.413000														16			14		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062652	73062652	+	RNA	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73062652G>A	uc004ebm.1	-	0		c.9937C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGGCAGAGGGAAGGGAAGAG	0.483000														15			22		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355778	41355778	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:41355778C>T	uc002opl.4	-	1	309	c.288G>A	c.(286-288)gaG>gaA	p.E96E	CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	96					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGCTGAACTCCTCAGCCTGGT	0.642000														53			14		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135609	114135609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:114135609C>T	uc004bfe.1	-	40	4789	c.4789G>A	c.(4789-4791)Ggc>Agc	p.G1597S		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACTAAATGGCCCATAGCAAAT	0.358000														85			30		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961740	10961740	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10961740G>A	uc001qyx.3	-	0	1028	c.935C>T	c.(934-936)cCa>cTa	p.P312L	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	312					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGTCTCTATGGAACAAAAGG	0.353000														28			14		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040924	72040924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:72040924G>A	uc002atb.1	+	12	2485	c.2406G>A	c.(2404-2406)tgG>tgA	p.W802*	THSD4_uc002ate.2_Nonsense_Mutation_p.W442*	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	802	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCACCGAGTGGAGCGAAAGGG	0.567000														15			4		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220160504	220160504	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:220160504C>T	uc001hly.1	-	19	3288	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Silent_p.Q757Q|EPRS_uc001hlz.1_Silent_p.Q1013Q	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1006					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTTAGGCCCCTGCCCTTCTC	0.393000														101			22		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959761	157959761	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:157959761G>A	uc003wno.3	-	5	893	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	PTPRN2_uc003wnp.3_Missense_Mutation_p.P241S|PTPRN2_uc003wnq.3_Missense_Mutation_p.P258S|PTPRN2_uc003wnr.3_Missense_Mutation_p.P220S|PTPRN2_uc011kwa.2_Missense_Mutation_p.P281S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	258						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P257L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCCTCCCCGGGGGGAGCTGGG	0.657000														15			5		0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68772911	68772911	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:68772911G>A	uc001ooo.4	-	2	1234	c.867C>T	c.(865-867)atC>atT	p.I289I	MRGPRF_uc001oop.4_Silent_p.I289I	NM_001098515	NP_659452	Q96AM1	MRGRF_HUMAN	Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA.	289						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAAGTAGACGATGGGCTTGG	0.662000														7			4		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030289	44030289	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44030289C>T	uc002lcb.1	+	4	697	c.646C>T	c.(646-648)Cct>Tct	p.P216S	RNF165_uc002lby.1_Missense_Mutation_p.P149S|RNF165_uc010dnn.1_Missense_Mutation_p.P12S	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	216							zinc ion binding	p.P216R(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTACCCTTACCCTCAGCTTCA	0.512000														49			22		0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034609	220034609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220034609G>A	uc010zkr.2	-	0	209	c.98C>T	c.(97-99)aCc>aTc	p.T33I	NHEJ1_uc002vjq.4_Non-coding_Transcript|SLC23A3_uc010zks.2_Missense_Mutation_p.T33I|SLC23A3_uc010fwb.3_Missense_Mutation_p.T33I|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 3 (SLC23A3), transcript variant 3, mRNA.	33					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAGAGTGGGTGGAGGGATT	0.622000														42			62		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278618	44278618	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44278618A>T	uc002oxl.3	-	2	805	c.409T>A	c.(409-411)Tcc>Acc	p.S137T		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGCTGCGGGGAGGTCAGCGGC	0.736000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378207	18378207	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:18378207T>A	uc010ebn.2	-	2	359	c.143A>T	c.(142-144)gAg>gTg	p.E48V	KIAA1683_uc002nin.2_Missense_Mutation_p.E48V|KIAA1683_uc010xqe.1_Missense_Mutation_p.E2V	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	48						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCGCTTTCTCCATTTTGTC	0.652000														97			52		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142178084	142178084	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:142178084G>A	uc003eux.4	-	42	7456	c.7334C>T	c.(7333-7335)cCt>cTt	p.P2445L	ATR_uc003euy.1_Missense_Mutation_p.P331L	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2445	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTAGGATCAGGGAATGTTCT	0.343000								Other conserved DNA damage response genes						21			7		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814475	106814475	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:106814475C>T	uc003ymd.3	+	7	2188	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	ZFPM2_uc011lhs.2_Missense_Mutation_p.A453V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	722					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAGGTCTGCTTCCAACAAA	0.517000														19			6		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117063403	117063404	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:117063403_117063404CC>TT	uc011lxl.2	+	51	4753_4754	c.4753_4754CC>TT	c.(4753-4755)ccg>TTg	p.P1585L	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1585	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCGGGACTCCCGGTATGTGTG	0.584000														50			17		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23385559	23385559	+	Splice_Site	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:23385559G>A	uc003swg.3	-	8	1207	c.941_splice	c.e8+1	p.P314_splice	IGF2BP3_uc003swf.3_Splice_Site	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	314	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGCACTCACGGAGATATCGT	0.373000														47			14		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746743	90746743	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:90746743C>T	uc011lti.2	-	3	1238	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	403																	CTAGTTGTTTCTTCAACAAAG	0.498000														179			61		0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139650977	139650977	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:139650977G>A	uc004cjb.1	-	2	572	c.223C>T	c.(223-225)Cct>Tct	p.P75S	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.P75S	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	98					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CACTTACCAGGAAAAGCGAAT	0.522000														83			32		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242341	126242341	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126242341C>T	uc003ifj.4	+	0	4775	c.4775C>T	c.(4774-4776)cCt>cTt	p.P1592L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1592	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCGTTGGTGCCTTCACAGTTG	0.453000														88			37		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	177309	177309	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:177309C>T	uc002fre.2	-	2	369	c.26G>A	c.(25-27)gGg>gAg	p.G9E	RPH3AL_uc010vpy.2_Missense_Mutation_p.G9E|RPH3AL_uc021tmx.1_Missense_Mutation_p.G9E|RPH3AL_uc002frf.2_Missense_Mutation_p.G9E|RPH3AL_uc010cjl.2_Missense_Mutation_p.G9E	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	9					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTGATCATTCCCGCTGCCGAA	0.617000														27			13		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153511	139153511	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:139153511G>A	uc003yuy.3	-	16	3891	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L	FAM135B_uc003yux.3_Silent_p.L1141L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1240										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAACGTGTGGAGTTTGTTGA	0.522000										HNSCC(54;0.14)				58			31		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480106	10480106	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:10480106T>G	uc003wtc.3	-	1	835	c.606A>C	c.(604-606)aaA>aaC	p.K202N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	202					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCCTACCTTTTTCCCGCTGG	0.483000														131			50		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694261	112694261	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:112694261G>A	uc004bei.2	+	5	641	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.R150Q|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R150Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R150Q|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCTGTTCACGAACAGCAGAA	0.537000														87			38		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:28543161C>T	uc003nlo.3	-	2	1939	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000														47			19		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040926	80040926	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:80040926G>A	uc002kdu.3	-	32	5748	c.5631C>T	c.(5629-5631)tcC>tcT	p.S1877S	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1877	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGAAGGTCTTGGAGATGGCCG	0.642000														36			32		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56170920	56170921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:56170920_56170921CC>TT	uc003jqw.4	+	9	2249_2250	c.1748_1749CC>TT	c.(1747-1749)gcc>gTT	p.A583V		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	583					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAGAGATGGCCCTCAGGCGTC	0.500000														71			31		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17393774	17393774	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17393774C>T	uc010xpn.1	+	3	699	c.585C>T	c.(583-585)atC>atT	p.I195I	BABAM1_uc010ean.2_Non-coding_Transcript|ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.I141I|ANKLE1_uc010eao.1_Silent_p.I163I|ANKLE1_uc002nfy.2_Silent_p.I130I|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	141						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGACCCGGATCGGGGCAGAGA	0.687000											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179549115	179549115	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179549115G>A	uc021vsy.1	-	128	29157	c.28932C>T	c.(28930-28932)acC>acT	p.T9644T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T6305T|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10571							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)			TTTCTTCCTGGGTAATTTGCA	0.388000														26			22		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759425	121759425	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:121759425C>T	uc003ksw.1	+	3	1199	c.993C>T	c.(991-993)atC>atT	p.I331I	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.I331I|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.I378I|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.I331I	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	331					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGGACAGATCTCTCTCCTGG	0.403000														47			10		0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39067154	39067154	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39067154C>T	uc003awb.3	+	4	540	c.264C>T	c.(262-264)aaC>aaT	p.N88N	CBY1_uc011any.1_3'UTR|CBY1_uc003awc.3_Silent_p.N88N|BC036921_uc003awd.3_Non-coding_Transcript	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	88	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGGAAGAGAACAATCTCTTGC	0.572000														90			28		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535541	90535541	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:90535541C>T	uc010mqi.3	+	3	748	c.719C>T	c.(718-720)cCc>cTc	p.P240L	FAM75C1_uc004apq.4_Missense_Mutation_p.P223L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		ACTCCTCCTCCCCTGCGGGAC	0.602000														102			46		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053562	176053562	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176053562G>A	uc010jke.1	-	1	716	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCAGGGGGAAACACCGAT	0.632000														22			8		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873375	173873375	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:173873375C>T	uc003isv.3	+	9	2073	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	446						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAATACTACCCTCCAGTGGAG	0.602000														12			10		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														12			7		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764464	155764464	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:155764464G>A	uc003qqm.3	-	4	532	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	143	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGCCCAGCTTGGAAAGTGCGG	0.572000														43			13		0	0	1	0	0
MIR520A	574467	broad.mit.edu	37	19	54194197	54194197	+	RNA	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54194197C>T	uc021uzs.1	+	0		c.63C>T								Homo sapiens microRNA 520a (MIR520A), microRNA.																		AAAGTGCTTCCCTTTGGACTG	0.453000														72			21		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255279	77255279	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:77255279C>T	uc003hkb.4	-	17	2859	c.2706G>A	c.(2704-2706)agG>agA	p.R902R		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	902										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTTTCAGGTCCCTTGTTGGAT	0.413000														58			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084542	9084542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9084542C>T	uc002mkp.3	-	0	7477	c.7273G>A	c.(7273-7275)Gcc>Acc	p.A2425T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2425	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A2425T(3)		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						GGAGAGGTGGCTGTATTTGTC	0.502000														25			11		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	403156	403156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:403156C>T	uc021qbk.1	+	9	1890	c.1861C>T	c.(1861-1863)Cag>Tag	p.Q621*	PKP3_uc001lpc.3_Nonsense_Mutation_p.Q606*	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	606					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGCCCCCAGATCGTGGG	0.716000														5			5		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276146	42276146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:42276146C>T	uc021sjp.1	-	19	2413	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	PLA2G4E_uc010udc.2_Missense_Mutation_p.E248K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E429K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	793	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCTGCTCCAGCTCCTCA	0.517000														19			3		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43236939	43236939	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43236939G>A	uc002oue.3	-	2	838	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	236					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACGGAGGAGATTCAGG	0.537000														197			68		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177414	39177414	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:39177414G>A	uc004abi.3	-	5	1067	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CNTNAP3_uc004abj.3_Silent_p.L276L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.L276L|CNTNAP3_uc011lqs.1_Silent_p.L276L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	276	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAGCTCGATGAGGACGGAAT	0.517000														38			18		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76423412	76423412	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:76423412C>T	uc021rkq.1	+	26	4683	c.4348C>T	c.(4348-4350)Cct>Tct	p.P1450S	LMO7_uc010thv.2_Missense_Mutation_p.P1168S|LMO7_uc001vjv.3_Missense_Mutation_p.P1217S|LMO7_uc010thw.2_Missense_Mutation_p.P1094S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1502						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGTTAGTCTTCCTGGGATCAT	0.453000														35			12		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262141	45262141	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:45262141G>A	uc003jok.3	-	7	2580	c.2555C>T	c.(2554-2556)cCg>cTg	p.P852L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	852						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P852P(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCTCGGTTCGGGGGGATGGC	0.637000														73			34		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47407554	47407554	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:47407554G>A	uc002zhu.1	+	7	892	c.790G>A	c.(790-792)Gac>Aac	p.D264N		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	264	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTCCGGGGCGACCCCGGCTT	0.687000														33			23		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281234	142281234	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:142281234A>T	uc003eux.4	-	3	1132	c.1010T>A	c.(1009-1011)cTt>cAt	p.L337H		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	337					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.R336W(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATCAGACTTAAGCCGCATGAG	0.403000								Other conserved DNA damage response genes						47			19		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087479	47087479	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:47087479C>T	uc001jee.3	+	2	1115	c.696C>T	c.(694-696)gtC>gtT	p.V232V	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.V232V|PPYR1_uc021ppu.1_Silent_p.V232V	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	232					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCATCCTGGTCTGTTATGCAC	0.602000														122			23		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887625	3887625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:3887625C>T	uc003bpt.4	+	1	2061	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.R434C	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	434	Ig-like C2-type.					integral to membrane		p.R434H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTCCCAAATCGTTTAAACGT	0.478000														61			22		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29685510	29685510	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29685510G>A	uc002hgg.3	+	54	8366	c.7983G>A	c.(7981-7983)ttG>ttA	p.L2661L	NF1_uc002hgh.3_Silent_p.L2640L|NF1_uc010cso.3_Silent_p.L849L|NF1_uc010wbt.1_Silent_p.L139L|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2661					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAATTTGTTGGACTCTAAGA	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				31			8		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687219	181687219	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:181687219C>T	uc009wxt.3	+	11	1749	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	CACNA1E_uc001gow.3_Silent_p.L518L|CACNA1E_uc009wxs.3_Silent_p.L518L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	518					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCTGGGACTCTTCCTCTTGG	0.468000														21			8		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156278136	156278136	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:156278136C>A	uc003lwf.1	+	0	588	c.563C>A	c.(562-564)tCa>tAa	p.S188*						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		ACGGAAGAATCAAATCAAGGA	0.348000														87			4		0.184627	0.184824	1	1	0
IKBKE	9641	broad.mit.edu	37	1	206651675	206651675	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206651675C>T	uc001hdz.2	+	8	1563	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	IKBKE_uc001hea.2_Missense_Mutation_p.H244Y|IKBKE_uc009xbv.2_Missense_Mutation_p.H329Y	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	329					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TATCCATGCCCACAACACGTA	0.562000														124			42		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32410715	32410715	+	Silent	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:32410715G>T	uc001mtn.2	-	9	1633	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	WT1_uc001mtl.2_Silent_p.P266P|WT1_uc001mtm.2_Silent_p.P252P|WT1_uc001mto.2_Silent_p.P478P|WT1_uc001mtq.2_Silent_p.P461P|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	413					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GACAGCTGAAGGGCTTTTCAC	0.483000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					59			15		1.2644e-06	1.2766e-06	1	1	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237103	22237103	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22237103G>A	uc001wbt.1	+	1	187	c.180G>A	c.(178-180)ctG>ctA	p.L60L	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		CGGCCACCCTGACCTGCAACT	0.468000														24			5		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239121	45239121	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:45239121G>A	uc002xsf.2	-	2	545	c.505C>T	c.(505-507)Cga>Tga	p.R169*	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.R138*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.R71*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.R169*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.R122*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.R122*|SLC13A3_uc002xsi.4_Nonsense_Mutation_p.R122*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	169						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGTCCTTTCGAACCTCCTTC	0.542000														169			129		0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587827	128587827	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:128587827C>T	uc003voh.3	+	6	905	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	IRF5_uc003vog.3_Missense_Mutation_p.R278W|IRF5_uc010llt.3_Missense_Mutation_p.R176W|IRF5_uc003voi.3_Missense_Mutation_p.R262W|IRF5_uc003voj.4_Missense_Mutation_p.R262W|IRF5_uc010llw.1_3'UTR	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	262					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCGGCCACCCCGGGCCCTCAC	0.657000														10			7		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587027	42587027	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:42587027A>T	uc003xpi.1	+	4	705	c.577A>T	c.(577-579)Aaa>Taa	p.K193*		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	193					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R192I(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTCGACAGAAAAGACTTCTT	0.458000														49			35		0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116085403	116085403	+	Silent	SNP	G	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:116085403G>A	uc004bhe.3	-	5	662	c.357C>T	c.(355-357)ttC>ttT	p.F119F	WDR31_uc004bhc.3_Silent_p.F118F|WDR31_uc004bhd.3_5'UTR|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	119										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GAGAGGCACTGAAGAACTGGC	0.498000														35			15		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:21730847G>T	uc002gyy.3	+	1	274	c.149G>T	c.(148-150)cGg>cTg	p.R50L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	202	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCAAGCAGCGGGAAGATGGC	0.522000														25			3		6.4e-05	6.44791e-05	1	1	0
D2HGDH	728294	broad.mit.edu	37	2	242683189	242683189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:242683189C>T	uc002wce.1	+	4	816	c.643C>T	c.(643-645)Cga>Tga	p.R215*	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Nonsense_Mutation_p.R81*|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	215	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCGGTTTCTTCGATATGGCTC	0.627000														18			4		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819858	43819858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43819858C>T	uc001zrt.3	+	3	6654	c.6187C>T	c.(6187-6189)Ccc>Tcc	p.P2063S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2063						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCTGCAGTTCCCCCCCGTGC	0.617000														26			5		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021274	32021274	+	Silent	SNP	C	T	T	rs56407830		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32021274C>T	uc003nzl.2	-	24	8878	c.8676G>A	c.(8674-8676)gaG>gaA	p.E2892E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2941	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGACCCCGTCCTCGTGCCCCG	0.637000														633			149		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85562059	85562059	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:85562059C>T	uc011ccv.2	+	9	1446	c.948C>T	c.(946-948)tcC>tcT	p.S316S	CDS1_uc010ike.1_Silent_p.S120S	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	316					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGTAAACTCCTTCGTGACAG	0.403000														90			28		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561409	142561410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142561409_142561410GG>AA	uc011kst.2	+	5	908_909	c.121_122GG>AA	c.(121-123)gga>AAa	p.G41K	EPHB6_uc011ksu.2_Missense_Mutation_p.G41K|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATCT	0.599000														64			9		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21442841	21442841	+	Splice_Site	SNP	C	A	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:21442841C>A	uc001unq.4	-	2	106	c.70_splice	c.e2-1	p.A24_splice	XPO4_uc010tcr.1_Intron	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	24					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAGGTGGTGCCTTGAGAGTTA	0.353000														37			18		7.41877e-09	7.51046e-09	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21804670	21804670	+	Silent	SNP	C	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:21804670C>T	uc001ber.3	+	8	1376	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	NBPF3_uc001bes.3_Silent_p.P286P|NBPF3_uc009vqb.3_Silent_p.P367P|NBPF3_uc010odm.2_Silent_p.P272P	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	342	NBPF 2.					cytoplasm		p.A341>?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGCCCCCCAGGAGTCCT	0.502000														103			34		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874816	874817	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:874816_874817insT	uc001abw.1	+	6	762_763	c.682_683insT	c.(682-684)cccfs	p.P228fs	SAMD11_uc001abx.1_Intron	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	228						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGGCATGATCCCCCTCATCAC	0.644													---	21	---	---	7	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	2	---	---	4	---					
CENPE	1062	broad.mit.edu	37	4	104061189	104061189	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104061189delT	uc003hxb.1	-	37	6051	c.5961delA	c.(5959-5961)gaafs	p.E1987fs	CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1987					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TATTGACATCTTCTTTCACTC	0.328													---	28	---	---	11	---					
ZNF777	27153	broad.mit.edu	37	7	149152619	149152620	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:149152619_149152620delAG	uc003wfv.3	-	1	657_658	c.494_495delCT	c.(493-495)cctfs	p.P165fs		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGATCTGGAAAGGGGTGTCCTT	0.604													---	140	---	---	47	---					
UBXN1	51035	broad.mit.edu	37	11	62445468	62445468	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62445468delA	uc001nuj.3	-	4	545	c.413delT	c.(412-414)ctafs	p.L138fs	UBXN1_uc001nul.2_Frame_Shift_Del_p.L138fs|UBXN1_uc001nuk.3_Frame_Shift_Del_p.L103fs|UBXN1_uc010rme.1_Frame_Shift_Del_p.L138fs|UBXN1_uc010rmf.2_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	138	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						ATCTTCCTGTAGCCGCTGTCG	0.597													---	38	---	---	16	---					
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	Splice_Site	DEL	AGA	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:100340123_100340125delAGA	uc010bow.2	-	4		c.699_splice	c.e4+1		DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript|DQ571121_uc021sxm.1_5'Flank|DQ590616_uc002bvp.3_5'Flank|DNM1P46_uc021sxn.1_Non-coding_Transcript|DNM1P46_uc010urz.1_Non-coding_Transcript|DQ595494_uc021sxo.1_Non-coding_Transcript|DQ575741_uc002bvt.1_5'Flank					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		AGCAGCTCCGAGAAGATGAACTC	0.611													---	25	---	---	7	---					
NCAM2	4685	broad.mit.edu	37	21	22910226	22910226	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:22910226delT	uc002yld.2	+	17	2711	c.2462delT	c.(2461-2463)attfs	p.I821fs	NCAM2_uc011acb.2_Frame_Shift_Del_p.I679fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	821					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACTATAGAAATTAAAGTTTCT	0.323													---	64	---	---	19	---					
SMS	6611	broad.mit.edu	37	X	21995186	21995186	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:21995186delC	uc004dag.3	+	4	565	c.337delC	c.(337-339)cccfs	p.P113fs	SMS_uc011mjq.2_Frame_Shift_Del_p.P17fs	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	113					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGATTACCACCCATAGTGCG	0.473													---	18	---	---	10	---