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
RIMS4	140730	broad.mit.edu	37	20	43385563	43385563	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:43385563C>T	uc010ggu.3	-	4	637	c.570G>A	c.(568-570)gaG>gaA	p.E190E	RIMS4_uc002xms.3_Silent_p.E189E	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	189	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGGGGACTCTCAGGAAACA	0.557000														271			230		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30124759	30124759	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30124759G>A	uc003npo.3	-	4	928	c.852C>T	c.(850-852)ccC>ccT	p.P284P	TRIM10_uc003npn.2_Silent_p.P284P	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	284						cytoplasm	zinc ion binding			ovary(1)	1						GGGCCTGCTGGGGAAAGTCCC	0.597000														75			41		0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721471	9721471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9721471G>A	uc002mlu.3	-	5	1071	c.866C>T	c.(865-867)tCc>tTc	p.S289F	ZNF561_uc010dwu.3_Missense_Mutation_p.S220F|ZNF561_uc010xkr.2_Missense_Mutation_p.S153F	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						ATTTCTAAAGGATCTTCCACA	0.358000														35			22		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10613143	10613143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10613143C>T	uc010rcc.1	-	17	2578	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.G723E|MRVI1_uc001miw.2_Missense_Mutation_p.G722E|MRVI1_uc001mix.3_Missense_Mutation_p.G416E|MRVI1_uc001miz.2_Missense_Mutation_p.G640E|MRVI1_uc010rcd.1_Missense_Mutation_p.G525E|MRVI1_uc009ygd.1_Missense_Mutation_p.G416E|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	704					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTGCCTTTCCCATTGGGTGA	0.473000														2			2		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614950	247614950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:247614950C>T	uc010pyx.2	-	0	335	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCCGTGCATCCCAGCCAGTG	0.592000														33			43		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640232	176640232	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:176640232G>C	uc001gkz.3	+	3	3282	c.2118G>C	c.(2116-2118)aaG>aaC	p.K706N	PAPPA2_uc001gky.1_Missense_Mutation_p.K706N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	706	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGGGACAAGGACGCTGTCA	0.498000														21			10		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79419781	79419781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79419781G>A	uc002kaf.2	+	12	4163	c.4163G>A	c.(4162-4164)cGg>cAg	p.R1388Q	BAHCC1_uc002kae.2_Missense_Mutation_p.R680Q|MIR3186_uc021ufa.1_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1450							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)			CCTGCACGGCGGGGGCCTGGC	0.677000														7			5		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20466008	20466008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:20466008G>A	uc009vpp.1	+	0	186	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	0					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G30V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCACGCTTCGGGGCCTCCTG	0.602000														4			4		0	0	1	0	0
POLD4	57804	broad.mit.edu	37	11	67120853	67120853	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:67120853G>A	uc001okm.3	-	0	200	c.18C>T	c.(16-18)ctC>ctT	p.L6L	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.	6					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			AATCAGTGATGAGCCGCTTCC	0.662000														37			18		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781893	128781894	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:128781893_128781894GG>AA	uc001qet.3	+	1	1039_1040	c.725_726GG>AA	c.(724-726)cgg>cAA	p.R242Q	KCNJ5_uc009zck.3_Missense_Mutation_p.R242Q|KCNJ5_uc001qew.3_Missense_Mutation_p.R242Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	242					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATCAAGTCCCGGCAGACCAAAG	0.609000														8			52		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081970	6081970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:6081970C>T	uc010idb.1	-	6	1657	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	JAKMIP1_uc010idc.1_Missense_Mutation_p.D226N|JAKMIP1_uc010idd.1_Missense_Mutation_p.D391N|JAKMIP1_uc003giu.4_Missense_Mutation_p.D391N|JAKMIP1_uc011bwc.2_Missense_Mutation_p.D226N|JAKMIP1_uc003giv.4_Missense_Mutation_p.D391N|JAKMIP1_uc010ide.3_Missense_Mutation_p.D391N	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	391	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGCTCATCCCTCGTCAGG	0.592000														33			8		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101544502	101544502	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:101544502G>A	uc001kqf.2	+	1	310	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	57						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAGGACCAAGAGATCCTCTA	0.468000														30			32		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078975	22078975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:22078975G>A	uc003xbk.4	-	5	1578	c.884C>T	c.(883-885)tCc>tTc	p.S295F	PHYHIP_uc003xbj.4_Missense_Mutation_p.S295F	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	295										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTGCCCAGGGACAGGTCGAC	0.607000														132			102		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658651	46658651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:46658651C>T	uc003oyj.3	+	0	3040	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L	TDRD6_uc010jze.3_Missense_Mutation_p.S929L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	929					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTCTGGCTTCAATTAATGAA	0.333000														86			29		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143511	177143511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:177143511C>T	uc003iuq.2	-	2	451	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ASB5_uc003iup.2_Missense_Mutation_p.G60R	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	113					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACGTGATCTCCAAGGCAGGCT	0.423000														40			65		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564698	176564698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:176564698G>A	uc001gkz.3	+	2	3122	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	PAPPA2_uc001gky.1_Missense_Mutation_p.R653H|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	653	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R653S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGATGTGCGCAAGACCTGC	0.527000														51			7		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749597	22749597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:22749597G>A	uc003gqp.4	+	2	1056	c.965G>A	c.(964-966)gGa>gAa	p.G322E	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.G323E	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	322					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAAGAAAGGAGAACTAGGT	0.383000														9			4		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33733715	33733715	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:33733715G>A	uc003and.4	-	10	1783	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	LARGE_uc011amd.2_Silent_p.L201L|LARGE_uc003ane.4_Silent_p.L402L|LARGE_uc010gwp.3_Intron|LARGE_uc011ame.2_Silent_p.L334L|LARGE_uc011amf.2_Silent_p.L402L|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	402					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGAAGGTCAGGTAGAGGTTG	0.532000														55			48		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400111	103400111	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:103400111C>T	uc001dum.3	-	46	3847	c.3529_splice	c.e46-1	p.G1177_splice	COL11A1_uc001duk.3_Splice_Site_p.G361_splice|COL11A1_uc001dul.3_Splice_Site_p.G1165_splice|COL11A1_uc001dun.3_Splice_Site_p.G1126_splice|COL11A1_uc009weh.3_Splice_Site_p.G1049_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1165	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCATCACCTCCCTAGAGAAG	0.433000														29			35		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117662760	117662760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117662760G>A	uc003pxp.1	-	28	4904	c.4705C>T	c.(4705-4707)Cgg>Tgg	p.R1569W	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1569	Fibronectin type-III 7.				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)		GTGTCTGACCGCACAGTTGTA	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									18			8		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661491	6661492	+	Silent	DNP	GT	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6661491_6661492GT>AA	uc001mem.1	-	1	1754_1755	c.1353_1354AC>TT	c.(1351-1356)ccactg>ccTTtg	p.451_452PL>PL		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	451	Cadherin 4.				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)		TCAGCCCGCAGTGGAGGTGAGC	0.589000														10			6		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21852052	21852052	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:21852052C>A	uc001wao.2	-	0	374	c.35G>T	c.(34-36)cGg>cTg	p.R12L	SUPT16H_uc001waq.2_Missense_Mutation_p.R12L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	12					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTTCACTCGCCGATAATAAGC	0.567000														9			36		4.01344e-20	4.11082e-20	1	1	0
FLG	2312	broad.mit.edu	37	1	152277838	152277838	+	Missense_Mutation	SNP	G	A	A	rs139489857		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152277838G>A	uc001ezu.1	-	2	9560	c.9524C>T	c.(9523-9525)tCc>tTc	p.S3175F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3175	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGCTGTCTCC	0.552000									Ichthyosis					247			330		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521566	182521566	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:182521566C>T	uc002unx.3	-	0	269	c.168G>A	c.(166-168)agG>agA	p.R56R	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.R56R|CERKL_uc010zfm.2_Silent_p.R56R|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Silent_p.R56R|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Silent_p.R56R|CERKL_uc021vth.1_Intron|CERKL_uc021vti.1_Intron|CERKL_uc021vtj.1_Intron|CERKL_uc021vtk.1_Intron|CERKL_uc021vtl.1_Intron|CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|CERKL_uc002uoe.3_Silent_p.R56R	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	56					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CACAACTGTCCCTCCCGATCT	0.711000														71			6		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973733	235973733	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235973733G>A	uc001hxj.2	-	4	560	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.L129L	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	129					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGACTAGACAGGGCACTTCCT	0.383000														26			39		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286925	130286925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:130286925C>T	uc001qgg.4	-	2	1364	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	336	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTCCCGATGTCTGCCACACCC	0.602000														52			6		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58491917	58491917	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:58491917A>G	uc001nnb.3	-	1	208	c.53T>C	c.(52-54)tTg>tCg	p.L18S	GLYAT_uc001nnc.3_Missense_Mutation_p.L18S	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCTCTTCCTCAAGGATTTCTC	0.443000														13			18		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	A	A	rs141762692		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:51412038G>A	uc001nhi.2	-	0	411	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468000														20			11		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626042	37626042	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:37626042A>T	uc003onu.1	-	2	1540	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	121	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACGCGGATGGACTTGATGGCC	0.682000														9			11		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58010475	58010475	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58010475A>G	uc002emv.4	+	0	137	c.100A>G	c.(100-102)Act>Gct	p.T34A	TEPP_uc002emw.4_Missense_Mutation_p.T34A	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	34						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CAGTCAAAGAACTGAAAGTCC	0.512000														32			38		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087112	100087112	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100087112C>T	uc003uvd.1	+	3	1927	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	NYAP1_uc003uve.1_Silent_p.L372L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	590																	CAAGATCCAGCTGCAGGAGCA	0.632000														30			56		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24188792G>A	uc003xdy.3	+	11	1316	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_uc003xdx.3_Silent_p.G411G|ADAM28_uc011kzz.2_Silent_p.G178G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G98G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000														29			20		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893013	75893013	+	Silent	SNP	G	A	A	rs147111006	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:75893013G>A	uc021zbv.1	-	8	1679	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.I548I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Silent_p.I206I	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	548	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.L547R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCCCATCCGTGATAAGAATCA	0.413000														14			69		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33613051	33613051	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33613051G>A	uc001bxb.3	-	4	1793	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	385	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TGCAGTAGAAGCCGCGGCTGG	0.637000														23			27		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505199	37505199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37505199G>A	uc021ppc.1	+	31	2891	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G931E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	987						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G931A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACGTACAGGAAAAATGGAA	0.333000														6			5		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512515	4512515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:4512515C>T	uc002mar.1	-	2	1415	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	472	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCAGGCCGCCCTGGACGGC	0.597000														81			61		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970858	85970858	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:85970858C>T	uc001kcv.3	+	12	1527	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	CDHR1_uc001kcw.3_Silent_p.S474S|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTTCGACTCCCTCTACTACG	0.582000														66			50		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954932	954932	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:954932G>A	uc003gbw.3	-	21	2706	c.2632C>T	c.(2632-2634)Cga>Tga	p.R878*	DGKQ_uc010ibn.3_Nonsense_Mutation_p.R865*	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	878					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGTGACTCGGAAGTAGGAA	0.692000														23			22		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73023356	73023356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:73023356C>T	uc003pga.3	+	27	4188	c.4111C>T	c.(4111-4113)Cgc>Tgc	p.R1371C	RIMS1_uc011dyb.2_Missense_Mutation_p.R768C|RIMS1_uc003pgc.3_Missense_Mutation_p.R820C|RIMS1_uc010kaq.3_Missense_Mutation_p.R691C|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Missense_Mutation_p.R411C|RIMS1_uc003pgf.3_Missense_Mutation_p.R380C|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Missense_Mutation_p.R437C|RIMS1_uc011dye.2_Missense_Mutation_p.R177C|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1371	Ser-rich.				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			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)				GCAATCTGAGCGCCCCAGGGG	0.423000														11			5		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:161020597A>G	uc003qtl.3	-	20	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3582	Kringle 10.				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)	AAGCTTGGCAAGTTCTTCCTG	0.498000														319			4		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:206240150G>A	uc001hdt.1	-	4	941	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000														19			172		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297462	217297462	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:217297462C>T	uc002vgc.4	+	7	1686	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	SMARCAL1_uc002vgd.4_Silent_p.G452G|SMARCAL1_uc010fvg.3_Silent_p.G452G	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.	452	Helicase ATP-binding.				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			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)		CCAAAGGAGGCCGCCTGCTGC	0.602000									Schimke Immuno-Osseous Dysplasia					21			41		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5806560	5806560	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:5806560C>T	uc003gil.1	+	16	2737	c.2553C>T	c.(2551-2553)gtC>gtT	p.V851V	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	851					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGGCGGTCCACCAGAGGT	0.582000														29			15		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622638	37622638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:37622638G>A	uc003onu.1	-	4	1829	c.650C>T	c.(649-651)tCt>tTt	p.S217F	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	217	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTTACGCACAGACACCTGGCA	0.607000														159			89		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413978	105413978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:105413978C>T	uc010axc.1	-	6	7930	c.7810G>A	c.(7810-7812)Gcc>Acc	p.A2604T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A2504T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2604						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)			ACATCGGGGGCTGTCACTTCC	0.627000														22			159		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74481580	74481580	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:74481580G>A	uc002axj.3	-	11	1443	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	STRA6_uc002axi.3_Silent_p.I131I|STRA6_uc010ulh.2_Silent_p.I360I|STRA6_uc002axk.3_Silent_p.I322I|STRA6_uc002axl.3_Silent_p.I254I|STRA6_uc010bji.3_Silent_p.I322I|STRA6_uc021sqg.1_Silent_p.I337I|STRA6_uc002axm.3_Silent_p.I322I|STRA6_uc002axn.3_Silent_p.I313I|STRA6_uc010uli.2_Silent_p.I359I|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	322					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCACCTTCTGGATAGTGGGTA	0.622000														1			9		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751628	19751628	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:19751628G>A	uc009zzj.3	-	3	600	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	165					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTCTAGCTTGGACTTCTTGC	0.577000														126			45		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45089808	45089808	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:45089808C>T	uc002zdk.3	+	1	288	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	58					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAGGGGCTCTTCTACTGCA	0.453000														51			36		0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119353	32119353	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:32119353G>A	uc011adh.2	-	0	168	c.168C>T	c.(166-168)ggC>ggT	p.G56G		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	Homo sapiens keratin associated protein 21-2 (KRTAP21-2), mRNA.	56						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						catatccacagccagagccgt	0.512000														50			22		0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40958723	40958723	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40958723G>A	uc002ibm.4	+	4	844	c.612G>A	c.(610-612)agG>agA	p.R204R	CNTD1_uc010wha.2_Silent_p.R121R	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	204										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCCATGAGGCTGCATGCAA	0.468000														20			180		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128851509	128851509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:128851509G>A	uc003vor.3	+	10	2114	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	SMO_uc003vos.3_Missense_Mutation_p.A287T	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	612					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGCCCTCAGCTGATGTCTC	0.577000			Mis		skin basal cell									66			88		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833312	43833312	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:43833312G>A	uc002zbe.3	+	3	618	c.534G>A	c.(532-534)acG>acA	p.T178T	UBASH3A_uc002zbf.3_Silent_p.T178T|UBASH3A_uc010gpe.3_Silent_p.T178T|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	178						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTTCGCCACGGAAGCATCTC	0.622000														75			24		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37508414G>A	uc021ppc.1	+	33	3705	c.3606G>A	c.(3604-3606)agG>agA	p.R1202R	ANKRD30A_uc001iza.1_Silent_p.R1202R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000														5			3		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3680096	3680096	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:3680096G>A	uc002wja.3	-	6	1539	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	SIGLEC1_uc002wiz.4_Silent_p.L513L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	513	Ig-like C2-type 5.				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						GGCTGATGAGGAGACGGGCGG	0.627000														13			20		0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5923822	5923823	+	Splice_Site	DNP	CC	TT	TT	rs1141691		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:5923822_5923823CC>TT	uc002mdw.3	-	12	1326	c.1099_splice	c.e12+1	p.E367_splice	RANBP3_uc002mdv.3_Splice_Site_p.E86_splice|RANBP3_uc002mdx.3_Splice_Site_p.E362_splice|RANBP3_uc002mdy.3_Splice_Site_p.E299_splice|RANBP3_uc002mdz.3_Splice_Site_p.E294_splice|RANBP3_uc010duq.3_Splice_Site_p.E272_splice|RANBP3_uc010xix.2_Splice_Site_p.E239_splice	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	367				E -> G (in Ref. 1; CAA69957).	intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGCTAACATACCTTTCTCAGGG	0.589000														21			19		0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57288560	57288560	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57288560C>T	uc010zzs.1	+	8	1181	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	NPEPL1_uc010zzr.2_Silent_p.A314A|NPEPL1_uc010gjo.2_Silent_p.A334A|NPEPL1_uc002xzp.3_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	362					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGGGGGCCGACATCATCC	0.622000														20			20		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652714	24652714	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24652714G>C	uc001wmv.1	-	20	3090	c.2069C>G	c.(2068-2070)gCc>gGc	p.A690G	IPO4_uc001wmt.1_Missense_Mutation_p.A168G|IPO4_uc001wmu.2_Missense_Mutation_p.A352G|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.A554G|IPO4_uc001wmy.1_Missense_Mutation_p.A554G|IPO4_uc001wmz.2_Missense_Mutation_p.A690G	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	690					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGGAAGGAAGGCCACACTACA	0.582000														20			5		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344791	24344791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24344791C>T	uc003xeb.3	+	10	1165	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	ADAM7_uc003xec.3_Missense_Mutation_p.T123I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	351	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.C350*(1)		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)		TTCCCATGCACCTGTCCTTCA	0.448000														48			19		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866004	140866004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:140866004G>A	uc003ett.3	+	2	960	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	239	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCACTGATGGACCTGTGCCG	0.627000														33			35		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47305233	47305233	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:47305233C>T	uc002xtw.1	-	9	1319	c.1296G>A	c.(1294-1296)cgG>cgA	p.R432R		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	432	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R432Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCAGCTTTCTCCGGCGGTCCT	0.562000														77			20		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44938250	44938250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:44938250C>T	uc003coc.4	+	5	672	c.599C>T	c.(598-600)tCc>tTc	p.S200F	TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	200					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACTGAGAGCTCCCTCAAGCCC	0.512000														9			95		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586350	15586350	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15586350C>T	uc002nbg.3	-	2	1265	c.1132_splice	c.e2+1	p.G378_splice	PGLYRP2_uc002nbf.4_Splice_Site_p.G378_splice	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	378					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTTCCTCACCCAGGAAGGCCT	0.567000														122			75		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421469	134421469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:134421469G>A	uc022ceq.1	-	5	1523	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.S283F	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AATAAGATCAGAGCTAACTCT	0.408000														2			19		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263027	34263027	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:34263027C>A	uc002xdw.2	-	7	965	c.888G>T	c.(886-888)gtG>gtT	p.V296V	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_5'Flank|NFS1_uc002xdt.2_Silent_p.V236V|NFS1_uc010zvl.2_Silent_p.V245V|NFS1_uc010zvk.2_Silent_p.V94V	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	296					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGGTGTGGGCACTGTCCCAG	0.657000														86			71		6.47592e-44	6.66737e-44	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13883157	13883157	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13883157G>A	uc003jfd.2	-	19	3072	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1010	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGCCCGGAAAATGGGCA	0.458000									Kartagener syndrome					97			5		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103546243	103546243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:103546243G>A	uc001ktv.2	-	15	3159	c.2716C>T	c.(2716-2718)Cca>Tca	p.P906S	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.P853S|MGEA5_uc009xws.2_Missense_Mutation_p.P839S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	906	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACATCCTTTGGAAATCCTTCC	0.413000														39			31		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054029	143054029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143054029C>T	uc010lpa.3	-	6	841	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	FAM131B_uc010loz.3_Missense_Mutation_p.E173K|FAM131B_uc003wct.3_Missense_Mutation_p.E205K|FAM131B_uc003wcu.4_Missense_Mutation_p.E205K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	205										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCGCTGGCTTCCCAGGCATCT	0.547000														31			46		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953652	1953652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1953652C>T	uc021qsx.1	-	24	2617	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.D660N|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	796						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGAAGCGGTCCAGGGTGAAC	0.597000														15			16		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092524	39092524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:39092524C>T	uc002hvm.1	-	1	921	c.332G>A	c.(331-333)aGa>aAa	p.R111K	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R111K|KRT23_uc002hvn.1_Missense_Mutation_p.R111K	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	111	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCCAGGATCTCTCTGCTGGTG	0.547000														8			59		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526164	21526164	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:21526164C>T	uc002kuq.3	+	69	9353	c.9267C>T	c.(9265-9267)gcC>gcT	p.A3089A	LAMA3_uc002kur.3_Silent_p.A3033A|LAMA3_uc002kus.4_Silent_p.A1480A|LAMA3_uc002kut.4_Silent_p.A1424A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3089	Laminin G-like 4.				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)	GACTGAGGGCCCGGGAGGGAA	0.493000														42			32		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76072103	76072103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:76072103G>A	uc001oxh.1	-	2	215	c.215C>T	c.(214-216)cCt>cTt	p.P72L	PRKRIR_uc010rrz.1_5'Flank	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	72					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGTCCTATAAGGACTCTGAAA	0.308000														33			16		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48137379	48137379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:48137379C>T	uc001rpz.4	-	17	2309	c.1759G>A	c.(1759-1761)Gca>Aca	p.A587T	RAPGEF3_uc001rpw.3_5'Flank|RAPGEF3_uc001rpx.3_Missense_Mutation_p.A2T|RAPGEF3_uc010sln.2_Intron|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.A545T|RAPGEF3_uc009zkq.3_Missense_Mutation_p.A545T	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	545					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCCAACGCTGCCATCACCTCT	0.607000														40			30		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254876	30254876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:30254876G>A	uc022bug.1	+	0	835	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	MAGEB3_uc004dca.2_Missense_Mutation_p.A279T	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	279	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGGTCCAAGAGCCCATGCTGA	0.488000														5			36		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436032	39436032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:39436032G>A	uc003gua.3	+	1	1125	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	KLB_uc011byj.2_Missense_Mutation_p.G343E	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	343	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TATCCAGAGGGGATGAGAAAG	0.453000														53			31		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107080872	107080872	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:107080872G>A	uc001tlt.3	+	5	755	c.615G>A	c.(613-615)gaG>gaA	p.E205E	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.E196E|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.E205E|RFX4_uc001tlv.3_Silent_p.E102E|LOC100505978_uc001tlu.3_5'Flank	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	196					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGCCTGAGGAGAAGGTAACTA	0.483000														47			42		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846192	55846192	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:55846192C>T	uc001sgz.1	+	0	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAATTTTTCCTTCTTAGAAG	0.398000														22			10		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048881	116048881	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:116048881G>A	uc001lbl.1	+	11	2076	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	VWA2_uc001lbk.1_Silent_p.L585L|VWA2_uc009xyf.1_Silent_p.L281L	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	585	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTTCGGGCTGGACACCAAAC	0.642000														20			13		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156591	155156591	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:155156591C>T	uc003inw.2	-	24	7848	c.7848G>A	c.(7846-7848)tgG>tgA	p.W2616*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2616					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTAAACTCAACCATTCCGGAG	0.488000														21			25		0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184432007	184432007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:184432007C>T	uc003ivs.1	+	1	874	c.745C>T	c.(745-747)Cca>Tca	p.P249S	ING2_uc011ckk.1_Missense_Mutation_p.P209S	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	249					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	DNA binding|chromatin binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TACCTATAAACCAAAGGGGAA	0.383000														39			17		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851967	97851967	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:97851967C>T	uc011bgt.2	+	0	426	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GACTGTGCATCCGGCTATTAA	0.393000														105			54		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987604	61987604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:61987604G>A	uc001vid.4	-	1	992	c.628C>T	c.(628-630)Cct>Tct	p.P210S	PCDH20_uc010thj.2_Missense_Mutation_p.P210S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	183	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGAAACAGGGAACTGCGGG	0.522000														70			84		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579779	81579779	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:81579779G>A	uc003uhr.1	-	38	3461	c.3205C>T	c.(3205-3207)Ctg>Ttg	p.L1069L	AK092048_uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Silent_p.L281L	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1081						voltage-gated calcium channel complex	metal ion binding	p.L1069L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATATACCACAGGGAGGGATTT	0.363000														10			7		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641669	15641669	+	Silent	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:15641669A>C	uc010cov.3	+	6	605	c.355A>C	c.(355-357)Aga>Cga	p.R119R	TBC1D26_uc010cou.1_Silent_p.R119R|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	119	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGATATTGACAGAATCAAGTC	0.502000														66			47		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322676	103322676	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:103322676A>T	uc022ajr.1	-	10	1336	c.1176T>A	c.(1174-1176)taT>taA	p.Y392*	RELN_uc022ajq.1_Nonsense_Mutation_p.Y392*|RELN_uc010liz.3_Nonsense_Mutation_p.Y392*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	392					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)		TTCCATGGAAATAAATGGAGT	0.438000														29			50		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978122	12978122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:12978122G>A	uc003bxt.2	-	2	445	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	IQSEC1_uc003bxu.3_Missense_Mutation_p.R24C|IQSEC1_uc011auw.1_Missense_Mutation_p.R132C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	146	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTACTGGCGAAACGCCGTC	0.582000														4			3		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971583	55971583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:55971583C>T	uc002adg.3	-	6	1082	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	345	Ig-like 4.				multicellular organismal development	integral to membrane		p.R345Q(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACACACAAATCGAGCAGTGCC	0.393000														10			36		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70346850	70346850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:70346850C>T	uc002asl.2	-	14	2063	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	TLE3_uc002ask.2_Missense_Mutation_p.A515T|TLE3_uc010ukd.1_Missense_Mutation_p.A578T|TLE3_uc010bil.1_Missense_Mutation_p.A585T|TLE3_uc002asn.2_Missense_Mutation_p.A576T|TLE3_uc002asm.2_Missense_Mutation_p.A588T|TLE3_uc002asp.2_Missense_Mutation_p.A580T|TLE3_uc002aso.2_Missense_Mutation_p.A583T	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	588					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGACTTTGGCGTCAGGGCTA	0.637000														51			3		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603136	10603136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:10603136C>T	uc001qyl.3	-	2	444	c.230G>A	c.(229-231)gGa>gAa	p.G77E	KLRC1_uc009zhm.2_Missense_Mutation_p.G77E|KLRC1_uc001qym.3_Missense_Mutation_p.G77E|KLRC1_uc001qyn.3_Missense_Mutation_p.G77E|KLRC1_uc001qyo.3_Missense_Mutation_p.G77E	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	77					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACAGATAATTCCCAGGATCCC	0.418000														65			38		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475510	224475510	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:224475510T>C	uc001hok.3	-	13	1823	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E	NVL_uc001hol.3_Silent_p.E481E|NVL_uc010pvd.2_Silent_p.E496E|NVL_uc010pve.2_Silent_p.E398E|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	587						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTCTAATGTCTTCCAGGGCAC	0.443000														37			31		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608238	84608238	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:84608238C>T	uc004amn.3	+	3	2900	c.2853C>T	c.(2851-2853)atC>atT	p.I951I		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	951						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCACCTTCATCTCTCAGGGAG	0.478000														44			30		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537565	15537565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:15537565C>T	uc002yjm.3	-	5	953	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.E264K|LIPI_uc021whh.1_Missense_Mutation_p.E294K|LIPI_uc021whi.1_Missense_Mutation_p.E129K|LIPI_uc021whj.1_Missense_Mutation_p.E294K|LIPI_uc021whe.1_Missense_Mutation_p.E259K|LIPI_uc021whf.1_Missense_Mutation_p.E294K	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	294					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATGATTTTTCCTTAAAACAG	0.318000														36			37		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661987	8661987	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8661987C>T	uc002mkj.1	-	7	1198	c.924G>A	c.(922-924)ggG>ggA	p.G308G	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	308	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G308W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCAGGGACTTCCCGGCATGGT	0.582000														76			64		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173060	126173060	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:126173060G>A	uc003vlr.2	-	7	2687	c.2376C>T	c.(2374-2376)atC>atT	p.I792I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I792I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	792					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				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)	CTAACCAAATGATGCAGGTGG	0.398000										HNSCC(24;0.065)				35			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140189164	140189164	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140189164G>T	uc011daa.2	+	0	2493	c.2392G>T	c.(2392-2394)Gta>Tta	p.V798L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron	NM_031500	NP_113688	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 2, mRNA.	0					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)			AAAGGTTAGTGTATAACATCC	0.388000														15			63		5.88917e-42	6.0588e-42	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123324046	123324046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:123324046C>T	uc021pzz.1	-	3	1071	c.424G>A	c.(424-426)Gat>Aat	p.D142N	FGFR2_uc021pzv.1_Missense_Mutation_p.D142N|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Missense_Mutation_p.D53N|FGFR2_uc021pzy.1_Missense_Mutation_p.D142N|FGFR2_uc010qtl.2_Missense_Mutation_p.D142N|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Missense_Mutation_p.D142N|FGFR2_uc021qab.1_Missense_Mutation_p.D53N|FGFR2_uc021qac.1_Missense_Mutation_p.D72N|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Missense_Mutation_p.D161N|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.D161N|FGFR2_uc010qtp.2_Missense_Mutation_p.D161N|FGFR2_uc010qtq.2_Missense_Mutation_p.D161N	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	142					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGACAAAATCTTCCGCACCA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					82			49		0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67614074	67614074	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67614074A>G	uc010dqo.3	-	1	725	c.278T>C	c.(277-279)cTt>cCt	p.L93P	CD226_uc002lkm.4_Missense_Mutation_p.L93P|CD226_uc021uli.1_Intron	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	93	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|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	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CCGAAAGAAAAGAGTCATGTT	0.443000														20			11		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033320	159033320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:159033320C>T	uc001ftj.1	-	4	1206	c.961G>A	c.(961-963)Gga>Aga	p.G321R		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	321	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGTTTTTCTCCATTTTTTGAC	0.413000														138			13		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406613	9406613	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9406613G>A	uc002mlc.1	-	4	1467	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCGGTGAGGGATGAGGAAC	0.443000														30			17		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871785	62871785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62871785G>A	uc002yii.3	+	22	3714	c.3350G>A	c.(3349-3351)aGg>aAg	p.R1117K	MYT1_uc002yij.3_Missense_Mutation_p.R776K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1117					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGGCTGTGAGGGGCATCCAG	0.602000														54			40		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647994	7647994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7647994C>T	uc001qsz.3	-	5	1231	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	CD163_uc001qta.3_Missense_Mutation_p.G368E|CD163_uc009zfw.2_Missense_Mutation_p.G368E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	368					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGATCTGATCCATCTGCAAA	0.438000														23			17		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46792594	46792594	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:46792594C>T	uc003bhw.1	-	12	5751	c.5751G>A	c.(5749-5751)gaG>gaA	p.E1917E	CELSR1_uc011arc.1_Silent_p.E238E	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1917	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCCCATGTTCTCGCAGGGGT	0.607000														17			13		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060109	111060109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:111060109C>T	uc001dzt.1	-	0	1689	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	434						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CACAATCTTCCCCCCTGGGGT	0.562000														13			27		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141464	114141464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:114141464G>A	uc004epu.1	+	5	1591	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	HTR2C_uc010nqc.1_Missense_Mutation_p.R288Q|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	288					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	p.R288Q(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AACGCACGCCGAAGAAAGAAG	0.488000														3			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776634	13776634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13776634C>T	uc003jfd.2	-	54	9329	c.9287G>A	c.(9286-9288)cGa>cAa	p.R3096Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTGTTTCGAAATTTCTC	0.478000									Kartagener syndrome					33			4		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462335	36462335	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:36462335T>C	uc003tff.3	+	13	2597	c.2393T>C	c.(2392-2394)aTg>aCg	p.M798T	ANLN_uc011kaz.2_Missense_Mutation_p.M710T|ANLN_uc003tfg.3_Missense_Mutation_p.M761T|ANLN_uc010kxe.3_Missense_Mutation_p.M760T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	798	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTGAATTTATGCCATCCAAA	0.398000														80			49		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67817967	67817967	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67817967T>A	uc002lkp.2	-	14	2000	c.1932A>T	c.(1930-1932)gaA>gaT	p.E644D	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	644							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CACCTAAACATTCCTGtaaaa	0.294000														33			35		0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120941789	120941789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120941789C>T	uc001tyn.3	-	5	886	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	COQ5_uc010szj.2_Missense_Mutation_p.R215Q	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	289					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	p.R289*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGAAACCTTCGGATACTCTC	0.458000														131			19		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883522	30883522	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30883522G>A	uc011dmz.2	+	5	556	c.475_splice	c.e5-1	p.A159_splice	VARS2_uc003nsc.2_Splice_Site_p.A129_splice|VARS2_uc003nsd.3_Splice_Site_p.A129_splice|VARS2_uc011dmx.2_Splice_Site_p.A129_splice|VARS2_uc011dmy.2_Splice_Site|VARS2_uc011dna.2_Splice_Site_p.A129_splice|VARS2_uc011dnb.2_Splice_Site|VARS2_uc011dnc.2_Splice_Site	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	129					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTTCCTCTAGGCCCGGCTGC	0.527000														69			65		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40982966	40982966	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:40982966C>T	uc004dfb.3	+	1	718	c.85C>T	c.(85-87)Caa>Taa	p.Q29*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q29*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	29					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCCCCCCTCCAACAGAATCA	0.557000														15			3		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120911459	120911459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:120911459G>A	uc003vjq.4	+	21	3290	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	948						endoplasmic reticulum		p.Q947K(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTCTACAGGGGAAGTGTGGA	0.323000														23			17		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114905824	114905824	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:114905824C>T	uc021pyi.1	+	7	1350	c.843C>T	c.(841-843)ccC>ccT	p.P281P	TCF7L2_uc001lah.3_Silent_p.P258P|TCF7L2_uc010qro.2_Silent_p.P258P|TCF7L2_uc001lae.4_Silent_p.P281P|TCF7L2_uc010qrm.2_Silent_p.P281P|TCF7L2_uc010qrn.2_Silent_p.P224P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Silent_p.P258P|TCF7L2_uc021pyj.1_Silent_p.P281P|TCF7L2_uc021pyk.1_Silent_p.P258P|TCF7L2_uc021pyl.1_Silent_p.P258P|TCF7L2_uc010qrp.2_Silent_p.P258P|TCF7L2_uc021pym.1_Silent_p.P254P|TCF7L2_uc021pyn.1_Silent_p.P281P|TCF7L2_uc021pyo.1_Silent_p.P281P|TCF7L2_uc021pyp.1_Silent_p.P277P|TCF7L2_uc010qrq.2_Silent_p.P254P|TCF7L2_uc001lac.4_Silent_p.P258P|TCF7L2_uc010qrk.2_Silent_p.P258P|TCF7L2_uc001lad.4_Silent_p.P254P|TCF7L2_uc001lag.4_Silent_p.P305P|TCF7L2_uc001laf.4_Silent_p.P258P|TCF7L2_uc010qrl.2_Silent_p.P258P|TCF7L2_uc010qrr.2_Silent_p.P196P|TCF7L2_uc010qrs.2_Silent_p.P152P|TCF7L2_uc010qrt.2_Silent_p.P152P|TCF7L2_uc010qru.2_Silent_p.P175P|TCF7L2_uc010qrv.2_Silent_p.P98P|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Silent_p.P138P	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	281	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCCTACCCCACAGCTCTGA	0.517000			T	VTI1A	colorectal									95			63		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738857	84738857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:84738857G>A	uc021pvc.1	+	7	1591	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	NRG3_uc010qlz.1_Missense_Mutation_p.D521N|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.D522N|NRG3_uc001kcp.2_Missense_Mutation_p.D301N|NRG3_uc001kcq.2_Missense_Mutation_p.D172N|NRG3_uc021pvd.1_Missense_Mutation_p.D301N|NRG3_uc021pve.1_Missense_Mutation_p.D326N|NRG3_uc021pvf.1_Missense_Mutation_p.D172N|NRG3_uc021pvg.1_Missense_Mutation_p.D326N|NRG3_uc021pvh.1_Missense_Mutation_p.D110N|NRG3_uc021pvi.1_Missense_Mutation_p.D352N|NRG3_uc021pvk.1_Missense_Mutation_p.D38N|NRG3_uc001kcr.2_Missense_Mutation_p.D172N|NRG3_uc021pvl.1_Missense_Mutation_p.D172N	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	522					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCAGACCAGGATACGATACC	0.478000														14			10		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544117	20544117	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:20544117G>A	uc003gpr.1	+	21	2348	c.2144_splice	c.e21-1	p.G715_splice	SLIT2_uc003gps.1_Splice_Site_p.G707_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	715					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						TGCGATTTAGGAAATGATGAC	0.408000														86			129		0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110424719	110424720	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:110424719_110424720AG>TA	uc003ptv.1	-	8	1591_1592	c.754_755CT>TA	c.(754-756)ctt>TAt	p.L252Y	WASF1_uc003ptw.1_Missense_Mutation_p.L252Y|WASF1_uc003ptx.1_Missense_Mutation_p.L252Y|WASF1_uc003pty.1_Missense_Mutation_p.L252Y	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	252					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CAAGGCAGAAAGTGAGTAAGAT	0.411000														7			41		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2550412C>T	uc002cql.3	+	6	1586	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TBC1D24_uc002cqk.3_Silent_p.F476F|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	482	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000														6			9		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718553	24718553	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24718553T>C	uc001wod.3	-	14	2544	c.2420A>G	c.(2419-2421)gAg>gGg	p.E807G	TGM1_uc010tog.2_Missense_Mutation_p.E365G	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	807					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGGGATGGTCTCTCCTAAGTG	0.602000														7			54		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643289	31643289	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:31643289A>G	uc002wym.1	+	0	60	c.60A>G	c.(58-60)ccA>ccG	p.P20P		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	20	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGGCGACTCCATGCCAGGAGC	0.617000														97			11		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147339	65147339	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:65147339G>A	uc001odr.1	-	4	357	c.153_splice	c.e4+1	p.S51_splice	SLC25A45_uc009yqi.1_Splice_Site_p.S51_splice|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_Splice_Site_p.S9_splice|SLC25A45_uc001odt.1_Splice_Site_p.S9_splice	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	51					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GCCACTCACGGACTCATGGCG	0.612000														26			34		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795970	15795970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15795970G>A	uc002nbl.3	+	8	1197	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		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)					GGAGGTGCAAGAGCTTCTGAA	0.572000														59			3		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91091009	91091009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:91091009G>A	uc004efk.2	+	0	1351	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PCDH11X_uc004efl.2_Missense_Mutation_p.G169E|PCDH11X_uc010nmv.2_Missense_Mutation_p.G169E|PCDH11X_uc004efm.2_Missense_Mutation_p.G169E|PCDH11X_uc004efn.2_Missense_Mutation_p.G169E|PCDH11X_uc004efo.2_Missense_Mutation_p.G169E|PCDH11X_uc004efh.2_Missense_Mutation_p.G169E|PCDH11X_uc004efj.1_Missense_Mutation_p.G169E	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	169	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V168I(1)		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						CCTGACGTAGGAATAAACGGA	0.343000														2			25		0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987244	7987244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:7987244G>A	uc003mxx.4	+	0	910	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		GCCGCTGATTGAACTCTGTAG	0.502000														16			13		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461119	66461119	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:66461119C>G	uc021xzk.1	+	28	6420	c.6112C>G	c.(6112-6114)Ccg>Gcg	p.P2038A	MAST4_uc003jut.2_Missense_Mutation_p.P1849A|MAST4_uc003juw.3_Missense_Mutation_p.P1777A|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2041						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGGGCGCCGGGTGGGAA	0.557000														11			9		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133726259	133726259	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133726259T>C	uc003ytn.3	-	8	1026	c.797A>G	c.(796-798)aAa>aGa	p.K266R	TMEM71_uc003ytm.2_Missense_Mutation_p.K106R|TMEM71_uc003yto.3_Missense_Mutation_p.K222R	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	285						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGCAGTGGTTTTGAAATAGCT	0.363000														52			18		0	0	1	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45683139	45683139	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45683139G>A	uc002pax.4	+	1	681	c.585G>A	c.(583-585)gaG>gaA	p.E195E	TRAPPC6A_uc002pav.3_5'Flank|TRAPPC6A_uc002paw.3_5'Flank|BLOC1S3_uc021uvu.1_Silent_p.E195E	NM_212550	NP_997715	Q6QNY0	BL1S3_HUMAN	Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 3 (BLOC1S3), mRNA.	195					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	p.E195fs*>8(1)		ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCGAGCCTGAGAAAGACCCGG	0.667000									Hermansky-Pudlak syndrome					31			24		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124922255	124922255	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:124922255G>T	uc011lyn.2	+	0	66	c.4G>T	c.(4-6)Gag>Tag	p.E2*	NDUFA8_uc004blv.3_5'Flank|MORN5_uc011lyo.1_Nonsense_Mutation_p.E2*|MORN5_uc004blw.2_Nonsense_Mutation_p.E2*	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	2										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGGCGCCATGGAGTACACAGG	0.488000														37			36		2.13384e-23	2.18883e-23	1	1	0
FLYWCH2	114984	broad.mit.edu	37	16	2946570	2946570	+	Silent	SNP	C	T	T	rs151309938		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2946570C>T	uc002csa.3	+	2	491	c.120C>T	c.(118-120)tcC>tcT	p.S40S	FLYWCH2_uc010uwj.2_Silent_p.S40S|FLYWCH2_uc010uwk.2_Silent_p.S40S	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	Homo sapiens FLYWCH family member 2 (FLYWCH2), transcript variant 1, mRNA.	40										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GAAAGTTCTCCAAACTGGTCC	0.652000														138			50		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265445	1265445	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1265445G>A	uc001lta.3	+	30	7394	c.7335G>A	c.(7333-7335)acG>acA	p.T2445T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2445	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2448T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGAGTCCA	0.672000														124			71		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115523956	115523956	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115523956G>T	uc001efr.3	+	29	2592	c.2383_splice	c.e29-1	p.K795_splice	SYCP1_uc010owt.2_Splice_Site|SYCP1_uc001efq.3_Splice_Site_p.K795_splice|SYCP1_uc009wgw.3_Splice_Site_p.K770_splice	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	795					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAATGCAGAAAACACAAA	0.289000														12			4		0.014758	0.0147898	1	1	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130670814	130670814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130670814G>A	uc004bss.3	-	5	1042	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	ST6GALNAC4_uc004bst.3_Missense_Mutation_p.R172W	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	256					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCATCTAGCCGGCCCTTCTCA	0.637000														50			34		0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910232	132910232	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:132910232T>A	uc003qdk.2	-	0	646	c.594A>T	c.(592-594)aaA>aaT	p.K198N		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	198					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.K198T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGCCCCAAAATTTATTGAGCA	0.483000														5			37		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116428926	116428926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:116428926G>A	uc001tvw.3	-	16	3888	c.3833C>T	c.(3832-3834)gCg>gTg	p.A1278V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1278					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGCTCCAACGCATTAAAGCA	0.493000														66			33		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417205	130417205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:130417205G>A	uc004ewe.4	-	5	984	c.701C>T	c.(700-702)cCt>cTt	p.P234L	IGSF1_uc004ewd.3_Missense_Mutation_p.P234L|IGSF1_uc022cdv.1_Missense_Mutation_p.P225L|IGSF1_uc004ewf.2_Missense_Mutation_p.P214L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	234	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.H233Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATGGGCCCAGGATGGGCTGT	0.478000														7			15		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26218498	26218498	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:26218498C>T	uc003xeu.3	+	5	797	c.468C>T	c.(466-468)gtC>gtT	p.V156V	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Silent_p.V166V	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGTGCCAGTCTTTAGGCCTA	0.338000														48			35		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21549990	21549990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:21549990C>T	uc004czx.2	+	10	1588	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	CNKSR2_uc004czw.3_Missense_Mutation_p.L370F|CNKSR2_uc011mjn.2_Missense_Mutation_p.L321F|CNKSR2_uc011mjo.2_Missense_Mutation_p.L370F|CNKSR2_uc004czy.3_5'UTR	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	370	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						AAAAGGAAACCTTCCTTGTGA	0.388000														2			9		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310004	24310004	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24310004T>C	uc002nru.3	+	3	1336	c.1202T>C	c.(1201-1203)gTt>gCt	p.V401A	ZNF254_uc010xrk.2_Missense_Mutation_p.V316A	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	401					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAATTCATGTTGGAGAGAAA	0.338000														9			2		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944159	50944159	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:50944159T>C	uc003blp.2	-	5	891	c.860A>G	c.(859-861)gAc>gGc	p.D287G	LMF2_uc003blo.2_Missense_Mutation_p.D262G|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	287						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCTGGTCGTCCAGCAGCGC	0.642000														65			4		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729256	35729256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:35729256G>A	uc011axy.2	+	4	499	c.287G>A	c.(286-288)aGt>aAt	p.S96N	ARPP21_uc003cga.3_Missense_Mutation_p.S96N|ARPP21_uc003cgb.3_Missense_Mutation_p.S96N|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	96						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCTTTCCAGTTTTTCCAGC	0.363000														0			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598410	179598410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179598410C>T	uc021vsy.1	-	49	12199	c.11974G>A	c.(11974-11976)Ggc>Agc	p.G3992S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G653S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4919							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)			GTGTATTTGCCTCCAAAACTA	0.393000														9			29		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471452	128471452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:128471452G>A	uc002tpg.2	-	17	3212	c.3013C>T	c.(3013-3015)Cct>Tct	p.P1005S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1005					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTGGGTGAGGGCCACGCCTA	0.652000														234			14		0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377277	84377277	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:84377277T>C	uc003hor.4	+	0	160	c.47T>C	c.(46-48)tTg>tCg	p.L16S	HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.	16					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				AGGAAGAAGTTGACACACTTG	0.527000														216			36		0	0	1	0	0
ADK	132	broad.mit.edu	37	10	76468180	76468180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:76468180C>T	uc001jwi.3	+	10	1160	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	ADK_uc010qlb.2_Missense_Mutation_p.P299S|ADK_uc001jwj.3_Missense_Mutation_p.P339S|ADK_uc010qlc.2_Missense_Mutation_p.P321S	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	356					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGCACCTTTCCTGAGAAGCC	0.473000														18			13		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021131	5021131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5021131C>T	uc010qyu.2	+	0	919	c.919C>T	c.(919-921)Cac>Tac	p.H307Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	307					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)		AGGAATTCTCCACAAGTTTGT	0.403000														9			22		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36748880	36748880	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:36748880G>A	uc010tei.2	-	11	1314	c.999C>T	c.(997-999)atC>atT	p.I333I	CCDC169-SOHLH2_uc001uvj.3_Silent_p.I256I	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	333					regulation of transcription, DNA-dependent	nucleus											CGGCTGGAGAGATTTTCTCCC	0.373000														51			19		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117808727	117808727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:117808727C>T	uc004bjj.4	-	16	5499	c.5087G>A	c.(5086-5088)gGa>gAa	p.G1696E	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.G1333E	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1696	Fibronectin type-III 12.				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						GGATCGCCTTCCTTTGCTTAT	0.458000														86			64		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49877783	49877783	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:49877783C>T	uc003cxs.1	-	8	835	c.729G>A	c.(727-729)ttG>ttA	p.L243L	TRAIP_uc010hla.1_Silent_p.L144L	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	243	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCCTGATCCAATTCAGAGT	0.517000														6			64		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628998	21628998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:21628998C>T	uc003svc.3	+	11	2177	c.2146C>T	c.(2146-2148)Ctc>Ttc	p.L716F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	716	Stem (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						AAATGGTCTTCTCTGTGTCAA	0.313000									Kartagener syndrome					55			25		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:117175431C>T	uc003vjd.3	+	5	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	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.	237	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)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis					23			27		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325456	9325456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9325456C>T	uc002mla.2	-	0	92	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	20					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						AGTTCAGGATCATCTGAGAGT	0.507000														52			34		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36505490	36505490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:36505490C>T	uc001bzp.3	+	14	2287	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	EIF2C3_uc001bzq.3_Missense_Mutation_p.R414W	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	648	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCCATGGTCCGGGAACTTCT	0.483000														66			20		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365276	13365276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:13365276G>A	uc003nat.2	-	1	1619	c.872C>T	c.(871-873)cCg>cTg	p.P291L	GFOD1_uc021ylt.1_Missense_Mutation_p.P188L|GFOD1_uc003nas.2_Missense_Mutation_p.P188L	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	291						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTCTCCGGAAGCAGGGA	0.697000														83			27		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72009043	72009043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:72009043C>T	uc001swo.2	-	27	5557	c.5198G>A	c.(5197-5199)gGg>gAg	p.G1733E		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1733					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCAAAATTCCCTTTACATAA	0.358000														37			26		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815682	43815682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:43815682G>A	uc001zrt.3	+	3	2478	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	671						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)	AGATGAGGAGGAAGAGGACGC	0.478000														5			16		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171607827	171607827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:171607827C>T	uc001ghu.3	-	1	662	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	MYOC_uc010pmk.2_Missense_Mutation_p.E156K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	214					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)					GACTTCAGTTCCTGGAAGGCC	0.438000														51			39		0	0	1	0	0
FAM176A	84141	broad.mit.edu	37	2	75745252	75745252	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:75745252G>A	uc002sni.2	-	2	493	c.15C>T	c.(13-15)ctC>ctT	p.L5L	FAM176A_uc002snj.1_5'UTR|FAM176A_uc002snk.1_Silent_p.L5L	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	5	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GGCTGTGGCTGAGGGGCAGCC	0.567000														49			5		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180022198	180022198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:180022198C>T	uc001gnt.3	+	22	5269	c.4886C>T	c.(4885-4887)cCt>cTt	p.P1629L	CEP350_uc009wxl.2_Missense_Mutation_p.P1628L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1629						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCATTACTACCTTCAGAGAGT	0.373000														3			28		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118881	194118881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:194118881G>A	uc003ftv.1	-	1	162	c.131C>T	c.(130-132)tCc>tTc	p.S44F	GP5_uc021xiz.1_Missense_Mutation_p.S44F	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	44	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCTAGCGCGGAGATGCGCGC	0.697000														71			24		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54940014	54940014	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:54940014G>A	uc002iur.3	+	11	1746	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	522					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			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGTGGATGGGGAGCCTTGGG	0.433000														2			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280073	152280073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152280073C>T	uc001ezu.1	-	2	7325	c.7289G>A	c.(7288-7290)cGg>cAg	p.R2430Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2430	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2430W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCGGTCCGTCCATGGGC	0.587000									Ichthyosis					273			115		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553531	19553531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:19553531G>A	uc001vuz.1	+	0	167	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	39										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGGGGAGCGGCAAGAGCAA	0.592000														356			5		0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360058	54360058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:54360058G>A	uc021onq.1	+	0	198	c.175G>A	c.(175-177)Gac>Aac	p.D59N	DIO1_uc021onp.1_Intron|DIO1_uc009vzl.3_Missense_Mutation_p.D59N|DIO1_uc001cwb.3_Missense_Mutation_p.D59N|DIO1_uc021onr.1_Missense_Mutation_p.D59N|DIO1_uc001cwd.3_Intron|DIO1_uc001cwe.3_Intron|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	59					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTCAGCCACGACAACTGGAT	0.532000														115			103		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85862874	85862874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:85862874C>T	uc004ams.2	-	13	1955	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	FRMD3_uc004amr.1_Intron|FRMD3_uc022bja.1_Missense_Mutation_p.G541R|FRMD3_uc004amq.1_Intron|FRMD3_uc022biz.1_Intron	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	585						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGGACTTTCCCAGCCACCCAC	0.453000														130			103		0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214245	11214245	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:11214245G>A	uc001qzp.1	-	0	649	c.649C>T	c.(649-651)Caa>Taa	p.Q217*	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	217					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CTGGGATCTTGAGATCCTTTG	0.408000														34			19		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301045	26301045	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:26301045G>A	uc001bld.4	-	8	1035	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PAFAH2_uc001ble.4_Silent_p.F285F	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	285					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-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;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CCATTGTCTGGAATTTCTCAG	0.473000														39			15		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123433228	123433228	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:123433228G>A	uc001udm.4	-	4	1306	c.996C>T	c.(994-996)acC>acT	p.T332T	ABCB9_uc021rfo.1_Silent_p.T332T|ABCB9_uc021rfp.1_Silent_p.T332T|ABCB9_uc001udo.4_Silent_p.T332T|ABCB9_uc010taj.2_Silent_p.T332T|ABCB9_uc001udq.3_Silent_p.T114T|ABCB9_uc021rfq.1_Silent_p.T332T|ABCB9_uc001udr.3_Silent_p.T332T	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	332	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGCCCATGAAGGTGACCAAGG	0.557000														26			21		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552221	152552221	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152552221C>T	uc021oza.1	-	0	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R	LCE3D_uc001fab.3_Silent_p.R64R	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	64					keratinization			p.R64W(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCTCTGGCGCCGGCATCGGT	0.682000														56			30		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860284	16860285	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:16860284_16860285CC>TT	uc002neu.4	+	5	1253_1254	c.831_832CC>TT	c.(829-834)gtcctc>gtTTtc	p.L278F	NWD1_uc002net.4_Missense_Mutation_p.L143F|NWD1_uc002nev.4_Missense_Mutation_p.L72F|NWD1_uc021uqg.1_Missense_Mutation_p.L143F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	278							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						ATCACCAGGTCCTCACACGCCT	0.604000														29			14		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599352	31599352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31599352C>T	uc003nvb.4	+	15	3151	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P968S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	968	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCCTCCCAAGCCCCTCGAACA	0.612000														8			8		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:128135017C>T	uc011ebt.2	-	3	918	c.769G>A	c.(769-771)Gat>Aat	p.D257N	THEMIS_uc010kfa.3_Missense_Mutation_p.D160N|THEMIS_uc021zfa.1_Missense_Mutation_p.D257N|THEMIS_uc010kfb.3_Missense_Mutation_p.D222N	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	257	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000														3			49		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628605	20628605	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:20628605C>T	uc001mqd.3	+	3	1005	c.732C>T	c.(730-732)atC>atT	p.I244I	SLC6A5_uc009yic.3_Silent_p.I9I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	244					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTACCCATCTTCTTCTTGG	0.572000														58			21		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648722	20648723	+	Missense_Mutation	DNP	CC	TT	TT	rs142566677		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:20648722_20648723CC>TT	uc002dhm.1	-	7	1235_1236	c.1167_1168GG>AA	c.(1165-1170)atgggg>atAAgg	p.389_390MG>IR	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.389_390MG>IR	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	389					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTGGCCTTCCCCATGAAACCCG	0.535000														59			18		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853291	70853291	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:70853291C>T	uc003tvy.3	+	2	493	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	165	Catalytic subdomain A.					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)				GAACGAGGCCCTGTCGGTGAT	0.537000														44			57		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700163	241700163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:241700163G>A	uc010fzk.3	-	24	2610	c.2363C>T	c.(2362-2364)cCc>cTc	p.P788L	KIF1A_uc002vzy.3_Missense_Mutation_p.P779L|KIF1A_uc002vzz.2_Missense_Mutation_p.P788L	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	779					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)		GCGGGGGAAGGGCCGCGTCTC	0.652000														4			22		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504330	156504330	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156504330G>A	uc001fpf.3	-	28	3778	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1235					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTCATTCAGGACCCGTAGG	0.602000														4			25		0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750333	6750333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6750333C>T	uc002mfs.3	+	12	1492	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	TRIP10_uc010dux.2_Missense_Mutation_p.L420F|TRIP10_uc002mfr.3_Missense_Mutation_p.L420F|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	476	Interaction with CDC42.|Interaction with PDE6G (By similarity).|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGTCGAGTCCTTAGCAACCG	0.667000														76			66		0	0	1	0	0
ROPN1B	152015	broad.mit.edu	37	3	125691007	125691007	+	Missense_Mutation	SNP	G	A	A	rs146745880		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:125691007G>A	uc003eih.3	+	1	338	c.110G>A	c.(109-111)gGg>gAg	p.G37E	ROPN1B_uc010hsb.3_Missense_Mutation_p.G37E|ROPN1B_uc011bkg.2_Missense_Mutation_p.G37E	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA.	37	RIIa.				Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCAGTGGGGGGCCGAGTAC	0.617000														42			35		0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39132377	39132377	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39132377C>T	uc011anz.2	-	18	2205	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	SUN2_uc011aoa.2_Silent_p.T672T|SUN2_uc003awh.2_Silent_p.T683T|SUN2_uc010gxq.2_Silent_p.T704T|SUN2_uc003awi.2_Silent_p.T683T|SUN2_uc010gxr.2_Silent_p.T683T	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	683					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACGTGGCCATCGTAGGGGCCT	0.612000														31			10		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	985546	985546	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:985546T>G	uc001lst.2	+	7	1142	c.929T>G	c.(928-930)cTc>cGc	p.L310R	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.L309R	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	309					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATGCCGTGCTCTTCGAGGCC	0.577000														23			22		0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38150211	38150212	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:38150211_38150212CC>TT	uc004ded.1	-	13	1740	c.1572_splice	c.e13+1	p.K524_splice	RPGR_uc004deb.3_Splice_Site_p.K524_splice|RPGR_uc004dea.3_Splice_Site|RPGR_uc004dec.3_Splice_Site	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	524					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATATTATACCTTTTGTTTCT	0.267000														5			11		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073953	20073953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:20073953G>A	uc002zri.3	+	1	896	c.467G>A	c.(466-468)aGt>aAt	p.S156N	DGCR8_uc010grz.3_Missense_Mutation_p.S156N|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	156	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.S156S(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCTGTCAGTGGGGACGTG	0.587000														179			165		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772339	49772339	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:49772339C>T	uc001vcm.3	+	21	3017	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	FNDC3A_uc001vcn.3_Silent_p.S904S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Silent_p.S848S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	904	Fibronectin type-III 7.					Golgi membrane|integral to membrane		p.S904T(1)		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)		ATAAACAATCCCTAACAGTGG	0.373000														81			36		0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609844	60609844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:60609844G>A	uc001nqa.2	+	0	416	c.247G>A	c.(247-249)Ggg>Agg	p.G83R		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	83	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GTCACCCCAAGGGCAGCCAGA	0.657000														28			33		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66416533	66416533	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:66416533T>C	uc002jhc.2	+	11	2303	c.1507T>C	c.(1507-1509)Tac>Cac	p.Y503H	ARSG_uc010dex.1_Non-coding_Transcript	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	503					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCGCAGATTACACTCAGGA	0.527000														157			124		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100970981	100970981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:100970981G>A	uc011lvb.2	-	8	2299	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	TBC1D2_uc004ayp.3_Missense_Mutation_p.P247S|TBC1D2_uc004ayq.3_Missense_Mutation_p.P707S|TBC1D2_uc004ayr.3_Missense_Mutation_p.P489S	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	707	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCGATGGTGGGGTTCTGCCAG	0.602000														44			20		0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:35929739G>C	uc002xgu.3	+	2	285	c.73G>C	c.(73-75)Gga>Cga	p.G25R	MANBAL_uc002xgv.3_Missense_Mutation_p.G25R|MANBAL_uc002xgw.3_Non-coding_Transcript	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.	25						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597000														62			64		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318162	19318163	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:19318162_19318163GG>AA	uc010vyw.2	+	9	1319_1320	c.1088_1089GG>AA	c.(1087-1089)ggg>gAA	p.G363E	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G246E	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	363							GTP binding|GTPase activity|zinc ion binding	p.P362L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTGCCCCAGGGAGGCGGCGGA	0.634000														4			27		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11240222	11240222	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11240222T>A	uc002mqk.4	+	16	2610	c.2423T>A	c.(2422-2424)cTt>cAt	p.L808H	LDLR_uc010xlk.2_Missense_Mutation_p.L808H|LDLR_uc010xll.2_Missense_Mutation_p.L767H|LDLR_uc021upc.1_Missense_Mutation_p.L687H|LDLR_uc010xln.2_Missense_Mutation_p.L630H|LDLR_uc010xlo.2_Missense_Mutation_p.L640H|LDLR_uc010xlm.2_Missense_Mutation_p.L661H|LDLR_uc021upd.1_Missense_Mutation_p.L545H|LDLR_uc010dxu.3_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	808					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.F807F(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGGGTCTTCCTTCTATGGAAG	0.552000														37			47		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98559063	98559063	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:98559063C>T	uc003upp.3	+	44	6857	c.6648C>T	c.(6646-6648)ctC>ctT	p.L2216L	TRRAP_uc011kis.2_Silent_p.L2198L|TRRAP_uc003upr.3_Silent_p.L1915L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2216	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGCCTTCTCTCGCGCCTGA	0.562000														89			41		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184628	185184628	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185184628T>C	uc010hyf.3	+	10	1811	c.1520T>C	c.(1519-1521)gTg>gCg	p.V507A	MAP3K13_uc011brt.2_Missense_Mutation_p.V300A|MAP3K13_uc011bru.2_Missense_Mutation_p.V363A|MAP3K13_uc003fpi.3_Missense_Mutation_p.V507A|MAP3K13_uc010hyg.3_Missense_Mutation_p.V197A	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	507	Leucine-zipper 2.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCAAGCAGTGGAAAAGAAG	0.473000														105			4		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298473	75298473	+	Silent	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:75298473T>G	uc001owu.3	-	3	2138	c.2073A>C	c.(2071-2073)gcA>gcC	p.A691A		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	691	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CGTGAACCTTTGCATGCTCTG	0.473000														52			34		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916456	13916456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:13916456C>T	uc003bye.1	-	1	591	c.286G>A	c.(286-288)Gag>Aag	p.E96K		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	96					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						ACTTTGAGCTCCTTCCCGAAG	0.587000														2			24		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949076	96949076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:96949076G>A	uc002svu.3	-	33	4910	c.4778C>T	c.(4777-4779)aCc>aTc	p.T1593I	SNRNP200_uc002svt.3_Missense_Mutation_p.T203I|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_Missense_Mutation_p.T120I	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1593	Helicase C-terminal 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCCTTCTCGGTGCAGTGCAA	0.567000														13			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650595	179650595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179650595C>T	uc021vsy.1	-	13	2575	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	TTN_uc021vsz.1_Missense_Mutation_p.G738R|TTN_uc021vta.1_Missense_Mutation_p.G738R|TTN_uc021vtb.1_Missense_Mutation_p.G738R|TTN_uc002unb.2_Missense_Mutation_p.G784R|TTN_uc010frg.1_Missense_Mutation_p.G366R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	784							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G784R(3)|p.G738R(3)|p.G783A(1)		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)			ATGTGCATTCCCTTTTGATCA	0.463000														27			17		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517623	176517623	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:176517623C>T	uc003mfl.3	+	2	491	c.324C>T	c.(322-324)atC>atT	p.I108I	FGFR4_uc003mfm.3_Silent_p.I108I|FGFR4_uc011dfu.2_Silent_p.I108I|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.I108I|FGFR4_uc011dfw.1_Silent_p.I108I|FGFR4_uc003mfo.3_Silent_p.I108I	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	108	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCTCCATGATCGTCCTGCAGA	0.597000										TSP Lung(9;0.080)				8			26		0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239003128	239003128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:239003128C>T	uc010fyv.3	+	9	1204	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	SCLY_uc002vxm.4_Missense_Mutation_p.T325I|SCLY_uc010znr.2_Missense_Mutation_p.T264I|SCLY_uc010znq.2_Missense_Mutation_p.T152I	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	358					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CTTCCCAATACCTGTAACTTT	0.522000														95			11		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310230	24310230	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24310230C>A	uc002nru.3	+	3	1562	c.1428C>A	c.(1426-1428)acC>acA	p.T476T	ZNF254_uc010xrk.2_Silent_p.T391T	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	476					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTCCTCAACCCTAACTAGAC	0.393000														55			5		0.184627	0.18476	1	1	0
ZNF445	353274	broad.mit.edu	37	3	44490150	44490150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:44490150G>A	uc003cnf.2	-	7	1361	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	ZNF445_uc011azv.1_Missense_Mutation_p.S326L|ZNF445_uc011azw.1_Missense_Mutation_p.S338L	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGACATCCTGATGACACAGC	0.403000														8			33		0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41203369	41203370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:41203369_41203370GG>AA	uc004dfe.3	+	8	1707_1708	c.852_853GG>AA	c.(850-855)gaggaa>gaAAaa	p.E285K	DDX3X_uc010nhf.1_Missense_Mutation_p.E269K|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.E285K|DDX3X_uc011mkq.2_Missense_Mutation_p.E269K|DDX3X_uc011mkr.2_Missense_Mutation_p.E285K|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	285	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGATCTACGAGGAAGCCAGAAA	0.361000										HNSCC(61;0.18)				0			11		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568321	159568321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:159568321G>A	uc003ipz.3	+	15	1987	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	RXFP1_uc010iqk.3_Missense_Mutation_p.G443E|RXFP1_uc011cja.2_Missense_Mutation_p.G470E|RXFP1_uc010iqo.3_Missense_Mutation_p.G527E|RXFP1_uc011cjb.2_Missense_Mutation_p.G473E|RXFP1_uc011cjc.2_Missense_Mutation_p.G494E|RXFP1_uc011cjd.2_Missense_Mutation_p.G494E|RXFP1_uc010iql.3_Missense_Mutation_p.G419E|RXFP1_uc011cje.2_Missense_Mutation_p.G602E|RXFP1_uc010iqm.3_Missense_Mutation_p.G542E|RXFP1_uc011cjf.2_Missense_Mutation_p.G444E|RXFP1_uc010iqn.3_Missense_Mutation_p.G520E	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	575						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAAAGTATTGGAGCCCAGATT	0.333000														38			8		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957468	35957469	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:35957468_35957469GG>AA	uc003jjv.2	-	4	1089_1090	c.896_897CC>TT	c.(895-897)gcc>gTT	p.A299V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.A299V|UGT3A1_uc011cor.2_Missense_Mutation_p.A265V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	299						integral to membrane	glucuronosyltransferase activity	p.V298V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGAGCCAAAGGCCACAAGGAC	0.490000														10			32		0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5383874	5383874	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:5383874A>G	uc002gcc.1	-	4	369	c.356T>C	c.(355-357)tTc>tCc	p.F119S		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	119					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CTGGCCCAAGAAAACTAAGCT	0.443000														8			64		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4797541	4797541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:4797541C>T	uc002cxn.3	+	8	1940	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	493										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTCGACTCCCAAGAGGCAGG	0.637000														11			12		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36143317	36143317	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:36143317G>A	uc003jkb.1	-	1	550	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	45						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATAAGAAAGCAGAGATACC	0.343000														6			25		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940460	82940460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:82940460C>T	uc003kim.3	-	2	568	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	HAPLN1_uc003kin.3_Missense_Mutation_p.R166Q	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	166	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.R166Q(4)|p.P165Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCGCCCCAGTCGTGGAAAGTA	0.537000														6			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712259	140712259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140712259G>A	uc003lji.2	+	0	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D670N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	672	Cadherin 6.				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)			CAGGATCTCCGACATCCTGGC	0.697000														15			99		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:151900372G>A	uc022chj.1	-	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F143F|MAGEA12_uc022chi.1_Silent_p.F143F|MAGEA12_uc004fgc.3_Silent_p.F143F|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000														8			75		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724753	38724753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:38724753C>T	uc001wum.1	-	0	822	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	159	C-type lectin.					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)		CATCGCATCTCCTTCCAGCCT	0.677000														4			48		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61673497	61673497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:61673497G>A	uc003jsy.4	+	17	2118	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	KIF2A_uc003jsz.4_Missense_Mutation_p.V641I|KIF2A_uc003jsx.4_Missense_Mutation_p.V583I|KIF2A_uc010iwp.3_Missense_Mutation_p.V584I|KIF2A_uc010iwq.3_Missense_Mutation_p.V406I	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	603					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GGAAGAAGAAGTCTCTCCACA	0.284000														1			6		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10136028	10136028	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:10136028G>A	uc002raa.3	+	12	1692	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.P318P|GRHL1_uc010yjb.2_Silent_p.P356P	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	507					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAGGGGGCCGTACGGCACAG	0.468000														270			4		0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871954	149871954	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:149871954G>A	uc021oya.1	+	0	342	c.342G>A	c.(340-342)tgG>tgA	p.W114*	BOLA1_uc001etf.3_Nonsense_Mutation_p.W114*	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	Homo sapiens bolA homolog 1 (E. coli) (BOLA1), mRNA.	114						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCCCAGTGGAGAGAGAACT	0.657000														50			24		0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16109925	16109925	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:16109925G>A	uc001rde.3	+	1	219	c.87G>A	c.(85-87)gcG>gcA	p.A29A	DERA_uc010shx.1_5'UTR	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	Homo sapiens deoxyribose-phosphate aldolase (putative) (DERA), mRNA.	29					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TGAGGCGTGCGGAACAAATCC	0.443000														41			6		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47656987	47656987	+	Nonsense_Mutation	SNP	C	T	T	rs63750302		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:47656987C>T	uc002rvy.1	+	6	1251	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	MSH2_uc010yoh.1_Nonsense_Mutation_p.Q329*|MSH2_uc002rvz.3_Nonsense_Mutation_p.Q395*|MSH2_uc010fbg.2_Nonsense_Mutation_p.Q205*	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	395					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAGTTTCAAAGACAAGC	0.378000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					15			57		0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6147560	6147560	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:6147560C>T	uc009vlv.2	+	7	903	c.360C>T	c.(358-360)ttC>ttT	p.F120F	KCNAB2_uc001alv.2_Silent_p.F120F|KCNAB2_uc001alw.2_Silent_p.F106F|KCNAB2_uc001alx.2_Silent_p.F120F|KCNAB2_uc001aly.2_Silent_p.F153F|KCNAB2_uc009vlw.2_Silent_p.F53F|KCNAB2_uc001alu.3_Silent_p.F120F	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	120						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGATCTTCTGGGGCGGAA	0.642000														50			52		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:42821111C>T	uc010goq.3	+	11	1667	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_uc002yzh.3_Missense_Mutation_p.R441C|MX1_uc002yzi.3_Missense_Mutation_p.R441C	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000														40			49		0	0	1	0	0
CCL22	6367	broad.mit.edu	37	16	57397450	57397450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:57397450G>A	uc002elh.3	+	2	266	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_002990	NP_002981	O00626	CCL22_HUMAN	Homo sapiens chemokine (C-C motif) ligand 22 (CCL22), mRNA.	78					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GATCTGTGCCGATCCCAGAGT	0.542000														45			13		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150745996	150745996	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150745996G>A	uc003wio.2	+	0	392	c.24G>A	c.(22-24)gaG>gaA	p.E8E	ASIC3_uc003win.2_Silent_p.E8E|ASIC3_uc003wip.2_Silent_p.E8E|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	8					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CAGGCCCAGAGGAGGCCCGGC	0.672000														101			33		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366836	248366836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248366836G>A	uc010pzg.2	+	0	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TCTACGGATGGAATTATTGAT	0.463000														65			68		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459677	92459677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:92459677C>T	uc002bqx.2	+	1	836	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S212L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S154L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AAGGACTCCTCGCTCTATATA	0.587000														3			10		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446942	226446942	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:226446942A>C	uc002voe.2	+	3	984	c.809A>C	c.(808-810)gAa>gCa	p.E270A	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.E40A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	270																	GTCTACGAGGAAATGAAGTAC	0.552000														13			79		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249481	110249481	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:110249481T>C	uc004bdh.3	-	2	1788	c.1167A>G	c.(1165-1167)tcA>tcG	p.S389S	KLF4_uc004bdf.2_Intron|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Intron	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	398	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCTCTAGGGGTGAAGAAGGTG	0.627000														50			5		0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27346828	27346828	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:27346828C>A	uc002rit.3	+	0	172	c.12C>A	c.(10-12)tcC>tcA	p.S4S	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript|ABHD1_uc002riw.3_Silent_p.S4S	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	4						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAGCTCCTTCCTGAGCC	0.637000														69			6		5.18039e-06	5.22541e-06	1	1	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52883814	52883814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:52883814C>T	uc003dgc.4	-	3	552	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.E141K	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		TTACCATATTCGCCGAAGCGC	0.627000														9			39		0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36483943	36483943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36483943C>T	uc001mwo.4	+	8	1153	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PRR5L_uc001mwp.3_Missense_Mutation_p.S255F|PRR5L_uc009ykk.3_Missense_Mutation_p.S127F|PRR5L_uc010rfc.2_3'UTR	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	255										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AACTATGCCTCCCCGATAACC	0.587000														70			27		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264455	75264455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:75264455C>T	uc001xqj.4	+	4	2579	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	624	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCAGCATCTCAATTTTATAT	0.537000														5			27		0	0	1	0	0
PKIA	5569	broad.mit.edu	37	8	79514046	79514046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:79514046C>T	uc003yba.3	+	3	745	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PKIA_uc003ybb.3_Missense_Mutation_p.S74F|PKIA_uc010lzo.3_Missense_Mutation_p.S74F	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	74							cAMP-dependent protein kinase inhibitor activity	p.S74S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GCAGCAAAATCTGAAAGCTAA	0.433000														15			9		0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33529574	33529574	+	Missense_Mutation	SNP	G	A	A	rs113191242		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33529574G>A	uc002xbg.3	-	5	630	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	GSS_uc010zun.2_Missense_Mutation_p.P56S|GSS_uc010zuo.2_Intron|GSS_uc010zup.2_Missense_Mutation_p.P115S|GSS_uc010gez.1_Intron	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	184					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCCTTGCTGGGATTATTAGAG	0.498000														50			41		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429244	48429244	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48429244G>A	uc001jfb.3	-	1	1070	c.642C>T	c.(640-642)cgC>cgT	p.R214R	GDF10_uc009xnp.3_Silent_p.R213R|GDF10_uc009xnq.2_Silent_p.R214R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	214					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						CGCCATCCCGGCGGGCCGCCT	0.721000														13			17		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763691	36763691	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:36763691G>A	uc022abu.1	-	0	464	c.63C>T	c.(61-63)tcC>tcT	p.S21S	AOAH_uc003tfh.4_Silent_p.S21S|AOAH_uc011kba.2_Silent_p.S21S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	21					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAGAGGCCGAGGACTGAAGAG	0.517000														22			30		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331055	140331055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:140331055G>A	uc004cmw.3	-	5	888	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ENTPD8_uc004cmx.3_Missense_Mutation_p.S235F|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	235						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGTAGTCGGAGCCGTAGAG	0.637000														9			6		0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51582882	51582882	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:51582882A>G	uc001jis.4	+	6	860	c.657A>G	c.(655-657)atA>atG	p.I219M	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.I235M|NCOA4_uc010qhd.2_Missense_Mutation_p.I235M|NCOA4_uc010qhe.2_Missense_Mutation_p.I119M|NCOA4_uc010qhf.2_Missense_Mutation_p.I53M|NCOA4_uc001jit.3_Missense_Mutation_p.I219M|NCOA4_uc009xoo.3_Missense_Mutation_p.I219M	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	219					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTCCTTACATACCCAGCACCG	0.483000			T	RET	papillary thyroid									37			7		0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	764334	764334	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:764334C>T	uc001lqz.3	+	6	932	c.882C>T	c.(880-882)ttC>ttT	p.F294F	TALDO1_uc001lra.3_Missense_Mutation_p.S293F	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	294					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		AGAAGTCTTTCCGTTGGTTGC	0.572000														34			27		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121107	124121107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:124121107C>T	uc001pzx.3	+	0	685	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCTCCACATTCGCTCCACTGA	0.463000														3			19		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157766891	157766891	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157766891C>T	uc001frg.3	-	10	1331	c.1218_splice	c.e10+1	p.K406_splice	FCRL1_uc001frf.3_Splice_Site|FCRL1_uc001frh.3_Splice_Site_p.K405_splice|FCRL1_uc001fri.3_Splice_Site_p.R364_splice|FCRL1_uc001frj.3_Splice_Site	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	406						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGACTCTTACCTTGTCCTCCA	0.393000														34			36		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800618	153800618	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:153800618C>A	uc001fdb.4	-	1	450	c.206G>T	c.(205-207)gGc>gTc	p.G69V		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	69						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACACCACTGCCATCCTGTTT	0.478000														138			10		1.5842e-08	1.60494e-08	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432921	104432921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:104432921C>T	uc004bbp.2	-	2	2374	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M591I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	591					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCAAAGTTCATGTCTTCTG	0.448000														12			3		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423088	33423089	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33423088_33423089CC>TT	uc003oeq.3	+	1	479_480	c.211_212CC>TT	c.(211-213)cct>TTt	p.P71F	ZBTB9_uc021ywp.1_Missense_Mutation_p.P71F	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	71	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTGCCTCTCCTTACTTCCAT	0.554000														343			93		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38370059	38370059	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38370059T>C	uc003aun.1	-	3	1122	c.844A>G	c.(844-846)Agc>Ggc	p.S282G	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.S282G	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	282						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					ACCTCGTGGCTGATCTCACCA	0.617000														335			10		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835108	12835108	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12835108G>T	uc001aui.3	+	0	125	c.98G>T	c.(97-99)aGg>aTg	p.R33M		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	33								p.P32R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCCCAGGGAGCTCTTT	0.622000														53			48		2.69953e-25	2.77115e-25	1	1	0
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32154610C>T	uc003oav.1	-	6	1364	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	AGER_uc021yvm.1_5'Flank|AGER_uc021yvn.1_5'Flank|AGER_uc010jtw.2_5'Flank|AGER_uc021yvp.1_5'Flank|AGER_uc021yvq.1_5'Flank|AGER_uc011dpn.2_5'Flank|AGER_uc011dpm.2_5'Flank|AGER_uc003oap.2_5'Flank|AGER_uc021yvr.1_5'Flank|AGER_uc003oam.2_5'Flank|AGER_uc003oau.2_5'Flank|AGER_uc003oas.2_5'Flank|AGER_uc003oal.2_5'Flank|AGER_uc010jtv.2_5'Flank|AGER_uc003oar.3_5'Flank|AGER_uc003oaq.2_5'Flank|AGER_uc003oat.2_5'Flank|AGER_uc003oan.2_5'Flank|AGER_uc011dpo.2_5'Flank|AGER_uc003oao.2_5'Flank|AGER_uc021yvo.1_5'Flank|AGER_uc011dpp.2_5'Flank|AGER_uc011dpq.2_5'Flank|AGER_uc011dpr.2_5'Flank|AGER_uc011dps.2_5'Flank	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	365							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512000														46			49		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9009896	9009896	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:9009896G>A	uc001quz.4	+	23	3083	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	A2ML1_uc001qva.1_Silent_p.T575T|A2ML1_uc010sgm.2_Silent_p.T495T	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	839						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCTGCTGACGGAGGAGATCA	0.522000														116			77		0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45422430	45422430	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45422430G>T	uc002pac.1	+	5	447	c.195_splice	c.e5-1	p.R65_splice	APOC1_uc002pad.1_Splice_Site_p.R65_splice|APOC1_uc002pae.1_Splice_Site_p.R65_splice|APOC1_uc002paf.1_Splice_Site	NM_001645	NP_001636	P02654	APOC1_HUMAN	Homo sapiens apolipoprotein C-I (APOC1), mRNA.	65					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		CTCCCCACAGGGAGTGGTTTT	0.522000														163			150		7.77156e-87	8.0191e-87	1	1	0
CD22	933	broad.mit.edu	37	19	35827096	35827096	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:35827096G>A	uc010edt.3	+	3	654	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CD22_uc010edu.3_Silent_p.S190S|CD22_uc010edv.3_Silent_p.S190S|CD22_uc002nzb.4_Silent_p.S190S|CD22_uc010xst.2_Silent_p.S18S|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	190	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGTCACCTCGACCTCCTTGA	0.547000														45			36		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33282828	33282828	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33282828G>A	uc001bvy.1	-	0	806	c.18C>T	c.(16-18)agC>agT	p.S6S	S100PBP_uc001bvz.3_5'Flank|S100PBP_uc001bwa.1_5'Flank|S100PBP_uc001bwb.1_5'Flank|S100PBP_uc001bwc.3_5'Flank	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	6					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TCTCTTCAGGGCTGGGAGCGT	0.652000														80			43		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911860	53911860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53911860G>A	uc010ydx.2	+	5	1379	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	ZNF765_uc002qbm.3_Missense_Mutation_p.G351E|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTTCATACTGGAGAGAAACCT	0.423000														154			4		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147811	44147811	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:44147811G>A	uc003owt.1	+	13	1589	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	CAPN11_uc011dvn.2_Silent_p.G171G	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	517	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			TGCCTCCGGGGGAATATATCA	0.532000														45			49		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009192	201009192	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:201009192G>T	uc001gvv.3	-	43	5616	c.5389C>A	c.(5389-5391)Ctg>Atg	p.L1797M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1797					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGGTGCCCAGGCCCCCTCGA	0.602000														66			28		3.6622e-26	3.76213e-26	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	G	G	rs1808125	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:32031962A>G	uc011axg.2	+	1	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R	ZNF860_uc021wuv.1_Missense_Mutation_p.H464R	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000														86			7		0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63426317	63426317	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:63426317G>A	uc001nxk.1	-	2	597	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ATL3_uc010rms.1_Silent_p.S89S	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	107					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCCCTCTCCAGGAAAATCCTG	0.403000														88			42		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950337	235950337	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:235950337T>C	uc002vvp.3	+	3	1317	c.924T>C	c.(922-924)ggT>ggC	p.G308G	SH3BP4_uc010fym.3_Silent_p.G308G|SH3BP4_uc002vvq.3_Silent_p.G308G	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGCCCTGGTTGGGGCCAGA	0.592000														48			8		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073356	17073356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:17073356C>T	uc002zlp.1	-	0	345	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	29					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.E28G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCTCCTCCTCTTCTGGA	0.662000														59			44		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50103127	50103127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50103127C>T	uc002poo.4	+	4	4277	c.4277C>T	c.(4276-4278)cCc>cTc	p.P1426L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	605							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTTGGCCCCCGCGGCTGCA	0.667000														38			19		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998534	144998534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:144998534C>T	uc003zaf.1	-	30	6144	c.5974G>A	c.(5974-5976)Gcg>Acg	p.A1992T	PLEC_uc003zab.1_Missense_Mutation_p.A1855T|PLEC_uc003zac.1_Missense_Mutation_p.A1859T|PLEC_uc003zad.2_Missense_Mutation_p.A1855T|PLEC_uc003zae.1_Missense_Mutation_p.A1823T|PLEC_uc003zag.1_Missense_Mutation_p.A1833T|PLEC_uc003zah.2_Missense_Mutation_p.A1841T|PLEC_uc003zaj.2_Missense_Mutation_p.A1882T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1992	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTGAGCGCGATCTCCGCC	0.736000														28			3		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47977514	47977514	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:47977514C>T	uc002zjo.2	+	30	3829	c.3646C>T	c.(3646-3648)Caa>Taa	p.Q1216*	DIP2A_uc011afz.1_Nonsense_Mutation_p.Q1212*|DIP2A_uc002zjr.3_Nonsense_Mutation_p.Q183*	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1216					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCGGGACACCAATCAGTGCT	0.637000														67			25		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60864340	60864340	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:60864340C>T	uc002yck.1	+	11	1405	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D	OSBPL2_uc002ycl.1_Silent_p.D389D|OSBPL2_uc011aah.1_Intron	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	401					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACCCACGGACTGCCGCCTGC	0.597000														21			16		0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452425	6452425	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6452425C>T	uc002mex.1	-	7	1111	c.969G>A	c.(967-969)agG>agA	p.R323R	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Intron	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	323					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCAGGATACGCCTGGCGCAGT	0.652000														12			15		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25270530	25270530	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:25270530G>A	uc003abg.2	+	12	1597	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Silent_p.P480P|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	480						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCAAGCCCGAAGGAGCAGC	0.632000														10			9		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16503152	16503152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:16503152G>A	uc002ndx.3	-	18	2072	c.2066C>T	c.(2065-2067)tCg>tTg	p.S689L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.S579L|EPS15L1_uc002ndz.1_Missense_Mutation_p.S689L|EPS15L1_uc010xpf.1_Missense_Mutation_p.S592L|EPS15L1_uc002nea.1_Missense_Mutation_p.S689L|EPS15L1_uc010eah.1_Missense_Mutation_p.S691L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	689	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GAATGGATCCGAGGTAAATGG	0.537000														49			40		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768115	57768115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57768115C>T	uc002yan.3	+	0	2041	c.2041C>T	c.(2041-2043)Cat>Tat	p.H681Y		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	681						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCCCTGTCCATGAGGACAT	0.617000														13			11		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918231	39918231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39918231C>T	uc003axz.3	+	2	960	c.680C>T	c.(679-681)tCc>tTc	p.S227F	ATF4_uc011aol.1_Missense_Mutation_p.S139F|ATF4_uc003aya.3_Missense_Mutation_p.S227F	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	227					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AGCCCAGAGTCCTATCTGGGG	0.542000														13			8		0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89759817	89759817	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89759817C>T	uc010cio.3	+	7	593	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	CDK10_uc010cip.2_3'UTR|CDK10_uc010vpl.1_3'UTR|CDK10_uc002fob.2_Intron|CDK10_uc002fod.3_Silent_p.L113L|CDK10_uc002foe.3_Silent_p.L113L|CDK10_uc002fof.3_Silent_p.L113L|CDK10_uc002fog.4_Silent_p.L113L|CDK10_uc002foh.4_Silent_p.L113L|CDK10_uc002foi.3_5'Flank	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	184	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGATTTCGGCCTGGCCCGGGC	0.607000														82			40		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201779105	201779106	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:201779105_201779106CC>TT	uc021phi.1	+	22	4780_4781	c.4433_4434CC>TT	c.(4432-4434)acc>aTT	p.T1478I	NAV1_uc001gwu.3_Missense_Mutation_p.T1475I|NAV1_uc001gwx.3_Missense_Mutation_p.T1084I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1478					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAGCCTCTACCCTGGGACTAA	0.485000														77			25		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17434589	17434589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:17434589C>T	uc002wpm.3	+	8	1442	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	PCSK2_uc002wpl.3_Missense_Mutation_p.P344L|PCSK2_uc010zrm.2_Missense_Mutation_p.P328L	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	363	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.N362K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAGGAACCCCGAGGCCGGT	0.602000														29			30		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29737602	29737602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:29737602C>T	uc003afj.3	-	12	1871	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	AP1B1_uc003afl.3_Missense_Mutation_p.E562K|AP1B1_uc003afi.3_Missense_Mutation_p.E562K|AP1B1_uc011ako.2_Missense_Mutation_p.E115K	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	562					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	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGATAAGCTCGTCTAACAGT	0.617000														147			19		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5372023	5372023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:5372023G>A	uc002gca.3	-	0	358	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	DHX33_uc002gcb.3_5'UTR|DHX33_uc010clf.3_Missense_Mutation_p.P112S	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	53						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGGGCGGCTGCTGCCTC	0.711000														27			3		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7230914	7230914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7230914G>A	uc002gga.1	-	1	579	c.572C>T	c.(571-573)gCc>gTc	p.A191V	GPS2_uc002ggb.1_Missense_Mutation_p.A191V|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTCCACGACGGCCCAGACACG	0.677000														3			28		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372715	180372715	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:180372715C>T	uc010hxe.3	-	6	880	c.765G>A	c.(763-765)acG>acA	p.T255T	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	255					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.I255M(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTCTCTCGTTTCCTGCT	0.289000														8			3		0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036535	33036535	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33036535G>A	uc003ocs.2	-	3	782	c.675C>T	c.(673-675)ctC>ctT	p.L225L	HLA-DPA1_uc021ywg.1_Silent_p.L225L|HLA-DPA1_uc021ywh.1_Silent_p.L225L|HLA-DPA1_uc010juk.3_Silent_p.L225L	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	225					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCAGGGCACAGAGCACAGTCT	0.612000														46			71		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149908	27149908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:27149908C>T	uc011jzl.2	-	1	552	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	HOXA3_uc003syk.3_Missense_Mutation_p.A118T	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	118	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						ggcgggggcgcggcaggggta	0.736000														17			7		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676500	64676500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64676500G>A	uc001obx.3	-	15	2442	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	776							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGAGGAGAAGGGCGAGGGCTC	0.642000														5			11		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353837	172353837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:172353837G>A	uc011bpx.2	-	3	736	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	NCEH1_uc003fig.3_Missense_Mutation_p.H192Y|NCEH1_uc011bpw.2_Missense_Mutation_p.H27Y|NCEH1_uc011bpy.2_Missense_Mutation_p.H27Y	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	160					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						ACAACATCATGAATTTGCTCA	0.393000														99			77		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762910	13762910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13762910C>T	uc003jfd.2	-	59	10244	c.10202G>A	c.(10201-10203)gGa>gAa	p.G3401E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3401	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTACATTTCCACATACGCG	0.408000									Kartagener syndrome					45			5		0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646406	150646406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:150646406C>T	uc003ltr.4	+	2	523	c.358C>T	c.(358-360)Cct>Tct	p.P120S	GM2A_uc011dcr.2_Missense_Mutation_p.P120S|GM2A_uc003ltt.1_Missense_Mutation_p.P52S	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	120						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTAATTCCTACTGGGGA	0.532000														15			60		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161528978	161528978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:161528978G>A	uc003qtn.3	+	20	4238	c.4096G>A	c.(4096-4098)Ggg>Agg	p.G1366R	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1362R|MAP3K4_uc003qto.3_Missense_Mutation_p.G1316R|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.G819R|MAP3K4_uc003qtp.3_Missense_Mutation_p.G302R|MAP3K4_uc003qtq.3_Missense_Mutation_p.G55R	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1366	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTCGACACCGGGGAGCTGAT	0.577000														41			12		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648171	134648171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:134648171G>A	uc021qbc.1	-	47	6954	c.6853C>T	c.(6853-6855)Ctc>Ttc	p.L2285F		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	446										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCTTGGAGAGGCTGAGCAGG	0.642000														13			13		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				97			145		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827385	96827385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:96827385G>A	uc001kkb.3	-	1	327	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	CYP2C8_uc010qoa.2_Missense_Mutation_p.H8Y|CYP2C8_uc010qoc.2_Intron|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_Missense_Mutation_p.H8Y|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	78					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCATATCCATGAAACACCACT	0.418000														21			20		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484712	484712	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:484712G>A	uc003jbe.2	-	4	967	c.855C>T	c.(853-855)atC>atT	p.I285I	SLC9A3_uc011clx.1_Silent_p.I285I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	285						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCCGGGCTCGATGATACGCA	0.622000														63			6		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792410	23792410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:23792410G>A	uc003sws.4	+	8	1159	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	STK31_uc003swt.4_Missense_Mutation_p.M341I|STK31_uc011jze.2_Missense_Mutation_p.M364I|STK31_uc010kuq.3_Missense_Mutation_p.M341I	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M364I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACCAGAATGAAAAATCTGG	0.338000														44			14		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749088	22749088	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:22749088C>T	uc003gqp.4	+	2	547	c.456C>T	c.(454-456)acC>acT	p.T152T	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Silent_p.T153T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	152					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTTCAGTACCTTTGGGGATC	0.423000														22			42		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103339354	103339354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:103339354G>A	uc001phn.1	+	88	12851	c.12707G>A	c.(12706-12708)gGa>gAa	p.G4236E	DYNC2H1_uc009yxe.1_Missense_Mutation_p.G842E|DYNC2H1_uc001pho.2_Missense_Mutation_p.G4229E	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4229					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTTTGATGGAAATCAACTT	0.388000														2			19		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196797325	196797325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:196797325G>A	uc001gtn.3	+	3	670	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.E90K	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	186	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTTGGGGATGAAGAAGTGAT	0.378000														109			42		0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132598	58132598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:58132598C>T	uc002qpn.2	+	2	1210	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	ZNF134_uc002qpo.2_Missense_Mutation_p.P198S|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGTGAAAGGCCTTTTGTGTG	0.453000														29			15		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836465	47836465	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:47836465C>T	uc002zji.4	+	29	6740	c.6633C>T	c.(6631-6633)ccC>ccT	p.P2211P	PCNT_uc002zjj.3_Silent_p.P2093P	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2211					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGCTGGGCCCCGGAAGAGCC	0.617000														56			39		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150480	120150480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120150480C>T	uc001txj.2	-	35	4656	c.4600G>A	c.(4600-4602)Gaa>Aaa	p.E1534K	CIT_uc001txh.2_Missense_Mutation_p.E1011K|CIT_uc001txi.2_Missense_Mutation_p.E1492K	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1492	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCTCAAATTCTTCCACCGGC	0.522000														37			33		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178540923	178540923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:178540923C>T	uc003mjw.3	-	21	3683	c.3581G>A	c.(3580-3582)aGa>aAa	p.R1194K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1194					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)		CTCTTGGATTCTTTGGTTTCT	0.438000														14			72		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6554674	6554674	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:6554674G>A	uc003zkc.3	-	18	2503	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	770					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTTACACTCCGATGGGCCCCA	0.527000														1			11		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742681	23742681	+	RNA	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:23742681C>T	uc002zxa.4	-	2		c.455G>A			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		CCCCCGGGCCCATAGTCAGGG	0.622000														7			11		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017886	75017886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:75017886G>A	uc001xqa.3	-	6	1954	c.1567C>T	c.(1567-1569)Ctc>Ttc	p.L523F		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	523					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGTCCCAGAGGCTGTGGCCA	0.706000														3			31		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122568	53122568	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:53122568G>A	uc001cuf.3	+	2	529	c.429G>A	c.(427-429)caG>caA	p.Q143Q	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	143						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAACCCGCAGCTGGAGAGCA	0.572000														84			43		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88206201	88206201	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:88206201G>A	uc001kdn.3	-	16	3240	c.3231C>T	c.(3229-3231)ttC>ttT	p.F1077F	WAPAL_uc009xsv.3_Silent_p.F299F|WAPAL_uc001kdo.3_Silent_p.F1040F|WAPAL_uc009xsw.3_Silent_p.F1034F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1040	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTCGCTCAAGGAATAGCTGAT	0.368000														13			5		0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156180108	156180108	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156180108C>T	uc009wrr.3	+	3	1177	c.855C>T	c.(853-855)ggC>ggT	p.G285G	SLC25A44_uc001fnp.3_Silent_p.G277G|SLC25A44_uc010phc.2_Silent_p.G254G|SLC25A44_uc010phd.2_Non-coding_Transcript|SLC25A44_uc010phe.2_Non-coding_Transcript|PMF1-BGLAP_uc009wru.2_5'Flank|PMF1-BGLAP_uc001fnr.3_5'Flank|PMF1-BGLAP_uc001fnq.3_5'Flank|PMF1-BGLAP_uc021pba.1_5'Flank|PMF1-BGLAP_uc021pbb.1_5'Flank|PMF1-BGLAP_uc021pbc.1_5'Flank|PMF1-BGLAP_uc001fns.2_5'Flank|PMF1-BGLAP_uc021pbd.1_5'Flank	NM_014655	NP_055470	Q96H78	S2544_HUMAN	Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA.	277					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCATGAAGGGCCTCTCGGCCA	0.547000														17			37		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160969557	160969557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:160969557G>A	uc003qtl.3	-	31	5228	c.5108C>T	c.(5107-5109)cCt>cTt	p.P1703L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4211	Kringle 15.				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)	GACAGTCGGAGGAGCGACCAC	0.537000														10			44		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52162882	52162882	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52162882C>T	uc001ryw.3	+	16	3313	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	SCN8A_uc010snl.2_Silent_p.I1045I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1045					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAACTGTATCGCCAATCACA	0.522000														6			7		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172434497	172434497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:172434497C>T	uc001gik.3	+	5	598	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	134										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGATGACATCCCAACAGGTTT	0.353000														20			21		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460519	1460519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:1460519G>A	uc002wfg.2	-	1	505	c.277C>T	c.(277-279)Cct>Tct	p.P93S	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	93	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTACCCCAGGGAAGGAGCCA	0.468000														51			41		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703748	3703748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:3703748C>T	uc001akx.1	-	1	770	c.742G>A	c.(742-744)Ggc>Agc	p.G248S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	248					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTCTGGCAGCCGCTGACCATC	0.637000														79			3		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654498	31654498	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:31654498C>T	uc002ynv.3	-	0	779	c.753G>A	c.(751-753)ctG>ctA	p.L251L		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	251	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATAGCATTTCAGAGGTCTGC	0.428000														77			8		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124333348	124333348	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124333348C>T	uc001uft.4	+	32	5692	c.5667C>T	c.(5665-5667)atC>atT	p.I1889I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1889	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAATCGAATCGATGCTTCTG	0.532000														12			7		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70562809	70562809	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:70562809G>T	uc002ezf.3	+	2	315	c.104G>T	c.(103-105)gGg>gTg	p.G35V	SNORD111B_uc010cfv.2_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	35					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTTTCCCGTGGGAAGATCTTG	0.478000														53			13		6.49762e-13	6.6309e-13	1	1	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:117962701G>A	uc001two.2	-	13	2143	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000														24			22		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445814	99445814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:99445814G>A	uc003ury.1	+	5	561	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CYP3A43_uc003urx.1_Missense_Mutation_p.G153E|CYP3A43_uc003urz.1_Missense_Mutation_p.G153E|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Nonsense_Mutation_p.W15*	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	153			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCCAATGTGGAGATATGTTG	0.473000														23			30		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21229140	21229140	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:21229140G>A	uc002kun.3	-	1	194	c.39C>T	c.(37-39)gcC>gcT	p.A13A	ANKRD29_uc002kuo.3_Silent_p.A13A	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	13										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGCAGCATTGGCAAGTGGAG	0.488000														10			8		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306379	109306379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109306379G>A	uc010sxh.1	-	15	1589	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	527						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACCATCTCCTGGCCCCACTCC	0.612000														164			99		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	A	A	rs28934573		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7577559G>A	uc002gim.2	-	6	916	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.3_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				9			70		0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709494	24709494	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24709494T>C	uc001woa.4	-	6	1446	c.1104A>G	c.(1102-1104)ttA>ttG	p.L368L	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Silent_p.L333L|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	368					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGAGGTAATAATGATAGTC	0.498000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					8			78		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710685	117710685	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117710685G>A	uc003pxp.1	-	11	1786	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	529					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)		CACATCCCACGATGAATTCAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									3			48		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50464741	50464741	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:50464741G>A	uc001vdk.2	+	0	197	c.15G>A	c.(13-15)ggG>ggA	p.G5G						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AGGAGCCCGGGGCTACCCCTC	0.617000														12			3		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203522	26203522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:26203522G>A	uc002rgu.2	-	0	1922	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.P422L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	422					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCTCAGGGTACCCAGG	0.662000														13			82		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084702	152084702	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152084702G>C	uc009wne.1	-	2	1263	c.991C>G	c.(991-993)Cag>Gag	p.Q331E	TCHH_uc001ezp.2_Missense_Mutation_p.Q331E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	331	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctgctgctcgcgc	0.697000														67			3		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7895940	7895940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:7895940C>T	uc003jed.3	+	11	1762	c.1732C>T	c.(1732-1734)Ccg>Tcg	p.P578S	MTRR_uc003jee.4_Missense_Mutation_p.P551S|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	578					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding	p.P578Q(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGCATAGCCCCGTTTATTGG	0.408000														13			81		0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475737	238475737	+	Silent	SNP	G	A	A	rs145946342	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:238475737G>A	uc010znl.2	+	1	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	61						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CAACCCTGGGGGACGTCCCCA	0.647000														37			18		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168027	7168027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7168027G>A	uc002mgd.1	-	6	1671	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	INSR_uc002mge.1_Missense_Mutation_p.P521L|INSR_uc002mgf.3_Missense_Mutation_p.P521L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	521					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)	GAAGTCGGGGGGCCAGTACGG	0.478000														35			12		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25481291	25481291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:25481291C>T	uc001upt.4	-	5	1268	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	339					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AAGTAATCTTCAAAGGTCTGT	0.338000														36			5		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023728	62023728	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:62023728G>A	uc001jky.3	-	5	902	c.564C>T	c.(562-564)gtC>gtT	p.V188V	ANK3_uc010qih.2_Silent_p.V171V|ANK3_uc001jkz.4_Silent_p.V182V|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	188					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						GGAGCGAAACGACTTGGTCGT	0.507000														21			9		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041138	87041138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:87041138G>A	uc009wcs.3	+	10	1851	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	CLCA4_uc009wct.3_Missense_Mutation_p.D366N|CLCA4_uc009wcu.3_Missense_Mutation_p.D423N	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	603						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATGAATAAGGACGTAAACAG	0.403000														27			29		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133291	42133291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42133291G>A	uc010xwd.1	-	0	152	c.41C>T	c.(40-42)cCc>cTc	p.P14L	CEACAM4_uc002orh.1_Missense_Mutation_p.P14L	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	14						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCCCTGCCAGGGCCTGTGCCC	0.652000														24			17		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32140250	32140250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:32140250G>A	uc001rks.3	+	4	5494	c.5080G>A	c.(5080-5082)Gag>Aag	p.E1694K		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1694										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGACAGCCAAGAGAGAGGTAA	0.294000														15			12		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22923846	22923846	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:22923846A>G	uc001bfx.1	+	9	1932	c.1807A>G	c.(1807-1809)Aag>Gag	p.K603E		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	603						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCCCGGGAAAGCTCCCAGA	0.642000														79			38		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18661787	18661787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:18661787C>T	uc002gul.3	+	5	1721	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	FBXW10_uc002guj.3_Missense_Mutation_p.L468F|FBXW10_uc002guk.3_Missense_Mutation_p.L468F|FBXW10_uc010cqh.2_Missense_Mutation_p.L468F	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	468										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGAAAACTTTCTCCTAAGCGG	0.527000														45			6		0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64095131	64095131	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:64095131C>T	uc010ooz.2	+	1	581	c.336C>T	c.(334-336)ctC>ctT	p.L112L	PGM1_uc001dbh.3_Silent_p.L94L|PGM1_uc010ooy.2_5'UTR	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	94					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGGAATCCTCTCCACCCCTG	0.473000														68			116		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74483560	74483560	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:74483560G>A	uc002axj.3	-	9	1290	c.930C>T	c.(928-930)ttC>ttT	p.F310F	STRA6_uc002axi.3_Silent_p.F80F|STRA6_uc010ulh.2_Silent_p.F309F|STRA6_uc002axk.3_Silent_p.F271F|STRA6_uc002axl.3_Silent_p.F203F|STRA6_uc010bji.3_Silent_p.F271F|STRA6_uc021sqg.1_Silent_p.F286F|STRA6_uc002axm.3_Silent_p.F271F|STRA6_uc002axn.3_Silent_p.F262F|STRA6_uc010uli.2_Silent_p.F308F|STRA6_uc010bjj.1_Intron	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	271					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCCAGGACAGGAAGCCATGCT	0.637000														7			33		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995477	140995477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140995477C>T	uc004fbt.3	+	3	2611	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P422S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	763							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGAGTCCTCAGAGTCC	0.542000										HNSCC(15;0.026)				13			95		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051524	38051524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38051524C>T	uc003ati.3	+	17	2677	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	647					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCCGGCCTCCCCAGGTCCAGC	0.706000														18			6		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713187	189713187	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:189713187G>A	uc011bsk.2	-	1	913	c.525C>T	c.(523-525)ttC>ttT	p.F175F	LEPREL1_uc003fsg.3_5'UTR	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	175					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTAGCCACGAAAAATGTGT	0.433000														42			29		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007824	11007825	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:11007824_11007825GG>AA	uc010oao.2	-	11	2367_2368	c.2367_2368CC>TT	c.(2365-2370)ctccag>ctTTag	p.Q790*	C1orf127_uc001ars.2_Nonsense_Mutation_p.Q625*|C1orf127_uc001arr.2_Nonsense_Mutation_p.Q633*	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	641										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCTCCTGCTGGAGTGAGGCCC	0.629000														20			8		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375669	93375669	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:93375669G>A	uc022bjs.1	-	0	441	c.441C>T	c.(439-441)ttC>ttT	p.F147F	DIRAS2_uc004aqx.1_Silent_p.F147F	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	147					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGTCTCCATGAAGGCACACT	0.602000														50			9		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33067434	33067434	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33067434G>A	uc010geu.1	+	19	1974	c.1782_splice	c.e19-1	p.R594_splice	ITCH_uc002xak.2_Splice_Site_p.R553_splice|ITCH_uc010zuj.1_Splice_Site_p.R443_splice	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	594	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTGATTTCAGAGAATGGTTC	0.378000														26			4		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588279	87588279	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:87588279T>C	uc003ydx.3	-	17	2231	c.2183A>G	c.(2182-2184)aAa>aGa	p.K728R	CNGB3_uc010maj.3_Missense_Mutation_p.K585R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	728					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ttcattttctttttgtttatc	0.338000														12			9		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176362	151176362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:151176362G>A	uc011bod.2	-	0	136	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	46	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCAGGTACCGAAATGTGCAG	0.557000														64			60		0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10582264C>T	uc001miv.2	-	3	767	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.E57K	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	161					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443000														56			65		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016275	134016275	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:134016275C>T	uc009ybb.3	+	11	1561	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	469					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)		GCCGCTTCGTCCCTCGGAAAA	0.642000														44			43		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967395	81967395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:81967395G>A	uc003hmg.4	+	1	1140	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	274					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.W273L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCAAATGGGATAGCCACAT	0.517000														16			26		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876442	74876442	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:74876442C>T	uc001xpx.2	-	1	254	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	2					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CACTCAGACTCTCCATGGTTC	0.647000														20			11		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049585	94049585	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:94049585C>G	uc003ung.1	+	34	2591	c.2120C>G	c.(2119-2121)cCt>cGt	p.P707R	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	707			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P707P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	cctgctggtcctCGGGGAAGC	0.453000										HNSCC(75;0.22)				50			15		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40293465	40293465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:40293465G>A	uc003cka.3	+	15	2657	c.2522G>A	c.(2521-2523)aGg>aAg	p.R841K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.R776K|MYRIP_uc010hhw.3_Missense_Mutation_p.R752K|MYRIP_uc011ayz.2_Missense_Mutation_p.R654K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	841	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACTAAGGAAAGGAAAGGCACC	0.408000														11			5		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106130763	106130763	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106130763C>T	uc001kyh.3	+	6	1175	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	347										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)		AGGCAGAAGTCGAACAGCACA	0.378000														16			9		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492756	108492756	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:108492756C>T	uc003psg.3	+	1	875	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	40					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGGTTTTTTCAAACGGAGCA	0.567000														17			148		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233294	56233294	+	RNA	SNP	A	G	G	rs112834599	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:56233294A>G	uc010aos.3	+	0		c.332A>G								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		TGAAGCCTACAAGAAAGTTTG	0.557000														11			5		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619656	52619656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52619656G>A	uc002pym.3	-	3	1044	c.761C>T	c.(760-762)tCa>tTa	p.S254L	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	254					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)		TACAAAATATGAATTTTTTCT	0.398000														29			22		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453376	48453376	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:48453376T>A	uc003csw.2	-	27	5413	c.5143A>T	c.(5143-5145)Aag>Tag	p.K1715*	PLXNB1_uc003cst.2_Nonsense_Mutation_p.K165*|PLXNB1_uc003csu.2_Nonsense_Mutation_p.K1532*|PLXNB1_uc003csx.2_Nonsense_Mutation_p.K1715*	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1715					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTGGTGCTTAATCCCTCGA	0.572000														30			170		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756677	52756677	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52756677G>A	uc001sag.3	-	5	1158	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	346	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.M345I(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCTGGATCATGCGGT	0.587000														77			47		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315361	154315361	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:154315361C>T	uc001fex.3	+	14	1476	c.1476C>T	c.(1474-1476)atC>atT	p.I492I		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	478					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGTCAAGATCGGGGACCCCC	0.542000														23			25		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780706	94780706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:94780706C>T	uc001ycv.3	-	1	384	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	94					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGGTTGAAACCCAGGCCCTGG	0.537000														13			7		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594944	61594944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61594944T>C	uc002yea.4	+	6	918	c.734T>C	c.(733-735)gTc>gCc	p.V245A	SLC17A9_uc002ydz.4_Missense_Mutation_p.V239A|SLC17A9_uc011aap.1_Missense_Mutation_p.V265A	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	245					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGGCAGCCGTCGTCTCCCAG	0.697000														25			5		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836975	94836975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:94836975G>A	uc001kil.2	+	6	1453	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	CYP26A1_uc001kik.1_Missense_Mutation_p.G401R	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	470					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCTTCTAAATGGACCTCCTAC	0.453000														43			24		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968044	102968044	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:102968044T>G	uc002tbu.1	+	10	1605	c.1334T>G	c.(1333-1335)aTt>aGt	p.I445S	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	445	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCGGCACATTTTCATCCTG	0.458000														47			6		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794644	42794645	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42794644_42794645CC>TT	uc002otf.1	+	9	1764_1765	c.1724_1725CC>TT	c.(1723-1725)ccc>cTT	p.P575L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCCCACCCCCTGGGGCTG	0.673000			"""Mis, F, S"""		oligodendroglioma									33			23		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110451049	110451049	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:110451049C>A	uc001tpx.3	+	2	608	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Missense_Mutation_p.L117I|ANKRD13A_uc010sxw.2_Missense_Mutation_p.L117I	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	117										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCAAAAAATTCTCGAGGTATC	0.468000														29			23		1.7367e-05	1.74673e-05	1	1	0
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:87367807C>T	uc002fjw.3	-	7	1126	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	FBXO31_uc010vot.2_Missense_Mutation_p.R189H|FBXO31_uc002fjv.3_Missense_Mutation_p.R253H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	361					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682000														155			8		0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330268	66330268	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:66330268G>A	uc021qma.1	+	10	1156	c.643_splice	c.e10-1	p.G215_splice	ACTN3_uc021qlz.1_Splice_Site			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	797	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						TCCCTGCAGGGGGAAGTGGAG	0.602000														164			83		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:84526400C>T	uc004eeq.3	+	9	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_uc004eep.3_Missense_Mutation_p.P618S|ZNF711_uc004eeo.3_Missense_Mutation_p.P618S|ZNF711_uc011mqy.1_Missense_Mutation_p.P217S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000														1			4		0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6839855	6839855	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6839855C>T	uc001qqj.3	+	6	896	c.657C>T	c.(655-657)acC>acT	p.T219T	COPS7A_uc001qqh.3_Silent_p.T219T|COPS7A_uc001qqi.3_Silent_p.T219T|COPS7A_uc001qqn.4_Silent_p.T219T	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	219					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTAAAAAAACCATTAAAGTTA	0.547000														15			15		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2115518	2115518	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2115518A>G	uc002con.3	+	16	1706	c.1600_splice	c.e16-2	p.V534_splice	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.V534_splice|TSC2_uc002coo.3_Splice_Site_p.V534_splice|TSC2_uc010uvv.2_Splice_Site_p.V497_splice|TSC2_uc010uvw.2_Splice_Site_p.V485_splice|TSC2_uc002cop.3_Splice_Site_p.V334_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	534					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCTCTTCAAAGGTGATGGCC	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					276			12		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361546	97361546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:97361546G>A	uc010fia.3	+	34	4043	c.4043G>A	c.(4042-4044)gGc>gAc	p.G1348D	FER1L5_uc002sws.4_Missense_Mutation_p.G66D|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Missense_Mutation_p.G65D	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1348						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGGGCCTTCGGCCAGCAGACC	0.607000														15			8		0	0	1	0	0
C11orf31	280636	broad.mit.edu	37	11	57509641	57509641	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:57509641C>T	uc021qjj.1	+	2	667	c.321C>T	c.(319-321)ttC>ttT	p.F107F	CTNND1_uc001nlf.2_Intron	NM_170746	NP_734467	Q8IZQ5	SELH_HUMAN	Homo sapiens chromosome 11 open reading frame 31 (C11orf31), mRNA.	107					cell redox homeostasis		selenium binding										AACTCAAATTCCCTGAGCCTC	0.527000														9			4		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554823	150554823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150554823C>T	uc003why.1	+	2	5483	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	ABP1_uc003whz.1_Missense_Mutation_p.P422L|ABP1_uc003wia.1_Missense_Mutation_p.P422L	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	422					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TTTGAAATGCCCACAGGGGTG	0.572000														39			31		0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24875320	24875320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:24875320G>A	uc003grc.3	-	2	346	c.247C>T	c.(247-249)Cct>Tct	p.P83S	CCDC149_uc003grd.3_Missense_Mutation_p.P83S|CCDC149_uc011bxr.2_Missense_Mutation_p.P83S|CCDC149_uc003gre.3_Missense_Mutation_p.P28S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	83										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTTTTTTCAGGAGGAAGTGAT	0.333000														32			11		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637323	248637323	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248637323C>T	uc001iel.1	+	0	672	c.672C>T	c.(670-672)acC>acT	p.T224T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCATACACCCTCATCCTGC	0.562000														212			11		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264484	37264484	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:37264484C>T	uc022abv.1	-	9	1411	c.701_splice	c.e9+1	p.G234_splice	ELMO1_uc011kbc.2_Splice_Site_p.G138_splice|ELMO1_uc003tfk.2_Splice_Site_p.G234_splice|ELMO1_uc010kxg.2_Splice_Site_p.G234_splice	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	234					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCATGCTTACCCTTGCAGGTG	0.493000														111			42		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321526	56321526	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56321526G>A	uc010ygf.2	-	4	1161	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NLRP11_uc002qlz.3_Silent_p.F51F|NLRP11_uc002qmb.3_Silent_p.F51F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	150	NACHT.						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)		CTCCCATCAGGAACACATTGA	0.393000														32			5		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953470	227953470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:227953470G>A	uc021vxr.1	-	20	1623	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S	COL4A4_uc021vxs.1_Missense_Mutation_p.P508S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	508	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGCCTCCCAGGAAGTCCTGGA	0.587000														11			31		0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851795	10851795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:10851795C>T	uc002daa.1	+	6	540	c.517C>T	c.(517-519)Cca>Tca	p.P173S	NUBP1_uc010bum.1_Missense_Mutation_p.P38S|NUBP1_uc002dab.1_Missense_Mutation_p.P162S	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	173					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						TGTGGACACCCCACCTGGGAC	0.562000														121			41		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351312	83351312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:83351312G>A	uc004eej.2	-	19	1897	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	RPS6KA6_uc011mqt.2_Missense_Mutation_p.P621S|RPS6KA6_uc011mqu.2_Missense_Mutation_p.P518S	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	621	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTAGCAAATGGAGTGTAGCTA	0.343000														2			12		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581896	135581896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:135581896C>T	uc004ezw.3	+	2	748	c.326C>T	c.(325-327)aCt>aTt	p.T109I	HTATSF1_uc004ezx.3_Missense_Mutation_p.T109I	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	109					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCGGAACCCACTGATGCCAGA	0.433000														3			22		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352612	168352612	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:168352612C>T	uc021zik.1	+	28	4753	c.4434C>T	c.(4432-4434)gaC>gaT	p.D1478D	MLLT4_uc003qwb.1_Silent_p.D1503D|MLLT4_uc003qwc.2_Silent_p.D1519D|MLLT4_uc021zij.1_Silent_p.D1502D|MLLT4_uc021zim.1_Silent_p.D1065D|MLLT4_uc003qwg.1_Silent_p.D828D	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1519					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAAGCGGGACGCCAAGGAGA	0.612000			T	MLL	AL									24			11		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783607	41783607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:41783607C>T	uc011apa.2	+	1	511	c.425C>T	c.(424-426)tCc>tTc	p.S142F	TEF_uc003azx.3_Missense_Mutation_p.S107F|TEF_uc021wqe.1_Intron|TEF_uc003azy.3_Missense_Mutation_p.S137F	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	137					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GCCAGCTCTTCCACAGCATCC	0.612000														46			51		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196749882	196749883	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:196749882_196749883CC>TT	uc003fxk.4	-	4	703_704	c.589_590GG>AA	c.(589-591)ggg>AAg	p.G197K	MFI2_uc003fxl.4_Missense_Mutation_p.G197K|MFI2_uc011bua.2_Missense_Mutation_p.G170R	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	197	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTCACACACCCCTTCCCCAGAG	0.653000														104			63		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325563	150325563	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150325563C>T	uc022apv.1	-	2	813	c.333G>A	c.(331-333)ctG>ctA	p.L111L	GIMAP6_uc003whn.3_Silent_p.L41L|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	41							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)		GAATGAGCCTCAGTCTCCTTG	0.517000														236			119		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7021922	7021922	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7021922C>T	uc001qrt.4	+	6	1179	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	LRRC23_uc001qrp.3_Silent_p.L263L|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	263										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CCTGGGGGAGCTGGCCAAGCT	0.602000														94			3		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692709	20692709	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:20692709A>G	uc010tlc.2	+	0	841	c.841A>G	c.(841-843)Aca>Gca	p.T281A		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	281					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)		TGTGAGCCCAACATCAGGGAA	0.453000														2			54		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64464056	64464056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:64464056C>T	uc001xgl.3	+	24	3420	c.3190C>T	c.(3190-3192)Ccc>Tcc	p.P1064S	SYNE2_uc001xgm.3_Missense_Mutation_p.P1064S|SYNE2_uc021ruh.1_Missense_Mutation_p.P1064S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1064					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)		AGGAGGGGATCCCCACAGTGA	0.378000														3			10		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939481	40939481	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40939481C>T	uc002ibj.3	+	6	1730	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	WNK4_uc010wgx.2_Silent_p.F218F|WNK4_uc002ibk.1_Silent_p.F326F|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	554					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGTGTCTTCCCCCCTGAGC	0.607000														16			131		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773395	137773395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:137773395G>A	uc003vtz.3	+	1	229	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.G48R|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.G48R|AKR1D1_uc011kqe.1_Missense_Mutation_p.G48R|RN7SK_uc022amj.1_5'Flank	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.	48					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						TATTGACACAGGGTACCGACA	0.493000														18			17		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789550	52789550	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52789550C>T	uc001sai.1	-	7	1429	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	438	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TACAGATATTCACGGGCCCGA	0.552000														17			13		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815477	44815477	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:44815477G>A	uc002xrm.2	-	7	1932	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	CDH22_uc010ghk.1_Silent_p.A511A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	511	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCCTGGCTTGGCATCCTCGC	0.617000														114			128		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599658	196599658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:196599658C>T	uc002utg.4	+	9	2603	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	SLC39A10_uc002uth.4_Missense_Mutation_p.P797S|SLC39A10_uc010zgp.2_Missense_Mutation_p.P347S	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	797					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGGCTTTTGTCCTGTGGGGCA	0.368000														92			4		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173933295	173933295	+	Silent	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:173933295G>C	uc010pmt.2	-	9	1734	c.1647C>G	c.(1645-1647)gcC>gcG	p.A549A	RC3H1_uc001gju.4_Silent_p.A549A|RC3H1_uc010pms.2_Silent_p.A549A|RC3H1_uc001gjv.3_Silent_p.A549A	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	549	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.A549S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCACAGGTAAGGCAGAAATAC	0.398000														48			53		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26592111	26592111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:26592111G>A	uc001rhg.3	-	46	7009	c.6592C>T	c.(6592-6594)Cag>Tag	p.Q2198*	ITPR2_uc009zjg.1_Nonsense_Mutation_p.Q349*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2198					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTGTTTGCTGGAAAAAGTCA	0.378000														69			28		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584226	33584226	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33584226G>A	uc002xbi.2	+	28	3464	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1007						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGTTGCAGGAGGCCCACC	0.657000														20			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015342	9015342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9015342G>A	uc002mkp.3	-	29	38450	c.38246C>T	c.(38245-38247)tCt>tTt	p.S12749F	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12751	SEA 5.			Missing (in Ref. 3; AAK74120).	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						TCTGCAGCCAGAGTACAGAGG	0.522000														115			73		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4471397C>T	uc001lyz.2	+	0	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000														100			79		0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158539796	158539796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:158539796C>T	uc003fcl.2	+	10	1171	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	MFSD1_uc011bow.2_Missense_Mutation_p.P325L|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Missense_Mutation_p.P218L	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	315					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATCAGCTCCCATGTCCCCG	0.443000														37			29		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735143	110735144	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110735143_110735144CC>TT	uc009wfq.3	+	7	1583_1584	c.1122_1123CC>TT	c.(1120-1125)atccta>atTTta	p.374_375IL>IL	SLC6A17_uc001dze.1_5'UTR	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	374					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGAGAAAATCCTAGGGTACCT	0.554000														72			15		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464675	16464675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:16464675G>A	uc001aya.2	-	4	1140	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	EPHA2_uc010oca.2_Missense_Mutation_p.P329S	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	329	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGGGCGGAGGGGGGTCCTGCA	0.667000														30			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058672	9058672	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9058672G>T	uc002mkp.3	-	2	28978	c.28774C>A	c.(28774-28776)Cag>Aag	p.Q9592K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9594	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						GTGATGTCCTGGGAGGTTCTG	0.522000														12			7		1.12685e-05	1.135e-05	1	1	0
MAPK13	5603	broad.mit.edu	37	6	36104507	36104507	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:36104507C>T	uc003ols.3	+	6	668	c.570C>T	c.(568-570)gcC>gcT	p.A190A	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	190	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GGTACCGAGCCCCCGAGGTGA	0.582000														10			18		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507996	14507996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14507996C>T	uc002myl.3	+	5	966	c.586C>T	c.(586-588)Ccg>Tcg	p.P196S	CD97_uc002mym.3_Intron|CD97_uc002myn.3_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	196	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAACCGATTCCGGGGTCCCC	0.587000														93			49		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102482568	102482568	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:102482568C>T	uc001phc.3	-	2	454	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	147					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TACTCCAGGCCTGCAAGGCCA	0.438000														3			23		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175742	57175742	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57175742C>T	uc010ygn.2	-	1	1052	c.825G>A	c.(823-825)gaG>gaA	p.E275E		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTAGGGCTTCTCCTCCGTGT	0.687000														15			10		0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985241	108985241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:108985241C>T	uc003psk.2	+	2	1521	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	FOXO3_uc003psm.2_Missense_Mutation_p.S402L|FOXO3_uc011ean.1_Missense_Mutation_p.S182L|FOXO3_uc010kdj.1_Missense_Mutation_p.S182L	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	402					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TCCCAGCCATCGCCCACTGGG	0.582000														9			63		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580675	40580675	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40580675T>A	uc010xvh.2	-	5	1825	c.1677A>T	c.(1675-1677)gaA>gaT	p.E559D	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.E558D|ZNF780A_uc002omz.3_Missense_Mutation_p.E558D	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTCCTTACATTCAAAGGGTT	0.383000														78			66		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153914354	153914354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:153914354G>A	uc001fdd.1	-	5	1447	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	349	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCTTCCAAGGGTAGGCGGTG	0.632000														71			38		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647925	51647925	+	Silent	SNP	C	T	T	rs117714252	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51647925C>T	uc002pvv.1	+	1	765	c.696C>T	c.(694-696)atC>atT	p.I232I	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	232	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACAGGACCATCCAACTCAATG	0.652000														49			26		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367002	32367002	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32367002C>T	uc001utt.3	+	15	1634	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	RXFP2_uc010aba.3_Silent_p.F497F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	521						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGAGAAGTTCCTGGTCATTG	0.507000														21			16		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117715387	117715387	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117715387A>T	uc003pxp.1	-	9	1301	c.1102T>A	c.(1102-1104)Tta>Ata	p.L368I	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.	368					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L368F(1)	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)		GAAGAAATTAATCCTGAACCT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									5			19		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875442	27875442	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:27875442G>T	uc021ojw.1	-	0	3185	c.3185C>A	c.(3184-3186)aCa>aAa	p.T1062K	AHDC1_uc009vsy.3_Missense_Mutation_p.T1062K|AHDC1_uc009vsz.1_Missense_Mutation_p.T1062K	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1062							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCGAGACTGTGCTGGCCCG	0.677000														2			6		0.00116845	0.00117181	1	1	0
PRKAA2	5563	broad.mit.edu	37	1	57171796	57171796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:57171796G>A	uc001cyk.4	+	7	1396	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	442					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CGTGTAAGAAGAAAAAATCCA	0.308000														39			16		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985056	140985056	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140985056C>T	uc011mwp.2	+	6	1512	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	MAGEC3_uc004fbs.3_Silent_p.F206F|MAGEC3_uc010nsj.3_Silent_p.F206F|MAGEC3_uc022cfh.1_Silent_p.F206F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	504	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATGAGTTCATAGAGCTAA	0.443000														10			60		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52252198	52252198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52252198C>T	uc003xqu.4	-	20	4233	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	PXDNL_uc003xqt.4_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1378					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTCTGAGTGCTGTGATGGTT	0.388000														40			37		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154844	100154844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:100154844C>T	uc001dsg.3	+	6	1471	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	343					regulation of cell shape	cytoplasm|membrane		p.P343L(2)		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)		CTTCACACCCCGCAAAAAAGG	0.488000														26			17		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70071286	70071286	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:70071286C>T	uc003heh.3	-	4	1012	c.1003_splice	c.e4-1	p.V335_splice	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	335					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						TCCACAGAACCTGTTACAGTA	0.398000														19			5		0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243163	19243163	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:19243163G>A	uc002nlg.3	-	4	471	c.441C>T	c.(439-441)tcC>tcT	p.S147S	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	147					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AAGGATACATGGAGAAGGTCA	0.582000														62			52		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27324800	27324800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:27324800G>A	uc010lur.3	-	4	1004	c.395C>T	c.(394-396)tCt>tTt	p.S132F	CHRNA2_uc011lal.2_Missense_Mutation_p.S117F|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	132						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GACCCTGAGAGATGTGATGTT	0.547000														70			30		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5238831	5238831	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:5238831A>G	uc001ihw.2	+	0	34	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	1					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GTGGCAAGCAATGGATCCCAA	0.443000														58			40		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892196	16892196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:16892196C>T	uc009vos.1	-	26	3884	c.2996G>A	c.(2995-2997)tGc>tAc	p.C999Y	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	999	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATAGGGCAGGCAGGAGTCAGG	0.478000														771			10		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418314	38418314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:38418314G>A	uc003jlc.2	+	11	1987	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	EGFLAM_uc003jlb.2_Missense_Mutation_p.M547I|EGFLAM_uc003jle.2_Missense_Mutation_p.M313I|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.	547	Laminin G-like 1.					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)					GAATTGACATGAGGCCCTGGC	0.562000														10			30		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320429	79320429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:79320429C>T	uc010mpk.3	-	7	6885	c.6761G>A	c.(6760-6762)aGc>aAc	p.S2254N	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.S2076N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2254					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAGAAAAGCTGTCTGATAT	0.453000														15			6		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253047	55253047	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:55253047A>C	uc003jqq.3	-	8	1359	c.1046T>G	c.(1045-1047)cTc>cGc	p.L349R	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.L60R|IL6ST_uc003jqr.3_Intron|IL6ST_uc010iwb.3_Missense_Mutation_p.L349R	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	349	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTTCCACACGAGTTGTACAGT	0.348000			O		hepatocellular ca									11			45		0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18608840	18608840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:18608840C>T	uc002wrf.4	+	3	601	c.440C>T	c.(439-441)tCg>tTg	p.S147L		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	147					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	p.S147S(1)		large_intestine(4)|lung(1)|ovary(2)	7						GAGCTGGAATCGCCAGCTCCC	0.537000														54			37		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691026	26691026	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:26691026G>A	uc001bmg.1	-	3	1129	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	ZNF683_uc001bmh.1_Silent_p.L337L|ZNF683_uc009vsj.1_Silent_p.L337L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGATACCTTGAGATTGGAGA	0.537000														160			42		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:71347138C>T	uc011cat.2	+	3	965	c.677C>T	c.(676-678)cCa>cTa	p.P226L	MUC7_uc011cau.2_Missense_Mutation_p.P226L|MUC7_uc003hfj.3_Missense_Mutation_p.P226L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	226	Thr-rich.					extracellular region	protein binding	p.P226L(2)|p.P225T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582000														280			5		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943058	20943058	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:20943058C>T	uc001vxo.4	+	3	558	c.412C>T	c.(412-414)Cta>Tta	p.L138L	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Silent_p.L9L	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	138					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CCATATCAACCTACCTGGTTT	0.483000														4			46		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198317	185198317	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185198317G>A	uc010hyf.3	+	14	3090	c.2799_splice	c.e14+1	p.E933_splice	MAP3K13_uc011brt.2_Splice_Site_p.E726_splice|MAP3K13_uc011bru.2_Splice_Site_p.E789_splice|MAP3K13_uc003fpi.3_Splice_Site_p.E933_splice|MAP3K13_uc010hyg.3_Splice_Site_p.E623_splice	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	933					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGGCTATGAGGTGGGGGCTT	0.507000														53			38		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332481	70332481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:70332481G>A	uc001oqc.3	-	20	3831	c.3719C>T	c.(3718-3720)tCc>tTc	p.S1240F	SHANK2_uc010rqn.2_Missense_Mutation_p.S716F|SHANK2_uc001opz.3_Missense_Mutation_p.S711F|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.	927					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.G1239R(1)|p.G1239W(1)		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)			CTTCTGCTGGGACGTGTCCAT	0.597000														90			39		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4780636	4780636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:4780636C>T	uc003snc.1	+	1	738	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FOXK1_uc003sna.1_Missense_Mutation_p.S80F|FOXK1_uc003snb.1_Missense_Mutation_p.S243F	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	243					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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	p.S243F(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCGTCCCCTCCCCGACGGGC	0.701000														13			30		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702693	27702693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:27702693C>T	uc001itu.2	-	0	605	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	163					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCTTCCTCTTCGTCCTTGGGT	0.662000														77			25		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690229	6690229	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6690229A>G	uc001qpo.3	-	32	5054	c.4890T>C	c.(4888-4890)ccT>ccC	p.P1630P	CHD4_uc001qpn.3_Silent_p.P1623P|CHD4_uc001qpp.3_Silent_p.P1655P|AK096395_uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1630	Required for interaction with PCNT.				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|zinc ion binding			central_nervous_system(2)	2						CTGTCTCCATAGGTTCCTCTG	0.512000														176			3		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551479	41551479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:41551479C>T	uc003xok.3	-	28	3553	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.D473N|ANK1_uc003xoi.3_Missense_Mutation_p.D1157N|ANK1_uc003xoj.3_Missense_Mutation_p.D1157N|ANK1_uc003xol.3_Missense_Mutation_p.D1157N|ANK1_uc003xom.3_Missense_Mutation_p.D1198N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1157					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)			CTCGGGTTGTCGGTCCAGGAA	0.657000														39			24		0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30771580	30771580	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:30771580A>G	uc011aku.2	+	9	2445	c.1785A>G	c.(1783-1785)ctA>ctG	p.L595L	CCDC157_uc011akv.2_Silent_p.L595L|Em:AC004997.11_uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	595										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TCCGGGTCCTACAGGAGGAGA	0.607000														80			17		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761101	61761101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:61761101G>A	uc002eog.2	-	8	2388	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	CDH8_uc002eoh.3_Missense_Mutation_p.S247L	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	478	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGTACTCGTGATATCTGACT	0.413000														37			9		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554378	140554378	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140554378C>T	uc003lit.3	+	0	2136	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	654	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGCTCGGCCACCGCCACGC	0.706000														7			51		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042462	74042462	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74042462A>C	uc002sjr.1	+	2	1233	c.1112A>C	c.(1111-1113)aAg>aCg	p.K371T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	371										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AACCTTTCAAAGCCTCTAGAT	0.443000														7			27		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57570838	57570838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:57570838G>A	uc001snd.3	+	24	4472	c.4006G>A	c.(4006-4008)Gag>Aag	p.E1336K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1336					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACTAGTTTCGAGGTGGTGAT	0.557000														99			54		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52394736T>C	uc002pxy.3	-	4	979	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483000														78			6		0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31617941	31617941	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:31617941T>C	uc011axe.2	+	1	368	c.368T>C	c.(367-369)tTa>tCa	p.L123S	STT3B_uc003cer.1_Missense_Mutation_p.L123S|STT3B_uc010hft.1_Missense_Mutation_p.L123S	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	123					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						TATGAATTTTTAAATTGGTTT	0.289000														8			27		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262110	39262110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:39262110C>T	uc010wfp.2	+	0	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	157	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgcagcatctccagctgctgc	0.657000														5			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057032	9057032	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9057032G>A	uc002mkp.3	-	2	30618	c.30414C>T	c.(30412-30414)tcC>tcT	p.S10138S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10140	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						TTTCAGCCATGGAAGAGGGAG	0.458000														6			7		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173756	126173756	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:126173756C>T	uc003vlr.2	-	7	1991	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.Q560Q|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	560					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				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)	TGTTGGGTCTCTGATCCAGAG	0.527000										HNSCC(24;0.065)				107			32		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24927579	24927579	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:24927579T>G	uc001mqs.3	+	5	713	c.439T>G	c.(439-441)Tgt>Ggt	p.C147G	LUZP2_uc009yif.3_Missense_Mutation_p.C61G|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	147						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						AAACAAGCTCTGTGGCATTCA	0.328000														21			22		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45241179	45241180	+	Missense_Mutation	DNP	CC	TT	TT	rs147582478	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:45241179_45241180CC>TT	uc003bfd.3	+	12	1534_1535	c.1257_1258CC>TT	c.(1255-1260)atcccc>atTTcc	p.P420S	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P332S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P246S|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.P210S|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.P210S|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P241S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P210S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.									p.P242fs*3(1)|p.P247fs*3(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCGAACTCATCCCCCCTGTGCT	0.535000														62			62		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46318953	46318953	+	Missense_Mutation	SNP	C	T	T	rs139603157		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:46318953C>T	uc002xto.3	-	4	984	c.654G>A	c.(652-654)atG>atA	p.M218I	SULF2_uc002xtr.3_Missense_Mutation_p.M218I|SULF2_uc002xtq.3_Missense_Mutation_p.M218I|SULF2_uc010ghv.1_Missense_Mutation_p.M218I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	218					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCTGATGACCATGAGGACTG	0.572000														56			59		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67164707	67164707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:67164707G>A	uc001okr.3	+	9	1023	c.930G>A	c.(928-930)atG>atA	p.M310I	RAD9A_uc021qmg.1_Missense_Mutation_p.M234I	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	310	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGATCGCCATGGAAACCACTA	0.612000								Other conserved DNA damage response genes						73			23		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157768008	157768008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157768008C>T	uc001frg.3	-	7	1170	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.E353K|FCRL1_uc001fri.3_Missense_Mutation_p.E314K|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	353						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493000														48			3		0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659724	172659724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:172659724G>A	uc003mcm.2	-	1	1052	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	NKX2-5_uc010jjt.2_3'UTR|NKX2-5_uc011dfe.2_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.	275	Ala/Pro-rich.		P -> T (in ASD-AVCD).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCCGGCGGGGTAAGCGGCA	0.677000														5			3		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64520612	64520612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64520612G>A	uc001oax.4	-	11	2268	c.1451C>T	c.(1450-1452)aCc>aTc	p.T484I	PYGM_uc001oay.4_Missense_Mutation_p.T396I	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	484					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.K483N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GATGCCGTTGGTCTTATTCTG	0.567000														205			99		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547963	113547963	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:113547963C>T	uc022blv.1	+	12	1877	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.I492I|MUSK_uc022blu.1_Silent_p.I482I	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	581	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGAGAGACATCGGAGAGGGAG	0.428000														28			10		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145823	98145823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:98145823C>T	uc001kml.2	-	14	2243	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	668	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCATTGCCTTCCAGTTCAAAC	0.537000														25			18		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670529	134670529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:134670529C>T	uc003eqt.3	+	2	815	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.S147F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	147						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGAGCTTCTCCCAGGTGGAC	0.493000														105			73		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116196096	116196096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:116196096C>T	uc021pyx.1	-	22	2359	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	ABLIM1_uc021pyw.1_3'UTR|ABLIM1_uc021pyy.1_Missense_Mutation_p.G719R|ABLIM1_uc021pyz.1_3'UTR|ABLIM1_uc021pza.1_Missense_Mutation_p.G694R|ABLIM1_uc021pyv.1_3'UTR|ABLIM1_uc021pyu.1_Missense_Mutation_p.G431R	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	754	HP.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATGGACATTCCAAAGATTTCC	0.448000														44			29		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159803058	159803058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:159803058G>A	uc001fue.4	+	3	890	c.680G>A	c.(679-681)gGg>gAg	p.G227E		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	227						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCAGCACCAGGGAAGGCCTCC	0.567000														180			211		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79420961	79420961	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:79420961A>C	uc003hlb.2	+	60	9642	c.9202A>C	c.(9202-9204)Atc>Ctc	p.I3068L	FRAS1_uc003hlc.1_Missense_Mutation_p.I70L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3063	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATCAAGGTGATCCGCAGAGG	0.547000														52			76		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735130	55735130	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:55735130G>A	uc010rit.2	-	0	810	c.810C>T	c.(808-810)acC>acT	p.T270T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAATCAGAATGGTGTAGAAAA	0.348000														21			9		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6736626	6736626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6736626C>T	uc002mfp.3	-	1	263	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	73						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTCTGCCTCCCGGAGGCCC	0.622000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397696	10397696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10397696G>A	uc002gmo.3	-	38	5736	c.5642C>T	c.(5641-5643)tCc>tTc	p.S1881F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1881						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						TCTCTTGTAGGATTTCACCTT	0.433000														13			93		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890830	31890830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:31890830G>A	uc002wyw.1	+	10	1251	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	364						extracellular space	lipid binding										GATCGTGCTGGAAGTGTTTCC	0.537000														143			49		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817609	101817609	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:101817609C>T	uc004azb.1	+	33	3353	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1049	Nonhelical region 8 (NC8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGGCAGCTTCCTTATGTCTG	0.507000														38			26		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44310583	44310584	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:44310583_44310584GG>AA	uc003jog.1	-	1	374_375	c.374_375CC>TT	c.(373-375)gcc>gTT	p.A125V		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	125					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TGCTGTTAATGGCTTTGACGGC	0.351000														2			5		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857546	9857546	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:9857546C>T	uc010uym.2	-	13	4165	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	GRIN2A_uc002czo.4_Silent_p.R1285R|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1285					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.R1285K(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)	GACGGCTAATCCTTAGCTTGT	0.532000														52			28		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166189	19166189	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:19166189G>A	uc001bba.1	-	5	2425	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	808					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTTGGGGCCGAAGTAGCCCA	0.597000														44			21		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52773722	52773722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:52773722C>T	uc002xwv.2	-	10	1939	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	CYP24A1_uc002xwu.1_Missense_Mutation_p.R372Q|CYP24A1_uc002xww.2_Missense_Mutation_p.R448Q	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	514					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGTATTATCGCTGGCAAAA	0.557000														18			15		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112322	10112322	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10112322T>A	uc002mmq.1	-	7	1074	c.988A>T	c.(988-990)Acc>Tcc	p.T330S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	330	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCAGCTCGGTTCCACTGTCA	0.562000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			15		0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88631453	88631453	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:88631453G>A	uc004aoi.4	+	18	1706	c.1569_splice	c.e18-1	p.W523_splice	NAA35_uc004aoj.4_Splice_Site_p.W523_splice	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	523					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TATCCTTTAAGGTATCTCTCT	0.363000														27			21		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8698409	8698409	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:8698409G>T	uc002wnb.3	+	13	1430	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	PLCB1_uc010zrb.1_Missense_Mutation_p.G375V|PLCB1_uc002wna.3_Missense_Mutation_p.G476V|PLCB1_uc002wnc.1_Missense_Mutation_p.G375V|PLCB1_uc002wnd.1_Missense_Mutation_p.G53V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	476					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						TCATCAGAAGGAAGCGGCAAA	0.463000														51			9		7.48243e-07	7.56388e-07	1	1	0
MICALL2	79778	broad.mit.edu	37	7	1484890	1484890	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:1484890G>A	uc003skj.4	-	5	963	c.816C>T	c.(814-816)tcC>tcT	p.S272S	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	272						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTCTGTGGGGAACAGGAGG	0.682000														13			14		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388870	4388870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4388870G>A	uc010qye.2	-	0	747	c.656C>T	c.(655-657)tCc>tTc	p.S219F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATATAGGAAATAAAAAT	0.408000														10			3		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21087380	21087380	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:21087380G>A	uc002zsz.4	-	35	4254	c.3993C>T	c.(3991-3993)ccC>ccT	p.P1331P	PI4KA_uc002zsy.4_Silent_p.P141P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1331					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAACTTTGGGGGACAGCTTC	0.488000														72			35		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79589264	79589264	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:79589264G>A	uc001jzk.3	-	11	2104	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	DLG5_uc001jzj.3_Silent_p.I433I|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.I282I	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	678	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCACATCGTTGATTCTCAGCA	0.592000														83			69		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758698	5758698	+	Missense_Mutation	SNP	C	T	T	rs148131819		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5758698C>T	uc001mbt.2	+	0	1021	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGTTTGCCCTTACAAAAGA	0.408000														29			35		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127441340	127441340	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:127441340A>T	uc003ejx.3	-	3	447	c.302T>A	c.(301-303)tTg>tAg	p.L101*	MGLL_uc003ejw.3_Nonsense_Mutation_p.L111*|MGLL_uc011bko.2_Nonsense_Mutation_p.L111*|MGLL_uc010hsp.1_Nonsense_Mutation_p.L101*|MGLL_uc003ejv.3_Nonsense_Mutation_p.L75*	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	101					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CACATGCTGCAACACATCCCT	0.537000														95			38		0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171350	70171350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:70171350C>T	uc001xlk.3	+	3	665	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	KIAA0247_uc010aqz.3_Missense_Mutation_p.P92S	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	117						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ACTTGGGGTCCCCACGCTGTC	0.507000														22			8		0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131219361	131219361	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:131219361G>A	uc011blp.2	-	3	558	c.363C>T	c.(361-363)tcC>tcT	p.S121S	MRPL3_uc011blo.2_5'UTR|MRPL3_uc003eoh.3_Silent_p.S94S	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	94					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAACTCTAAAGGAACCTGGCA	0.398000														43			25		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72301249	72301249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:72301249G>A	uc001jrd.4	+	16	2361	c.2080G>A	c.(2080-2082)Gtg>Atg	p.V694M	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	694										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGAGGAGCTCGTGAGTGTGCC	0.627000														22			9		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448490	49448490	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:49448490T>C	uc001jgi.3	-	5	944	c.613A>G	c.(613-615)Aga>Gga	p.R205G	FRMPD2_uc001jgh.3_Missense_Mutation_p.R174G|FRMPD2_uc001jgj.3_Missense_Mutation_p.R174G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	205					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGTAGCTTCTGTTCTGCTGC	0.582000														36			4		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333208	333208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:333208G>A	uc001qic.2	-	10	1351	c.1261C>T	c.(1261-1263)Ctt>Ttt	p.L421F	SLC6A13_uc009zdj.2_Missense_Mutation_p.L411F|SLC6A13_uc010sdl.2_Missense_Mutation_p.L329F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	421					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATACTCCAAGGATGAGGACT	0.577000														49			25		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056926	120056926	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:120056926G>A	uc001ehv.1	+	3	925	c.780G>A	c.(778-780)acG>acA	p.T260T		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	260					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CAGATGACACGCCTCACCAAA	0.522000														35			50		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66943216	66943216	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:66943216C>T	uc002eql.3	-	16	2540	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	CDH16_uc010cdy.3_Silent_p.T760T|CDH16_uc021tjx.1_Silent_p.T743T|CDH16_uc002eqm.3_Silent_p.T685T	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	782	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P781S(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCGACAGCTTCGTGGGCATGC	0.617000														33			45		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63601104	63601104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:63601104G>A	uc003dlp.3	+	5	1101	c.805G>A	c.(805-807)Gat>Aat	p.D269N	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Missense_Mutation_p.D249N|SYNPR_uc010hnt.3_Missense_Mutation_p.D258N|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	249						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)		GCCAACCTCAGATGAGTTTGG	0.493000														3			15		0	0	1	0	0
SYNGR4	23546	broad.mit.edu	37	19	48879538	48879538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:48879538C>T	uc002piz.3	+	4	919	c.668C>T	c.(667-669)cCa>cTa	p.P223L		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	223						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CTGACCGCTCCAAAGTCCCCC	0.537000														41			21		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111970318	111970318	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:111970318C>T	uc004bdz.1	-	17	2059	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	588						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGAGACTTTCTTTTCTTCAG	0.398000														31			23		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553703	19553703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:19553703G>A	uc001vuz.1	+	0	339	c.287G>A	c.(286-288)aGc>aAc	p.S96N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	96										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACACTCAGGAGCAAGATGGGC	0.612000														591			19		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379321	114379321	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:114379321C>T	uc003pwg.4	-	1	173	c.141G>A	c.(139-141)ctG>ctA	p.L47L	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.L47L	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	47					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.L47M(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCCACCCAGTCGACCTT	0.542000														12			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425152	179425152	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179425152A>G	uc021vsy.1	-	274	78228	c.78003T>C	c.(78001-78003)ctT>ctC	p.L26001L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L19696L|TTN_uc021vta.1_Silent_p.L19629L|TTN_uc021vtb.1_Silent_p.L19504L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26928	Fibronectin type-III 89.						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)			TTGACCAGCAAAGTGTCATAG	0.413000														2			17		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239418	155239418	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155239418C>A	uc001fjy.3	-	2	550	c.260G>T	c.(259-261)gGa>gTa	p.G87V	CLK2_uc001fjw.3_Missense_Mutation_p.G87V|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.G87V	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	87						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGGCATCTCCCCGATCCCG	0.547000								Other conserved DNA damage response genes						192			204		1.8298e-113	1.89088e-113	1	1	0
MUC16	94025	broad.mit.edu	37	19	9066340	9066340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9066340G>A	uc002mkp.3	-	2	21310	c.21106C>T	c.(21106-21108)Cct>Tct	p.P7036S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7038	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						GACCCAGAAGGACCTGTTTGA	0.478000														59			38		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9585962	9585962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9585962G>A	uc002mlp.1	-	2	238	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	ZNF560_uc010dwr.1_5'UTR	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						CTGCATACCTGATAACAATTT	0.408000														21			24		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655430	31655430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31655430G>A	uc003nvy.2	-	17	1614	c.1535C>T	c.(1534-1536)cCc>cTc	p.P512L	ABHD16A_uc003nvx.2_Missense_Mutation_p.P293L|ABHD16A_uc011dny.2_Missense_Mutation_p.P479L|ABHD16A_uc010jtc.2_Missense_Mutation_p.P293L|ABHD16A_uc011dnz.2_Missense_Mutation_p.P293L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	512						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACGCTCCAGGGGAAGTCGGG	0.597000														59			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091052	9091052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9091052C>T	uc002mkp.3	-	0	967	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	255	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						AGAATCAGTTCCAGGCTTGTT	0.478000														18			13		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444341	5444341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5444341G>A	uc010qzd.2	+	0	1001	c.911G>A	c.(910-912)gGa>gAa	p.G304E	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.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATCCAATGGGGAATGTTAAAT	0.418000														5			16		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989114	134989114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:134989114G>A	uc004ezh.3	+	7	933	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SAGE1_uc010nry.1_Missense_Mutation_p.E225K|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	256										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)					TGTCCCTGAGGAGAAGATGGA	0.473000														6			55		0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26460004	26460004	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:26460004C>T	uc003nib.2	+	2	626	c.378C>T	c.(376-378)taC>taT	p.Y126Y	BTN2A1_uc021yni.1_Silent_p.Y126Y|BTN2A1_uc003nic.2_Silent_p.Y126Y|BTN2A1_uc011dko.2_Silent_p.Y65Y	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	126	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ACCGCTGTTACTTCCAAGAAG	0.537000														39			26		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626239	80626239	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:80626239C>A	uc003khl.4	-	14	1697	c.1642G>T	c.(1642-1644)Gat>Tat	p.D548Y	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	548	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AACCCATCATCAGGAGGATTC	0.398000														4			57		1.77355e-41	1.82329e-41	1	1	0
LYST	1130	broad.mit.edu	37	1	235969576	235969576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235969576G>A	uc001hxj.2	-	5	3035	c.2860C>T	c.(2860-2862)Cct>Tct	p.P954S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.P954S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	954					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATATGTTCAGGAGAAGGCAAG	0.448000														74			17		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38142889	38142889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:38142889C>T	uc002htn.1	+	2	637	c.473C>T	c.(472-474)cCc>cTc	p.P158L	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.P59L	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	158				TP -> NT (in Ref. 5; AAH12302).	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCGTCGACACCCCTCCTGCCT	0.532000														23			156		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960841	143960841	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:143960841G>A	uc010mey.3	-	1	302	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGCGCCACAGACCAGCACGT	0.632000									Familial Hyperaldosteronism type I					21			26		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785932	10785932	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10785932C>A	uc001mja.3	+	10	1511	c.1362C>A	c.(1360-1362)ctC>ctA	p.L454L		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	454					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGAGATTCTCAATAATGTGG	0.428000														35			21		7.26314e-15	7.42846e-15	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235345322	235345322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235345322G>A	uc021pks.1	-	19	3289	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	ARID4B_uc001hwq.3_Missense_Mutation_p.T971I|ARID4B_uc001hwr.3_Missense_Mutation_p.T885I|ARID4B_uc001hws.4_Missense_Mutation_p.T885I|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.T652I	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	971					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.T971fs*3(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTCAGCCACAGTCTGCAGTGA	0.498000														12			135		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940945	10940945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10940945C>T	uc002mpt.2	+	19	2624	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.R812W|DNM2_uc010dxl.2_Missense_Mutation_p.R812W|DNM2_uc002mpu.2_Missense_Mutation_p.R808W|DNM2_uc002mpv.2_Missense_Mutation_p.R808W|DNM2_uc002mpw.3_Missense_Mutation_p.R541W|DNM2_uc002mpx.1_Missense_Mutation_p.R168W	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	812	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.R808R(1)|p.R812R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AATCCCATCCCGGCCTGGACC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL									132			68		0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5784033	5784033	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:5784033G>A	uc010xiv.1	-	2	330	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PRR22_uc002mdb.1_Silent_p.F73F	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	73										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TGCGGGGGTCGAAGAAGCACC	0.697000														13			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091598	9091598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9091598C>T	uc002mkp.3	-	0	421	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	73	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						GTGGTTCTTCCCACAACCGAA	0.522000														56			34		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788431	42788431	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:42788431G>A	uc002xli.1	-	1	1869	c.996C>T	c.(994-996)ccC>ccT	p.P332P		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	332					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGGCCGTCGGGCAGCGTGG	0.662000														48			37		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574810	103574811	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:103574810_103574811CC>TT	uc001ymk.3	+	9	2008_2009	c.1932_1933CC>TT	c.(1930-1935)atccag>atTTag	p.Q645*		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	645										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AAGATGACATCCAGCGGCACCT	0.609000														135			99		0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4771127	4771127	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:4771127G>A	uc002wld.3	-	5	561	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.F169F	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	169					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CGTTGATGGAGAAGCGGTGGC	0.602000														53			28		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895518	40895518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40895518C>T	uc002onp.3	-	0	577	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	98	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTCTGGAACTCGAAAAGGTTT	0.597000														38			40		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546388	50546388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:50546388C>T	uc001zxz.3	-	5	1001	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.R220Q|HDC_uc010bet.2_Missense_Mutation_p.R141Q|HDC_uc010beu.2_Missense_Mutation_p.R220Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	220					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R220R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGCTTCCCCTCGGAGTGAGAA	0.488000														9			29		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755352	1755352	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1755352C>T	uc009zdq.3	+	4	1256	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	WNT5B_uc001qjj.3_Silent_p.F338F|WNT5B_uc001qjk.3_Silent_p.F338F|WNT5B_uc001qjl.3_Silent_p.F338F	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	338					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACTGCAAGTTCCACTGGTGCT	0.602000														44			22		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401775	23401775	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:23401775C>T	uc002zwt.3	-	6	1070	c.912G>A	c.(910-912)gaG>gaA	p.E304E		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	304							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTTGCGGCCCTCGGGGGCCT	0.647000														76			20		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52252245	52252245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52252245G>A	uc003xqu.4	-	20	4186	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	PXDNL_uc003xqt.4_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1362					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAAATCTTGGGAGAACTTTGT	0.373000														55			37		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:57233561G>A	uc001cym.4	-	4	1410	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	335								p.S335L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000														75			31		0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395517	160395517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:160395517C>T	uc003fdq.3	+	0	570	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	128					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CAAGACATGCCTGGAGCTCTG	0.468000														48			39		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729265	18729265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:18729265C>T	uc002njy.4	+	6	950	c.863C>T	c.(862-864)aCc>aTc	p.T288I		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	288						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCTGCTCCACCCTGGTGACC	0.677000														10			11		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43280221	43280221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:43280221C>T	uc003jno.3	+	3	1582	c.701C>T	c.(700-702)cCt>cTt	p.P234L		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	234	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGTGGGTCTCCTCCCTACGCT	0.483000														55			34		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60567351	60567351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:60567351G>A	uc001npz.1	+	7	869	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	258						integral to membrane	receptor activity	p.G258*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						gtcactgacggagctgcgatc	0.507000														19			5		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145003384	145003384	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:145003384C>T	uc003zaf.1	-	24	3728	c.3558G>A	c.(3556-3558)aaG>aaA	p.K1186K	PLEC_uc003zab.1_Silent_p.K1049K|PLEC_uc003zac.1_Silent_p.K1053K|PLEC_uc003zad.2_Silent_p.K1049K|PLEC_uc003zae.1_Silent_p.K1017K|PLEC_uc003zag.1_Silent_p.K1027K|PLEC_uc003zah.2_Silent_p.K1035K|PLEC_uc003zaj.2_Silent_p.K1076K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1186	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGCCAAGACCTTCTCGGCCT	0.682000														14			4		0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214001	67214001	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:67214001G>A	uc002ert.3	-	1	1348	c.513C>T	c.(511-513)ccC>ccT	p.P171P	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Silent_p.P171P|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	171										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCGTGGGCATGGGCTCCTGGT	0.577000														33			53		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72132046	72132046	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:72132046G>A	uc004ahh.2	-	1	357	c.81C>T	c.(79-81)gcC>gcT	p.A27A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	27					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTCCAGGTCGGCCTCCACCG	0.687000														6			3		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901907	23901907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:23901907C>T	uc001wjx.3	-	4	549	c.443G>A	c.(442-444)aGc>aAc	p.S148N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	148	Myosin head-like.		S -> I (in CMH1).		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)		CGGGGCCTCGCTCCTCTTCTT	0.597000														15			118		0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116656545	116656545	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:116656545C>T	uc001ppp.3	-	4	582	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	183					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTTTAGCTCCTTCAGTTTGA	0.468000														21			20		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116019	42116019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:42116019C>T	uc001zok.4	+	29	4277	c.3991C>T	c.(3991-3993)Ccg>Tcg	p.P1331S	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Missense_Mutation_p.P1164S|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P1325S|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P832S|MAPKBP1_uc010bck.3_Missense_Mutation_p.P542S|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P832S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1331										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCTGGCTTCCCGGTGGGCCT	0.617000														6			59		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35704998	35704998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35704998G>A	uc003ola.3	+	0	140	c.113G>A	c.(112-114)gGc>gAc	p.G38D	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.G38D	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	38							binding										ATCAAGGCTGGCATAAAATGC	0.617000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			29		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053175	15053176	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15053175_15053176GG>TA	uc010xoc.2	+	0	875_876	c.875_876GG>TA	c.(874-876)agg>aTA	p.R292I		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292K(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TACAGCCTGAGGAACAAGGACA	0.530000														64			37		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450579	85450579	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:85450579A>G	uc001tac.3	+	7	2119	c.2008A>G	c.(2008-2010)Aaa>Gaa	p.K670E	LRRIQ1_uc021rbo.1_Missense_Mutation_p.K548E|LRRIQ1_uc001taa.1_Missense_Mutation_p.K645E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	670										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)		TATAGAAGGCAAAAGAAATGA	0.363000														24			7		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:34006261C>T	uc001bxm.1	-	59	9672	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G	CSMD2_uc001bxn.1_Silent_p.G3021G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3139	Sushi 25.					integral to membrane|plasma membrane	protein binding	p.G3021G(1)		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)				CCACCACCTTCCCATTGGGGA	0.602000														171			9		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21097533	21097533	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:21097533G>A	uc001iqi.3	-	25	3064	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	889	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463000														48			35		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141419018	141419018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:141419018G>A	uc003vwn.2	+	3	1138	c.732G>A	c.(730-732)atG>atA	p.M244I	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	244	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCGCTCTATGAAAACTTTTA	0.323000														32			11		0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	102866891	102866891	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:102866891C>T	uc004bap.1	+	1	300	c.88C>T	c.(88-90)Cta>Tta	p.L30L	INVS_uc010mta.2_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Silent_p.L30L|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	30					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TAAGGGTGCTCTACAGAGGCT	0.413000														28			22		0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132018195	132018195	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:132018195G>A	uc003kxk.1	+	3	748	c.378G>A	c.(376-378)aaG>aaA	p.K126K	IL4_uc003kxl.1_Silent_p.K110K	NM_000589	NP_000580	P05112	IL4_HUMAN	Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.	126					B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GTCCTGTGAAGGAAGCCAACC	0.398000														8			37		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678293	6678294	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6678293_6678294CC>TT	uc002mfm.3	-	39	4781_4782	c.4719_4720GG>AA	c.(4717-4722)tcggat>tcAAat	p.D1574N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1574	NTR.				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)		TGCACCTCATCCGAGCCTGGAG	0.599000														36			25		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28595741	28595741	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:28595741C>A	uc001bps.3	+	1	534	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	46					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCAGCGCCTTCATCCCCG	0.557000														57			18		1.96292e-10	1.99733e-10	1	1	0
HMHA1	23526	broad.mit.edu	37	19	1080336	1080336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1080336G>A	uc002lqz.1	+	13	2017	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	HMHA1_uc010xgd.1_Missense_Mutation_p.E612K|HMHA1_uc010xge.1_Missense_Mutation_p.E436K|HMHA1_uc002lra.1_Missense_Mutation_p.E436K|HMHA1_uc002lrb.1_Missense_Mutation_p.E479K|HMHA1_uc002lrc.1_Missense_Mutation_p.E231K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CCCCCCAGAAGAAGGCGGGTG	0.706000														30			13		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005282	120005282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:120005282G>A	uc002tlp.3	+	3	677	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	STEAP3_uc002tlq.3_Missense_Mutation_p.A184T|STEAP3_uc002tlr.3_Missense_Mutation_p.A174T|STEAP3_uc010fle.3_Missense_Mutation_p.A174T	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	174					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCAGCCAGAAGCCAAGCGTGC	0.667000														5			9		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691349	153691349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:153691349G>A	uc003imy.3	-	1	1629	c.808C>T	c.(808-810)Cga>Tga	p.R270*	TIGD4_uc021xtf.1_Nonsense_Mutation_p.R270*	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	270	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding	p.R270*(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCAAGCTTTCGCATCCATTGT	0.403000														87			33		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7895934	7895934	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:7895934C>T	uc001aop.3	+	18	3551	c.3327C>T	c.(3325-3327)gcC>gcT	p.A1109A	PER3_uc001aoo.3_Silent_p.A1100A|PER3_uc010nzw.2_Silent_p.A789A	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	1100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTAATGTCGCCGAAGAGCCCA	0.423000														39			17		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497604	52497604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52497604G>A	uc002pyf.2	-	6	1075	c.758C>T	c.(757-759)tCc>tTc	p.S253F	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.S242F|ZNF615_uc002pyh.2_Missense_Mutation_p.S253F|ZNF615_uc010epi.2_Missense_Mutation_p.S249F|ZNF615_uc002pyg.2_Missense_Mutation_p.S134F|ZNF615_uc010ydg.2_Missense_Mutation_p.S247F	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T253I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGATTTTCTGGAGAAAGCTTT	0.408000														63			48		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394769	52394769	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52394769A>C	uc002pxy.3	-	4	946	c.620T>G	c.(619-621)gTg>gGg	p.V207G	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CAAGCTACACACGTGGGGTTT	0.488000														58			4		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:64394104G>A	uc003pep.1	+	2	506	c.481G>A	c.(481-483)Gca>Aca	p.A161T	PHF3_uc010kaf.1_Missense_Mutation_p.A161T|PHF3_uc003pem.2_Missense_Mutation_p.A114T|PHF3_uc010kag.1_Missense_Mutation_p.A73T|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Missense_Mutation_p.A73T|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.A161T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	161					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393000														262			80		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135926253	135926253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:135926253C>T	uc010fnf.3	+	24	2912	c.2869C>T	c.(2869-2871)Ccc>Tcc	p.P957S	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.P950S|RAB3GAP1_uc010fng.3_Missense_Mutation_p.P775S|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	950						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.P956T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGCCCTGCTCCCTACTCCAA	0.537000														75			29		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922179	78922179	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:78922179C>T	uc002bed.1	-	4	580	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	156					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGTACTTCACCTCAATCTTGC	0.562000														4			45		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159755	152159755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:152159755G>A	uc022chn.1	-	0	388	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PNMA5_uc010ntx.3_Missense_Mutation_p.P130S|PNMA5_uc010ntw.3_Missense_Mutation_p.P130S|PNMA5_uc004fgy.4_Missense_Mutation_p.P130S|PNMA5_uc022chm.1_Missense_Mutation_p.P130S	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	130					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ctctcggcagggaggctgcaa	0.502000														11			111		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904116	21904116	+	RNA	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:21904116G>A	uc002gza.2	+	0		c.55G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cggctgccaggagtcgcaagg	0.692000														87			4		0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100249954	100249954	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:100249954C>A	uc001kpn.2	-	10	1394	c.1321_splice	c.e10-1	p.D441_splice	HPSE2_uc009xwc.2_Splice_Site_p.D441_splice|HPSE2_uc001kpo.2_Splice_Site_p.D383_splice|HPSE2_uc009xwd.2_Splice_Site_p.D329_splice	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	441					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCAGTAGTCCTGAGGAGAAT	0.577000														32			12		4.36969e-10	4.44305e-10	1	1	0
C19orf75	284369	broad.mit.edu	37	19	51769074	51769074	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51769074C>T	uc002pwb.1	+	3	729	c.348C>T	c.(346-348)atC>atT	p.I116I	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.I22I	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	116						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AAGGGCTGATCCAGGGTGCTA	0.512000														204			157		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40468952	40468952	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:40468952A>C	uc003ckd.4	+	10	1635	c.1543A>C	c.(1543-1545)Aag>Cag	p.K515Q	ENTPD3_uc010hhy.3_Missense_Mutation_p.K515Q|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	515						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AACCAGAAGAAAGAGGCACTC	0.537000														35			25		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69972190	69972190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:69972190G>A	uc001opj.3	+	9	1291	c.986G>A	c.(985-987)gGc>gAc	p.G329D	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.G301D|ANO1_uc010rqk.2_Missense_Mutation_p.G64D	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	329					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCGGCCTGTACTTC	0.552000														108			45		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920117	155920117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155920117G>A	uc001fmu.2	-	24	3247	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R192C|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R926C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R953C|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R954C	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	954					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGACAGACGGCTGCTACCT	0.622000														128			45		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022401	100022402	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:100022401_100022402GG>AA	uc002tad.3	-	16	2993_2994	c.2781_2782CC>TT	c.(2779-2784)aacctg>aaTTtg	p.927_928NL>NL	REV1_uc002tac.3_Silent_p.926_927NL>NL	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	927					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTATACTCAGGTTAAGTCTCG	0.401000								Direct reversal of damage						17			59		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15045731	15045731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:15045731C>T	uc002dcy.4	+	7	902	c.902C>T	c.(901-903)gCg>gTg	p.A301V	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	301	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CCACCCTCAGCGGATGATAAT	0.557000														174			10		0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417383	120417383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:120417383G>A	uc003edx.3	-	4	451	c.421C>T	c.(421-423)Cca>Tca	p.P141S		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	141	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ACCAACAGTGGTATTTGGTTA	0.368000														237			175		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180383312	180383312	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:180383312G>A	uc002unn.4	-	4	1054	c.450C>T	c.(448-450)ccC>ccT	p.P150P	ZNF385B_uc002unj.3_Silent_p.P48P|ZNF385B_uc002unl.3_Silent_p.P47P|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.P74P	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	150						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCTTCTTTGGGGGAATGGATA	0.348000														14			53		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164396	139164396	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:139164396G>A	uc003yuy.3	-	12	2493	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P	FAM135B_uc003yux.3_Silent_p.P675P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.P336P|FAM135B_uc003yvb.3_Silent_p.P336P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	774								p.A773V(1)		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)			TACTGATGTGGGGAGCAGATA	0.522000										HNSCC(54;0.14)				40			32		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283498	33283498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33283498G>A	uc003oeb.3	-	1	1348	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S399L|ZBTB22_uc021ywm.1_Missense_Mutation_p.S399L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGCCCCCCTGAGTCATCAAG	0.617000														213			108		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330475	125330475	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:125330475G>A	uc004bmp.1	-	0	282	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						ACCCAGCATAGGAGATGGTCT	0.463000														38			22		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33569341	33569341	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:33569341C>T	uc021qfs.1	+	2	2650	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	C11orf41_uc001mun.1_Silent_p.I848I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	842						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GAGTGCAGATCAGTGAATCCT	0.488000														12			10		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368372	72368372	+	Missense_Mutation	SNP	G	A	A	rs138844667		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72368372G>A	uc021ucp.1	+	3	1022	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	GPR142_uc010wqy.2_Missense_Mutation_p.R341Q	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	341						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACCGGCTACGGAGGAGGGGC	0.637000														23			12		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802714	7802714	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7802714C>T	uc002gjd.2	+	14	2576	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	CHD3_uc002gje.2_Silent_p.N799N|CHD3_uc002gjf.2_Silent_p.N799N	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	799	Helicase ATP-binding.				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)				CCATCATTAACTGGGAGCGGG	0.537000														18			130		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70490067	70490067	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:70490067G>A	uc001xlt.2	+	10	1476	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	SMOC1_uc001xls.2_Silent_p.K398K	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	398	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.K398N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAAGCCCAAGAAATGTGCCC	0.512000														10			101		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351074	50351074	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:50351074A>T	uc004dpe.2	-	5	3094	c.3068T>A	c.(3067-3069)cTc>cAc	p.L1023H	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1023					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTCTCCAAGGAGGTCAAGAGA	0.502000														2			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9013857	9013857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9013857G>A	uc002mkp.3	-	32	38737	c.38533C>T	c.(38533-38535)Ccc>Tcc	p.P12845S	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12847				Missing (in Ref. 3; AAK74120).	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						GTAGGGCTGGGGAGGGAGGAT	0.478000														20			14		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811541	39811541	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39811541C>T	uc003axt.3	+	2	256	c.207C>T	c.(205-207)aaC>aaT	p.N69N	TAB1_uc003axr.3_Silent_p.N145N|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Silent_p.N69N	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	69	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGGTCTTCAACGGCTATGATG	0.622000														136			19		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914376	117914376	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:117914376C>T	uc001two.2	-	16	2443	c.2388G>A	c.(2386-2388)caG>caA	p.Q796Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	825	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGCCATTCTGGATGCGCA	0.587000														9			6		0	0	1	0	0
CCDC99	54908	broad.mit.edu	37	5	169021206	169021206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:169021206C>T	uc003mae.4	+	4	868	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	CCDC99_uc010jjj.3_Missense_Mutation_p.L126F|CCDC99_uc011deq.2_Missense_Mutation_p.L14F|CCDC99_uc010jjk.3_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	197					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)			GCTAGAACTTCTTATTACTAA	0.383000														23			11		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52516637	52516637	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:52516637G>A	uc001vfw.2	-	14	3454	c.3297C>T	c.(3295-3297)ggC>ggT	p.G1099G	ATP7B_uc001vfy.2_Silent_p.G988G|ATP7B_uc010adv.2_Silent_p.G669G|ATP7B_uc001vfx.2_Silent_p.G892G|ATP7B_uc010tgt.1_Silent_p.G1034G|ATP7B_uc010tgu.1_Silent_p.G1051G|ATP7B_uc010tgv.1_Silent_p.G1021G|ATP7B_uc001vfv.2_Silent_p.G371G|ATP7B_uc010tgs.1_Silent_p.G310G	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1099			G -> S (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAATTCCACAGCCTGGCACTG	0.577000									Wilson disease					99			47		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36776168	36776168	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:36776168C>T	uc010tei.2	-	6	657	c.342G>A	c.(340-342)caG>caA	p.Q114Q	CCDC169-SOHLH2_uc001uvj.3_Silent_p.Q37Q	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	114					regulation of transcription, DNA-dependent	nucleus											CAAATAGTTTCTGTACAGTAT	0.428000														72			23		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2524340	2524340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:2524340G>A	uc001ajy.2	-	19	2147	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	645					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GACTGCTCCCGGAAGTGCTGG	0.607000														131			23		0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120652670	120652670	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120652670G>A	uc001txv.3	-	7	1420	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	PXN_uc001txu.3_Silent_p.L224L|PXN_uc001txx.3_Silent_p.L245L|PXN_uc001txt.3_Silent_p.L412L|PXN_uc001txy.3_Silent_p.L378L|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	412	LIM zinc-binding 2.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.D425D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGGGAGAAGAGGTTGTGGT	0.617000														51			38		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614987	7614987	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7614987C>T	uc010xjq.2	+	15	2070	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	PNPLA6_uc002mgq.2_Silent_p.S562S|PNPLA6_uc010xjp.2_Silent_p.S536S|PNPLA6_uc002mgr.2_Silent_p.S562S|PNPLA6_uc002mgs.3_Silent_p.S601S	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	601					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTCCAAGTCCGACTTCTATG	0.622000														73			49		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569252	99569252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:99569252C>T	uc003dtm.3	-	4	1731	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R423K|FILIP1L_uc010hpf.3_5'UTR|FILIP1L_uc010hpg.3_Missense_Mutation_p.R183K|FILIP1L_uc003dtn.3_Missense_Mutation_p.R183K|FILIP1L_uc021xbr.1_Missense_Mutation_p.R183K|FILIP1L_uc003dtp.1_Missense_Mutation_p.R183K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	423						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						AGCCATAATTCTTTTACTGAG	0.363000														33			6		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288114	61288114	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61288114A>G	uc002ydb.1	+	1	513	c.308A>G	c.(307-309)aAg>aGg	p.K103R		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	103					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AACACGCCCAAGGGCATCCTG	0.652000														48			31		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809476	18809477	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:18809476_18809477CC>AG	uc001bax.3	+	0	2053_2054	c.2001_2002CC>AG	c.(1999-2004)gaccgc>gaAGgc	p.667_668DR>EG	KLHDC7A_uc009vpg.3_Missense_Mutation_p.449_450DR>EG	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	667						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)		GCAGCAAGGACCGCACGGCCGA	0.683000														33			15		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128674731	128674731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:128674731G>A	uc004euq.3	+	1	215	c.50G>A	c.(49-51)gGt>gAt	p.G17D	OCRL_uc004eur.3_Missense_Mutation_p.G17D	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	17					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACTGTCGAGGGTATGGAGATG	0.637000														11			51		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343158	40343158	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40343158A>G	uc002hzd.3	-	4	1444	c.960T>C	c.(958-960)ttT>ttC	p.F320F	GHDC_uc002hzg.2_Silent_p.F320F|GHDC_uc010wgg.2_Silent_p.F281F|GHDC_uc002hze.4_Silent_p.F320F|GHDC_uc002hzf.4_Silent_p.F320F	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	320						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCAGCTCGATAAAGGGGGCCC	0.627000														13			37		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063813	7063813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7063813G>A	uc001mfb.1	+	3	879	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	186	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAGCTGCTGGAGTTGGGAA	0.463000														37			42		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386057	61386057	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61386057C>T	uc002ydf.3	+	1	1106	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	245						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCATGTCCTTCATATTCCCCA	0.607000														240			44		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3991526	3991526	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:3991526G>T	uc003smx.3	+	6	1263	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	375	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAACCGGCCAGGGCGACGGCC	0.587000														38			10		1.49906e-05	1.50881e-05	1	1	0
AMBN	258	broad.mit.edu	37	4	71472162	71472162	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:71472162C>T	uc003hfl.3	+	12	1160	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	353					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGCAGGGCTCCTTGCTCTCC	0.592000														15			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76506498	76506499	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76506498_76506499CC>TT	uc010dhp.2	-	26	4328_4329	c.4203_4204GG>AA	c.(4201-4206)gtggac>gtAAac	p.D1402N		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)			ACGGCCTTGTCCACGATGTTGC	0.540000														170			75		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83800043	83800043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83800043G>A	uc003hnh.3	-	3	422	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SEC31A_uc011ccl.2_Missense_Mutation_p.S81F|SEC31A_uc003hnl.3_Missense_Mutation_p.S81F|SEC31A_uc003hng.3_Missense_Mutation_p.S81F|SEC31A_uc011ccm.2_Missense_Mutation_p.S76F|SEC31A_uc003hni.3_Missense_Mutation_p.S81F|SEC31A_uc003hnk.3_Missense_Mutation_p.S81F|SEC31A_uc003hnf.3_Missense_Mutation_p.S81F|SEC31A_uc011ccn.2_Missense_Mutation_p.S81F|SEC31A_uc003hnm.3_Missense_Mutation_p.S81F|SEC31A_uc003hnn.2_Missense_Mutation_p.S81F|SEC31A_uc003hno.3_Missense_Mutation_p.S81F	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	81					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATCTCCTTTGGAATCCATTTT	0.338000														37			13		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47855819	47855819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:47855819T>C	uc002xuh.3	+	15	1995	c.1934T>C	c.(1933-1935)gTc>gCc	p.V645A		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	645						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGCAGTGGTCCAAGAGCCC	0.493000														46			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412758	179412758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179412758C>T	uc021vsy.1	-	287	86116	c.85891G>A	c.(85891-85893)Gaa>Aaa	p.E28631K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22326K|TTN_uc021vta.1_Missense_Mutation_p.E22259K|TTN_uc021vtb.1_Missense_Mutation_p.E22134K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29558	Fibronectin type-III 108.						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)			GAGAAGGCTTCTCTGGGTTCA	0.453000														0			18		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953163	56953164	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56953163_56953164GG>AA	uc002qne.3	-	6	1991_1992	c.1200_1201CC>TT	c.(1198-1203)tccctt>tcTTtt	p.L401F	ZNF667_uc010etl.3_Missense_Mutation_p.L183F|ZNF667_uc002qnd.3_Missense_Mutation_p.L401F|ZNF667_uc010etm.3_Missense_Mutation_p.L344F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTTGAATAAGGGATGAATGCC	0.356000														13			12		0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29524120	29524120	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:29524120A>T	uc003nmo.3	-	1	259	c.35T>A	c.(34-36)gTc>gAc	p.V12D	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	12	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTCGGAACGGACATGCACCTG	0.488000														32			31		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109940943	109940943	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109940943C>T	uc001top.3	+	13	2001	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	UBE3B_uc001toq.3_Silent_p.L466L|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.L466L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	466					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCTGTGTCCTCTACCAGACCT	0.522000														51			29		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316363	45316363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:45316363C>T	uc003bfn.3	-	2	279	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PHF21B_uc011aqk.2_Missense_Mutation_p.G31E|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.G43E|PHF21B_uc011aqm.1_Missense_Mutation_p.G31E	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	43							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGTGATCGTTCCCAAAGCCTG	0.627000														36			12		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122150	233122150	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:233122150C>A	uc001hvl.2	-	32	6163	c.5928G>T	c.(5926-5928)ctG>ctT	p.L1976L	PCNXL2_uc001hvk.1_Silent_p.L628L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1976	Ser-rich.					integral to membrane		p.E1975K(1)		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)				GCCTCTGGGCCAGCTCGTGCA	0.662000														5			8		0.0581538	0.0582374	1	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149516	52149516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52149516C>T	uc002pxf.4	-	1	535	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	139					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ATACCTGTCACCTCCAAGTTC	0.557000														66			42		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48026965	48026965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:48026965G>A	uc003tof.3	-	10	1133	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	SUN3_uc010kyq.3_Nonsense_Mutation_p.R258*|SUN3_uc003tog.3_Nonsense_Mutation_p.R346*|SUN3_uc011kcf.2_Nonsense_Mutation_p.R334*	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	346	SUN.					integral to membrane		p.R346L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTGAATCGATATAAACAA	0.383000														132			46		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727857	7727857	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7727857T>C	uc010rbf.2	-	0	85	c.85A>G	c.(85-87)Aaa>Gaa	p.K29E		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AACTTACCTTTGGGGAGCGAA	0.393000														5			3		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661201	90661201	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:90661201G>A	uc011eab.2	-	6	1498	c.624C>T	c.(622-624)ccC>ccT	p.P208P	BACH2_uc003pnw.3_Silent_p.P208P|BACH2_uc010kch.3_Silent_p.P208P	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	208						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGTCAGGCTCGGGCAGCAGGG	0.577000														36			13		0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821880	66821880	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:66821880A>T	uc002aqb.3	+	11	1370	c.1124A>T	c.(1123-1125)cAg>cTg	p.Q375L	ZWILCH_uc010bhu.1_Missense_Mutation_p.Q261L|ZWILCH_uc002aqa.3_Missense_Mutation_p.Q261L|ZWILCH_uc010bhv.3_Missense_Mutation_p.Q261L	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	375					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGATCATCCAGAGTCTACAA	0.398000														8			74		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460054	141460054	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:141460054T>A	uc002tvj.1	-	37	7064	c.6092A>T	c.(6091-6093)aAg>aTg	p.K2031M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2031					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E2030G(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)		AAGGACAACCTTCTCTGAGCC	0.418000										TSP Lung(27;0.18)				12			19		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50368795	50368795	+	RNA	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:50368795G>A	uc001nhe.2	+	1		c.99G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TGTAACTGTAGGTGAAATACA	0.318000														3			7		0	0	1	0	0
MTPN	136319	broad.mit.edu	37	7	135636300	135636300	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:135636300G>A	uc003vte.4	-	1	507	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	MTPN_uc010lmv.3_Intron	NM_145808	NP_665807	P58546	MTPN_HUMAN	Homo sapiens myotrophin (MTPN), mRNA.	51					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						AGAAATTCCAGGATTTCAAGC	0.388000														47			23		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701788	74701788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:74701788G>A	uc001dge.2	+	3	413	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.E116K|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E116K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E15K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	15						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTTACTAGATGAATGGAAGAA	0.299000														16			5		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738844	84738844	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:84738844G>A	uc021pvc.1	+	7	1578	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	NRG3_uc010qlz.1_Silent_p.R516R|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.R517R|NRG3_uc001kcp.2_Silent_p.R296R|NRG3_uc001kcq.2_Silent_p.R167R|NRG3_uc021pvd.1_Silent_p.R296R|NRG3_uc021pve.1_Silent_p.R321R|NRG3_uc021pvf.1_Silent_p.R167R|NRG3_uc021pvg.1_Silent_p.R321R|NRG3_uc021pvh.1_Silent_p.R105R|NRG3_uc021pvi.1_Silent_p.R347R|NRG3_uc021pvk.1_Silent_p.R33R|NRG3_uc001kcr.2_Silent_p.R167R|NRG3_uc021pvl.1_Silent_p.R167R	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	517					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGAATCAAGGATCCCAGACC	0.478000														18			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140165896	140165896	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140165896G>A	uc003lhb.2	+	0	21	c.21G>A	c.(19-21)ggG>ggA	p.G7G	PCDHAC2_uc003lha.2_Silent_p.G7G|PCDHAC2_uc003lgz.3_Silent_p.G7G	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	0					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)			CTAGGAGAGGGGGCCTGGGAG	0.502000														12			80		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698422	33698422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:33698422C>T	uc010edh.3	+	6	2347	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	LRP3_uc002nuk.4_Missense_Mutation_p.P626S	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	752	Poly-Pro.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGGAACCCCCCGCCCCCCTG	0.697000														5			6		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469847	72469847	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72469847G>A	uc002jkv.3	+	1	534	c.213G>A	c.(211-213)agG>agA	p.R71R	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	71	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CAGGAAAAAGGAACGGCCGAG	0.522000														47			25		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536813	90536813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:90536813G>A	uc010mqi.3	+	3	2020	c.1991G>A	c.(1990-1992)aGg>aAg	p.R664K	FAM75C1_uc004apq.4_Missense_Mutation_p.R647K	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCAAACACAGGTGGGGTCTA	0.522000														96			10		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140744261	140744261	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:140744261G>A	uc003yvh.2	-	21	3549	c.3534C>T	c.(3532-3534)acC>acT	p.T1178T	TRAPPC9_uc003yvj.2_Silent_p.T1080T	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	1080					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGAAGGAGACGGTGTCGTGCA	0.652000														14			4		0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74074526	74074526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74074526G>A	uc002sju.3	+	5	590	c.388G>A	c.(388-390)Gag>Aag	p.E130K	STAMBP_uc002sjs.3_Missense_Mutation_p.E130K|STAMBP_uc002sjv.3_Missense_Mutation_p.E130K	NM_006463	NP_998787	O95630	STABP_HUMAN	Homo sapiens STAM binding protein (STAMBP), transcript variant 1, mRNA.	130	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAAGGAAGCAGAGGAATTGGC	0.458000														13			31		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674278	4674278	+	Silent	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4674278C>G	uc021qcq.1	+	0	522	c.522C>G	c.(520-522)tcC>tcG	p.S174S	OR51E1_uc001lzi.4_Silent_p.S174S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	173					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)		TCTGCCGCTCCAATATCCTTT	0.537000														82			99		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396920	197396920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:197396920G>A	uc001gtz.3	+	6	2674	c.2465G>A	c.(2464-2466)tGg>tAg	p.W822*	CRB1_uc010poz.2_Nonsense_Mutation_p.W753*|CRB1_uc009wza.3_Nonsense_Mutation_p.W710*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Nonsense_Mutation_p.W303*|CRB1_uc001gub.1_Nonsense_Mutation_p.W471*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	822	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCTTCTACGTGGAAAATCGAA	0.373000														4			18		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4383338	4383338	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:4383338C>T	uc001qmo.3	+	0	437	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	44	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCTACTTCAAGTGCGTGC	0.652000			T	IGL@	"""NHL,CLL"""									55			50		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100123389	100123389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:100123389G>A	uc003yiv.3	+	5	755	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R215Q|VPS13B_uc003yit.3_Missense_Mutation_p.R215Q|VPS13B_uc003yiu.1_Missense_Mutation_p.R215Q|VPS13B_uc003yis.3_Missense_Mutation_p.R215Q|VPS13B_uc011lgy.2_Missense_Mutation_p.R91Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	215					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)			CTTGATAAACGGAATGCCAGT	0.303000														52			12		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684069	113684069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:113684069C>T	uc003eax.3	-	16	2891	c.2744G>A	c.(2743-2745)aGg>aAg	p.R915K		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	915										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTCGTGGTACCTTCCAGGTAC	0.403000														55			25		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061888	40061888	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:40061888C>T	uc003ayc.3	+	22	3981	c.3981C>T	c.(3979-3981)ctC>ctT	p.L1327L	CACNA1I_uc003ayd.3_Silent_p.L1292L|CACNA1I_uc003aye.3_Silent_p.L1242L|CACNA1I_uc003ayf.3_Silent_p.L1207L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1327					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTCCCCAGCTCTTCAAGGGCA	0.572000														208			134		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	T	T	rs151335014		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:98155083C>T	uc001kml.2	-	12	1828	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_uc009xvf.2_Silent_p.T507T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	529	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527000														42			31		0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	927101	927101	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:927101C>T	uc003sjl.1	+	3	503	c.411C>T	c.(409-411)tcC>tcT	p.S137S	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	137					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGGCTCCGGGAAGCTGG	0.642000														49			32		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23382520	23382520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:23382520T>A	uc001bgi.2	+	5	1068	c.919T>A	c.(919-921)Ttg>Atg	p.L307M	KDM1A_uc001bgj.2_Missense_Mutation_p.L327M	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	307	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCACACTTTTGGAAGCCAG	0.368000														49			20		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370273	126370273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:126370273G>A	uc001lhv.1	-	3	1332	c.809C>T	c.(808-810)cCg>cTg	p.P270L	FAM53B_uc001lhu.1_Missense_Mutation_p.P270L|FAM53B_uc001lhw.3_Missense_Mutation_p.P270L	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	270										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AAGGACACACGGCTGGGAGCG	0.582000														5			4		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73723752	73723752	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:73723752C>T	uc002jpg.3	+	4	472	c.285C>T	c.(283-285)acC>acT	p.T95T	ITGB4_uc002jph.3_Silent_p.T95T|ITGB4_uc010dgo.3_Silent_p.T95T|ITGB4_uc002jpi.4_Silent_p.T95T|ITGB4_uc010dgp.1_Silent_p.T95T|ITGB4_uc002jpj.3_Silent_p.T95T	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	95					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGACACCACCCTGCGGCGCA	0.682000														3			11		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756403	137756403	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:137756403T>G	uc003lcy.1	+	14	3924	c.3724T>G	c.(3724-3726)Tcc>Gcc	p.S1242A	KDM3B_uc010jew.1_Missense_Mutation_p.S898A|KDM3B_uc011cys.1_Missense_Mutation_p.S274A	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGAAGCAGGGTCCCTGAGGTC	0.458000														10			53		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131865363	131865363	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:131865363G>A	uc003vra.4	-	18	3850	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1207	IPT/TIG 4.					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						TGTGCCTGCCGATGAGGTTGG	0.597000														55			52		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236792	33236792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33236792C>T	uc001bvu.1	+	5	2056	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S623F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S612F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	612	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCCCCTTCTCCCCACCTCCC	0.642000														75			128		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237490146	237490146	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:237490146C>T	uc021vys.1	+	0	1038	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	CXCR7_uc010fyq.3_Silent_p.A346A|CXCR7_uc002vwd.3_Silent_p.A346A	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	346					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TCATCGATGCCTCCAGAGTCT	0.517000														11			35		0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16644417	16644417	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:16644417A>C	uc003sti.3	-	7	1184	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	314						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCCACAAAACCCACCTGG	0.423000														84			34		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686238	54686238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:54686238C>T	uc009znk.3	-	1	1552	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NFE2_uc001sfq.3_Missense_Mutation_p.E348K|NFE2_uc001sfr.4_Missense_Mutation_p.E348K|NFE2_uc009znl.3_Missense_Mutation_p.E348K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	348					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCGTACTCTTCAGGAGAGTAG	0.602000														65			43		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756838	56756838	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:56756838C>T	uc010rjp.2	+	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTTCATACATCATGGGCTCAA	0.438000														54			31		0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11735908	11735908	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:11735908G>A	uc011dip.2	-	4	741	c.453C>T	c.(451-453)ttC>ttT	p.F151F	ADTRP_uc003naa.3_Non-coding_Transcript|ADTRP_uc003nab.3_Silent_p.F133F	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	133						integral to membrane											TGGGGAATATGAAAGTGTGCT	0.507000														17			19		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205048	53205048	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:53205048C>T	uc002xwy.3	+	2	421	c.201C>T	c.(199-201)aaC>aaT	p.N67N		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	67	PH.						insulin receptor binding	p.N67K(2)|p.K66K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATGTGAAGAACGTAGCTCGAT	0.408000														109			26		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116824957	116824957	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116824957C>T	uc004bie.4	-	7	948	c.685_splice	c.e7+1	p.D229_splice	AMBP_uc011lxk.2_Splice_Site_p.D170_splice|AMBP_uc010mvc.1_Splice_Site	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	229					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTCATTACCTTCTTTCTTG	0.537000														50			30		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409679	7409679	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:7409679A>G	uc009xio.2	-	3	459	c.368T>C	c.(367-369)gTa>gCa	p.V123A	SFMBT2_uc001ijn.2_Missense_Mutation_p.V123A|SFMBT2_uc010qay.2_Missense_Mutation_p.V123A|SFMBT2_uc001ijo.2_Missense_Mutation_p.V123A	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	123					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGCGATGACTACGTCACACCA	0.602000														35			10		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574228	169574228	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169574228A>G	uc003fgc.1	-	4	784	c.719T>C	c.(718-720)gTt>gCt	p.V240A	LRRC31_uc010hwp.1_Missense_Mutation_p.V184A	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	240										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)			CAGACTGCCAACAATGTCTCT	0.378000														103			19		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033568	79033568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:79033568G>A	uc003kgc.3	+	1	9052	c.8980G>A	c.(8980-8982)Gat>Aat	p.D2994N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2994						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)		ACTCCCTGATGATAGTGAAAC	0.323000														1			13		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21846589	21846589	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:21846589C>T	uc003xaa.4	+	15	1965	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	621					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATGACCTGTCCATTGGATATC	0.438000														20			11		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929371	23929371	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:23929371G>A	uc001uon.2	-	7	1969	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	SACS_uc001uoo.2_Silent_p.L313L|SACS_uc001uop.1_Silent_p.L247L|SACS_uc001uoq.1_Silent_p.L313L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	460					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)		TGTGAACTGGGAGGCCTGTGC	0.493000														26			18		0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140394	69140394	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:69140394C>T	uc001suh.3	+	0	459	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	79	Poly-Leu.					integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GGCTCCTCCTCCTGGCCCTCA	0.577000														35			24		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44281867	44281867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:44281867G>A	uc003tkq.2	-	9	979	c.769C>T	c.(769-771)Cct>Tct	p.P257S	CAMK2B_uc003tkp.2_Missense_Mutation_p.P257S|CAMK2B_uc003tkr.2_Missense_Mutation_p.P257S|CAMK2B_uc003tks.2_Missense_Mutation_p.P257S|CAMK2B_uc003tku.2_Missense_Mutation_p.P257S|CAMK2B_uc003tkv.2_Missense_Mutation_p.P257S|CAMK2B_uc003tkt.2_Missense_Mutation_p.P257S|CAMK2B_uc003tkw.2_Missense_Mutation_p.P257S|CAMK2B_uc010kyc.2_Missense_Mutation_p.P257S	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	257	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGCTTGGCAGGGTTGATGGTC	0.632000														80			68		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476070	6476070	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:6476070C>T	uc003sqa.3	-	2	512	c.342G>A	c.(340-342)ctG>ctA	p.L114L	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Silent_p.L114L|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Silent_p.L73L|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	114					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGCAGCCCCCAGAGAGGCCC	0.537000														73			80		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99883615	99883615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:99883615G>A	uc003ppx.2	-	17	2955	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	USP45_uc003ppv.2_Non-coding_Transcript|USP45_uc003ppw.2_Missense_Mutation_p.L488F	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	808					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCATAGAAAAGAAGGTAGGCT	0.368000														7			40		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91832897	91832897	+	Missense_Mutation	SNP	C	T	T	rs150512068	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:91832897C>T	uc002bqv.3	+	12	2746	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.P468S	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	619					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGAGCTGTATCCCACCAACCA	0.532000														7			18		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53818111	53818111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:53818111C>T	uc001scx.2	+	1	169	c.89C>T	c.(88-90)cCt>cTt	p.P30L	AMHR2_uc009zmy.2_Missense_Mutation_p.P30L|AMHR2_uc021qyg.1_Missense_Mutation_p.P30L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	30					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)	TTTGAGGCCCCTGGAGTGCGG	0.572000														22			22		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79354082	79354082	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:79354082C>T	uc021yaw.1	+	3	785	c.594C>T	c.(592-594)gcC>gcT	p.A198A		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	198					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCAGGTGGCCAGCCTGCAAG	0.527000														3			8		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53980363	53980363	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:53980363C>T	uc001cvr.1	-	6	1860	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	431					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGGTGGCATCCAGCGGGTGGT	0.642000														75			51		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724400	145724400	+	Silent	SNP	G	A	A	rs114186172	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:145724400G>A	uc003zdd.3	+	3	1345	c.432G>A	c.(430-432)gcG>gcA	p.A144A	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Silent_p.A144A	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	144						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			TGCATGCTGCGGCCACCTGCG	0.627000														88			9		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823126	107823126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:107823126C>T	uc001vql.3	-	2	1612	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	366						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGAAAGGTTTCATAAAGCCCT	0.423000														43			10		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100497169	100497169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:100497169G>A	uc003dun.3	-	25	2244	c.2159C>T	c.(2158-2160)cCt>cTt	p.P720L	ABI3BP_uc003duj.3_Missense_Mutation_p.P300L|ABI3BP_uc003duk.3_Missense_Mutation_p.P429L|ABI3BP_uc003dul.3_Missense_Mutation_p.P550L|ABI3BP_uc011bhd.2_Missense_Mutation_p.P674L|ABI3BP_uc003dum.3_Missense_Mutation_p.P131L	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	720	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						TGGTGGTAAAGGTTTTCTTCG	0.458000														60			14		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023936	25023936	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:25023936C>T	uc003aan.1	+	12	1813	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	GGT1_uc003aas.1_Silent_p.F442F|GGT1_uc003aat.1_Silent_p.F442F|GGT1_uc003aau.2_Silent_p.F442F|GGT1_uc003aav.2_Silent_p.F442F|GGT1_uc003aaw.2_Silent_p.F442F|GGT1_uc003aax.2_Silent_p.F442F|GGT1_uc003aay.1_Silent_p.F98F	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	442					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGCCAATTTCATCCAGCCAG	0.627000														173			140		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427432	71427432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:71427432C>T	uc004eaq.1	-	1	1282	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.M272I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	395					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGCGCGTCTCCATTAGCAACT	0.413000														31			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059493	9059493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9059493G>A	uc002mkp.3	-	2	28157	c.27953C>T	c.(27952-27954)aCt>aTt	p.T9318I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9320	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						GGAGACCTCAGTAGTAGCACC	0.512000														46			31		0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704556	29704557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:29704556_29704557CC>TT	uc003afa.1	+	1	660_661	c.461_462CC>TT	c.(460-462)gcc>gTT	p.A154V	GAS2L1_uc010gvm.1_Missense_Mutation_p.A154V|GAS2L1_uc003afb.1_Missense_Mutation_p.A154V|GAS2L1_uc003afc.1_Missense_Mutation_p.A154V|GAS2L1_uc003afd.1_Missense_Mutation_p.A154V|GAS2L1_uc003afe.1_Missense_Mutation_p.A154V	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	154					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GGCCTGCTGGCCCCACGCCTCG	0.673000														15			8		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795610	17795610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:17795610G>A	uc003zna.3	+	8	1216	c.928G>A	c.(928-930)Gga>Aga	p.G310R	SH3GL2_uc011lmy.2_Missense_Mutation_p.G263R	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	310	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGGGGAGTTGGGATTTAAAGA	0.478000														6			8		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169144387	169144387	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:169144387G>A	uc003maf.3	+	21	2112	c.2032_splice	c.e21-1	p.I678_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.I170_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	678					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCCTCAGATTTACATAA	0.463000														12			48		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067186	66067186	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:66067186G>A	uc001dci.3	+	8	1495	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	LEPR_uc001dcg.3_Nonsense_Mutation_p.W369*|LEPR_uc001dch.3_Nonsense_Mutation_p.W369*|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Nonsense_Mutation_p.W369*|LEPR_uc001dcj.3_Nonsense_Mutation_p.W369*|LEPR_uc001dck.3_Nonsense_Mutation_p.W369*	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	369	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTGGTGGATGAATTTA	0.353000														61			16		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72416259	72416259	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:72416259C>T	uc009zrw.1	+	8	1290	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	TPH2_uc001swy.2_Silent_p.S293S	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	383					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCCTTTCCTCCATTGGAGAAT	0.423000														18			14		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830075	72830075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:72830075G>A	uc002fck.3	-	8	7179	c.6506C>T	c.(6505-6507)tCc>tTc	p.S2169F	ZFHX3_uc002fcl.3_Missense_Mutation_p.S1255F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2169					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCACTGGGGGAGTTGTTAAT	0.502000														45			53		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481998	38481998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:38481998C>T	uc010ive.1	-	19	3325	c.2993G>A	c.(2992-2994)gGg>gAg	p.G998E	LIFR_uc003jli.2_Missense_Mutation_p.G998E	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	998					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAGCCTGCCCCTCCTACAGG	0.458000			T	PLAG1	salivary adenoma									42			32		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225058	49225058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:49225058C>T	uc010zyt.2	-	10	1075	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R271Q|FAM65C_uc002xvn.1_Missense_Mutation_p.R271Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	271										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCAGGCCCCGCAACTCCGT	0.682000														120			103		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422613	6422613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6422613G>A	uc001mdb.1	-	9	1644	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	APBB1_uc001mdd.3_Missense_Mutation_p.S295F|APBB1_uc001mdc.1_Missense_Mutation_p.S515F|APBB1_uc010rab.2_Missense_Mutation_p.S42F|APBB1_uc010rad.2_Missense_Mutation_p.S234F	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.	517					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)		GTGGTCCAGGGAGAGTCCATT	0.547000														50			33		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61689437	61689437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:61689437G>A	uc002eog.2	-	10	2798	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	615	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAATTGGAAGGACATAAGCT	0.478000														58			18		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	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														29			11		0	0	1	0	0
PTGER1	5731	broad.mit.edu	37	19	14583464	14583464	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14583464T>G	uc002mys.3	-	2	1235	c.1117A>C	c.(1117-1119)Aag>Cag	p.K373Q		NM_000955	NP_000946	P34995	PE2R1_HUMAN	Homo sapiens prostaglandin E receptor 1 (subtype EP1), 42kDa (PTGER1), mRNA.	373						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	GGGCCGCCCTTGGCTCCGGCC	0.697000														4			3		0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40715075	40715075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:40715075G>A	uc002yxo.3	-	5	470	c.266C>T	c.(265-267)tCt>tTt	p.S89F	HMGN1_uc021wjh.1_Non-coding_Transcript	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	89					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TGCTTCATCAGAGGCTGGACT	0.368000														51			22		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766169	57766169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57766169C>T	uc002yan.3	+	0	95	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	32	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCAGGCCTCACCTCACCTG	0.697000														24			20		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47315947	47315947	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:47315947C>T	uc001vbk.3	+	19	2492	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	LRCH1_uc001vbj.3_Silent_p.V717V|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	717										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TAGTGCTGGTCTATATCACTT	0.532000														232			90		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129103954	129103954	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:129103954C>T	uc011koy.2	+	14	1661	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	FAM40B_uc003vow.3_Silent_p.L541L|FAM40B_uc011koz.2_Silent_p.L33L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	541										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						TATCAATATCCTGGCAGATGT	0.493000														50			29		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436563	436563	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:436563T>C	uc003gaf.4	-	2	2015	c.1789A>G	c.(1789-1791)Acc>Gcc	p.T597A	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.T565A|ABCA11P_uc010ibe.3_Missense_Mutation_p.T553A	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGTCTAAAGGTTTTGCCACAT	0.418000														137			4		0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027898	94027899	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:94027898_94027899CC>GT	uc003kkr.4	+	19	2712_2713	c.2632_2633CC>GT	c.(2632-2634)cct>GTt	p.P878V	ANKRD32_uc003kks.3_Missense_Mutation_p.P242V	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	878										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CGGGGTGACTCCTTTGCATGAT	0.446000														24			19		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96300182	96300182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:96300182C>T	uc001tek.2	-	4	586	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	118										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGAAACCTGTCTCTCTGGTCA	0.353000														23			20		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23664332	23664332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:23664332C>T	uc001bgr.4	-	3	458	c.299G>A	c.(298-300)gGa>gAa	p.G100E	HNRNPR_uc010odw.2_Missense_Mutation_p.G100E|HNRNPR_uc009vql.3_5'UTR|HNRNPR_uc001bgp.4_Missense_Mutation_p.G100E|HNRNPR_uc001bgs.4_5'UTR|HNRNPR_uc009vqk.3_5'UTR|HNRNPR_uc010odx.2_5'UTR	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	100	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCATAACTCCACATAAAAA	0.363000														39			55		0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100211643	100211644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:100211643_100211644CC>TT	uc001voj.1	+	15	1912_1913	c.1779_1780CC>TT	c.(1777-1782)ttcctt>ttTTtt	p.L594F	TM9SF2_uc010afz.1_Missense_Mutation_p.L429F	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	594					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCGTTCATTCCTTACGAGTGG	0.351000														52			5		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816329	29816330	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:29816329_29816330CC>AT	uc002dts.3	+	11	1895_1896	c.1872_1873CC>AT	c.(1870-1875)ctccac>ctATac	p.H625Y	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.H557Y|KIF22_uc010vdw.1_Missense_Mutation_p.H557Y|KIF22_uc002frc.1_Non-coding_Transcript|MAZ_uc010vdx.2_5'Flank|MAZ_uc002dtx.3_5'Flank|MAZ_uc002dty.3_5'Flank|MAZ_uc002dtz.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	625					DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGCGGGAGCTCCACGGCCCCTT	0.658000														49			17		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816306	6816306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6816306G>A	uc001mes.1	-	0	834	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCCTAGAAGAATAAAAATG	0.488000														37			27		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372999	24372999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:24372999C>T	uc002dmf.3	+	3	1965	c.763C>T	c.(763-765)Cac>Tac	p.H255Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	255					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAAAGGCTTCCACACCATCCC	0.612000														51			62		0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7079364	7079364	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7079364G>A	uc021quf.1	-	1	417	c.207C>T	c.(205-207)caC>caT	p.H69H	PHB2_uc021qug.1_Silent_p.H69H|PHB2_uc010sft.1_Silent_p.H69H|PHB2_uc010sfu.1_Silent_p.H69H|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.4_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	69					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						ATTACCTGAAGTGAAGGCCCT	0.597000														161			12		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:2676817C>T	uc009zdu.1	+	12	2065	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_uc001qkc.2_Silent_p.F584F|CACNA1C_uc001qjz.2_Silent_p.F584F|CACNA1C_uc001qkd.2_Silent_p.F584F|CACNA1C_uc001qke.2_Silent_p.F584F|CACNA1C_uc001qkf.2_Silent_p.F584F|CACNA1C_uc009zdw.1_Silent_p.F584F|CACNA1C_uc001qkg.2_Silent_p.F584F|CACNA1C_uc001qkh.2_Silent_p.F584F|CACNA1C_uc001qkl.2_Silent_p.F584F|CACNA1C_uc001qkj.2_Silent_p.F584F|CACNA1C_uc001qkk.2_Silent_p.F584F|CACNA1C_uc001qkn.2_Silent_p.F584F|CACNA1C_uc001qkm.2_Silent_p.F584F|CACNA1C_uc001qko.2_Silent_p.F584F|CACNA1C_uc001qkp.2_Silent_p.F584F|CACNA1C_uc001qkq.2_Silent_p.F584F|CACNA1C_uc001qku.2_Silent_p.F584F|CACNA1C_uc001qkr.2_Silent_p.F584F|CACNA1C_uc001qks.2_Silent_p.F584F|CACNA1C_uc001qkt.2_Silent_p.F584F|CACNA1C_uc009zdv.1_Silent_p.F581F|CACNA1C_uc001qkb.2_Silent_p.F584F|CACNA1C_uc001qka.1_Silent_p.F119F|CACNA1C_uc001qki.1_Silent_p.F320F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	584					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTACTTCGTGTCCCTCT	0.607000														14			6		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980740	74980740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:74980740G>A	uc002lms.4	+	2	1429	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	311					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAAAATTTCAGGAAGGCCTAT	0.448000														35			13		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934248	69934248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:69934248C>T	uc001jnm.4	+	11	2584	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	MYPN_uc001jnn.4_Missense_Mutation_p.S525F|MYPN_uc001jno.4_Missense_Mutation_p.S800F|MYPN_uc009xpt.3_Missense_Mutation_p.S800F|MYPN_uc010qit.2_Missense_Mutation_p.S506F|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	800	Pro-rich.					nucleus|sarcomere	actin binding	p.S800P(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCACATTTTCCATCCCCAGC	0.547000														28			22		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616108	73616108	+	Missense_Mutation	SNP	G	A	A	rs148714049		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:73616108G>A	uc002avp.3	-	7	3320	c.2326C>T	c.(2326-2328)Ccg>Tcg	p.P776S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	776					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGATCAGCGGGGTCCAGATG	0.687000														6			31		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853322	143853322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:143853322C>T	uc003lnm.1	+	3	1561	c.932C>T	c.(931-933)tCc>tTc	p.S311F	KCTD16_uc003lnn.1_Missense_Mutation_p.S311F	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	311						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)			AATGACCTCTCCACATCTAGC	0.582000														9			54		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947086	105947086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:105947086G>A	uc001kxw.3	-	13	1968	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Missense_Mutation_p.P619S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	618										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTCTTCAGGAAGAAGGTAG	0.398000														26			13		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3788618G>A	uc002cvv.3	-	25	4540	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_uc002cvw.3_Missense_Mutation_p.R1408C	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1446	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(12)|p.R1446H(4)|p.R1446L(3)|p.R1446G(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							37			13		0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130825874	130825874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130825874G>A	uc004bta.3	-	1	1036	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	NAIF1_uc022bnv.1_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	273					apoptosis|induction of apoptosis	nucleus		p.Q273L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCATGGCCTGGGCCTGGCGC	0.612000														24			18		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168821	110168821	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110168821C>T	uc009wfh.1	+	4	1097	c.555C>T	c.(553-555)ttC>ttT	p.F185F	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.F104F|AMPD2_uc001dyc.1_Silent_p.F185F|AMPD2_uc010ovr.1_Silent_p.F110F|AMPD2_uc010ovs.1_Silent_p.F67F|AMPD2_uc001dyd.1_Silent_p.F66F	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	185					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAAGATTTCCTGAAGACGG	0.632000														49			21		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842962	7842962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7842962C>T	uc001qte.3	-	1	643	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	203					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.E203K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCAGTATCTCCAGGAATAAC	0.502000														51			31		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331743	107331743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:107331743G>A	uc011lvo.2	+	0	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGTGTATGGTGCAAATGTT	0.483000														38			16		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135630212	135630212	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:135630212G>A	uc002ttz.3	+	8	916	c.849_splice	c.e8+1	p.K283_splice	ACMSD_uc002tua.3_Splice_Site_p.K225_splice|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	283					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CATAGGAAAGGTAAGCCCAGT	0.478000														10			33		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41064601	41064601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:41064601C>T	uc003jmj.4	-	4	923	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	HEATR7B2_uc021xxt.1_Missense_Mutation_p.E145K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	145							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						TTCATCCTTTCATCCTCGGCC	0.463000														6			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167790	6167790	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:6167790C>T	uc003mwv.3	-	12	1932	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	F13A1_uc011dib.2_Silent_p.A540A	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	603					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A603G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGTGCAGGGACGCTTGTTCCA	0.527000														43			13		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632953	143632954	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143632953_143632954CC>TT	uc011ktv.2	+	0	628_629	c.628_629CC>TT	c.(628-630)cct>TTt	p.P210F		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTGATGACACCTTTCTGCCTG	0.505000														53			34		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973980	143973980	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:143973980A>C	uc002tvm.4	+	3	413	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q	ARHGAP15_uc010zbl.1_Missense_Mutation_p.K88Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	88	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TTATCTGCAAAAAGCTAAAAT	0.313000														33			12		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497721	28497721	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:28497721G>A	uc002dpo.3	-	7	947	c.624C>T	c.(622-624)tcC>tcT	p.S208S	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Silent_p.S130S|CLN3_uc002dpm.3_Silent_p.S154S|CLN3_uc010vcu.2_Silent_p.S108S|CLN3_uc010vcv.2_Silent_p.S184S|CLN3_uc002dpp.3_Silent_p.S208S|CLN3_uc021tfs.1_Intron|CLN3_uc002dpt.1_Silent_p.S108S|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Silent_p.S208S|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Silent_p.S154S|CLN3_uc002dqa.2_Silent_p.S259S|CLN3_uc010vcx.1_Silent_p.S108S|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	208					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTGCTGAGGGGAGAGGCCGG	0.682000														14			23		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274193	103274193	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:103274193G>T	uc002tca.3	+	1	602	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	154						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						GCTGGATGCCGGCTATTTCAT	0.478000														65			235		5.96336e-116	6.16701e-116	1	1	0
EHD2	30846	broad.mit.edu	37	19	48239706	48239706	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:48239706C>T	uc002phj.4	+	4	1246	c.996C>T	c.(994-996)atC>atT	p.I332I	EHD2_uc010xyu.2_Silent_p.I196I	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	332					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGCAGCTGATCCTCAAACTGC	0.517000														66			31		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272113	47272113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:47272113G>A	uc004dhr.1	+	3	710	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	214					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACTCACACAGGGGAGAGGCCC	0.443000														6			22		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620608	8620608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8620608G>A	uc002mkg.3	-	1	214	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	MYO1F_uc010xkf.2_Missense_Mutation_p.P26S	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	26	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGATCTGGGGAAGAAGCACC	0.642000														35			21		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281316	45281316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45281316C>T	uc002ozs.3	+	0	191	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CBLC_uc010ejt.3_Missense_Mutation_p.S43L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	43	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGTCCCCCTTCGCTGCGGGAC	0.741000			M		AML									39			21		0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84961718	84961718	+	Silent	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:84961718C>A	uc001djv.4	+	6	898	c.853C>A	c.(853-855)Cgg>Agg	p.R285R		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	285	Brix.				rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CCACAATCAACGGGATTACAT	0.363000														61			18		1.9806e-07	2.00361e-07	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596496	24596496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:24596496C>T	uc011djo.2	-	2	906	c.406G>A	c.(406-408)Gat>Aat	p.D136N	KIAA0319_uc011djp.2_Missense_Mutation_p.D91N|KIAA0319_uc003neh.1_Missense_Mutation_p.D136N|KIAA0319_uc011djq.1_Missense_Mutation_p.D127N|KIAA0319_uc011djr.1_Missense_Mutation_p.D136N	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	136					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						TTTCTGATATCCTCAGGTGAG	0.567000														58			29		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114778680	114778680	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:114778680G>A	uc001vui.3	-	14	1581	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	RASA3_uc010tkk.2_Silent_p.L452L|RASA3_uc001vuj.3_Silent_p.L101L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	484	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAGAACCTCAGGAAGATGAAG	0.617000														30			12		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516937	192516937	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:192516937C>T	uc011bsp.2	-	1	1035	c.714G>A	c.(712-714)gtG>gtA	p.V238V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	238										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGAAAGATACCACAGGGACAA	0.478000														27			15		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823368	209823369	+	Nonsense_Mutation	DNP	GG	AA	AA	rs121912481		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:209823368_209823369GG>AA	uc001hhg.3	-	1	513_514	c.123_124CC>TT	c.(121-126)ctccga>ctTTga	p.R42*	LAMB3_uc009xco.3_Nonsense_Mutation_p.R42*|LAMB3_uc001hhh.3_Nonsense_Mutation_p.R42*|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Nonsense_Mutation_p.R42*	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	42	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GATGAAGCTCGGAGAAACCGGG	0.614000														84			19		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58073817	58073817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58073817C>T	uc002ena.3	+	3	1452	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	160					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTACCACTCGATGGAGGCG	0.647000														41			76		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716816	153716816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:153716816G>A	uc022cig.1	-	0	464	c.464C>T	c.(463-465)gCc>gTc	p.A155V	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.A126V|SLC10A3_uc004flq.3_Missense_Mutation_p.A155V|SLC10A3_uc004flp.3_Missense_Mutation_p.A155V	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	155					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGGCGGGGCCTCATGGGC	0.647000														13			49		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831586	7831586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7831586G>A	uc010dvt.3	+	4	947	c.829G>A	c.(829-831)Gga>Aga	p.G277R	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.G254R|CLEC4M_uc010xjw.2_Missense_Mutation_p.G210R|CLEC4M_uc010dvs.3_Missense_Mutation_p.G253R|CLEC4M_uc010xjx.2_Missense_Mutation_p.G226R|CLEC4M_uc002mhz.3_Missense_Mutation_p.G185R|CLEC4M_uc002mic.3_Missense_Mutation_p.G249R|CLEC4M_uc002mia.3_Missense_Mutation_p.G141R	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	277	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ATTCTTCCAAGGAAACTGTTA	0.557000														59			30		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761880	92761880	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:92761880C>T	uc003umh.1	-	4	4621	c.3405G>A	c.(3403-3405)ttG>ttA	p.L1135L	SAMD9L_uc003umj.1_Silent_p.L1135L|SAMD9L_uc003umi.1_Silent_p.L1135L|SAMD9L_uc010lfb.1_Silent_p.L1135L|SAMD9L_uc003umk.1_Silent_p.L1135L|SAMD9L_uc010lfc.1_Silent_p.L1135L|SAMD9L_uc010lfd.1_Silent_p.L1135L|SAMD9L_uc022ahh.1_Silent_p.L1135L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1135										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)			TGTTCCCATCCAACCACCATT	0.418000														32			22		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497674	157497674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157497674G>A	uc009wsm.3	-	8	1851	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	FCRL5_uc001fqu.3_Missense_Mutation_p.R565C|FCRL5_uc010phv.1_Missense_Mutation_p.R565C|FCRL5_uc010phw.1_Missense_Mutation_p.R480C	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	565						integral to membrane|plasma membrane	receptor activity	p.R565H(2)|p.R565P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATGGGGCGAGACACTGGA	0.522000														69			21		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241929524	241929524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:241929524C>T	uc001hzg.2	+	14	2129	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	WDR64_uc021plh.1_Missense_Mutation_p.P435L|WDR64_uc021pli.1_Missense_Mutation_p.P361L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	641										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTCAGAATCCCACCATGGAT	0.363000														26			24		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112455697	112455697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:112455697C>T	uc003pvu.2	-	25	3838	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R	LAMA4_uc003pvv.2_Missense_Mutation_p.G1170R|LAMA4_uc003pvt.2_Missense_Mutation_p.G1170R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1177	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGAGGAGCTCCTCCAATGTAT	0.398000														6			9		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99849315	99849315	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:99849315A>G	uc004efy.4	+	3	605	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	TNMD_uc004efz.2_Missense_Mutation_p.K127E	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	127	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AACTCAGATTAAAGTGATTCC	0.353000														3			20		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:167240194C>T	uc003fev.1	-	11	1931	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_uc003feu.1_Missense_Mutation_p.E368K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000														20			11		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43098319	43098319	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:43098319C>T	uc011dve.1	+	4	798	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PTK7_uc003oub.1_Silent_p.F244F|PTK7_uc003ouc.1_Silent_p.F244F|PTK7_uc003oud.1_Silent_p.F244F|PTK7_uc003oue.1_Silent_p.F244F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Silent_p.F244F	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	244	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCCATGTTCCATTGCCAGT	0.592000														30			46		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248889	22248889	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:22248889C>T	uc001mqi.2	+	6	722	c.405C>T	c.(403-405)gcC>gcT	p.A135A	ANO5_uc001mqj.2_Silent_p.A134A	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	135						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGATCCATGCCCCTTGGGAGG	0.413000														17			14		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75048688	75048688	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:75048688C>T	uc003udk.4	-	13	3666	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1169	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCACTCCAGGCGCAGGGGTGT	0.637000														36			19		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135087705	135087705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:135087705C>T	uc021qbe.1	-	2	271	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ADAM8_uc009ybi.3_Missense_Mutation_p.G62E|ADAM8_uc010qva.2_Nonsense_Mutation_p.W27*|ADAM8_uc010qvb.1_Missense_Mutation_p.G37E|ADAM8_uc009ybj.2_Non-coding_Transcript	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	42					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCCTGTGGCCCCAAGGACGTA	0.687000														30			19		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259599	122259599	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:122259599G>A	uc010hri.3	-	7	1735	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	PARP9_uc003eff.4_Silent_p.A495A|PARP9_uc011bjs.2_Silent_p.A495A|PARP9_uc003efg.3_Silent_p.A75A|PARP9_uc003efi.3_Silent_p.A495A|PARP9_uc003efh.3_Silent_p.A530A|PARP9_uc003efj.2_Silent_p.A495A	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	530					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCCATGCGTGGGCCTCATACA	0.453000														115			77		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45389394	45389394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45389394C>T	uc002ozw.1	+	7	1655	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	422					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)		CTACAGCCCTCCCAGCTCTTC	0.662000														27			17		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81426721	81426721	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:81426721G>A	uc002bgb.3	+	0	78	c.51G>A	c.(49-51)gaG>gaA	p.E17E	C15orf26_uc010blp.1_Intron	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	17										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ACTGGAATGAGGATGTCTACC	0.602000														2			9		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974728	79974728	+	Silent	SNP	C	T	T	rs138723012		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79974728C>T	uc002kcy.3	+	14	1837	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	ASPSCR1_uc002kcx.3_Silent_p.A486A|ASPSCR1_uc021ufj.1_Silent_p.A409A|ASPSCR1_uc002kda.3_Silent_p.A434A	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	486							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)			CATCTGCGGCCGATGTGCTGG	0.657000			T	TFE3	alveolar soft part sarcoma									32			11		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808006	20808006	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:20808006T>C	uc002npb.1	-	3	827	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF626_uc002npc.1_Missense_Mutation_p.E150G	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTAGGGTTTCTCTCCAGTATG	0.393000														61			3		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263990	1263990	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1263990G>A	uc001lta.3	+	30	5939	c.5880G>A	c.(5878-5880)ggG>ggA	p.G1960G		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1960	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCAGGGACTGCAACCG	0.637000														86			105		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149779	167149779	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:167149779G>A	uc010fpl.3	-	8	1410	c.1069C>T	c.(1069-1071)Cta>Tta	p.L357L	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.L228L|SCN9A_uc002uds.1_Silent_p.L228L|SCN9A_uc002udt.1_Silent_p.L228L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	357						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)	TGGGTCATTAGCCTAAACAAG	0.433000														1			4		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754646	49754646	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:49754646G>A	uc003ozu.3	-	0	408	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L85I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAAGGATTTGAGCTCAACAG	0.512000														30			41		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595193	44595193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:44595193G>A	uc001clp.3	+	1	308	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	KLF17_uc009vxf.1_Missense_Mutation_p.E47K	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	84					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAATGTGAATGAAGGGGGGCC	0.557000														42			43		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641101	102641101	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:102641101G>A	uc002tbm.3	+	6	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_uc002tbn.3_Silent_p.P286P|IL1R2_uc002tbo.1_Silent_p.P286P	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	286	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572000														40			3		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098175	13098175	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:13098175C>T	uc002wod.1	+	7	1244	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	319					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CATCGTGCATCTGCCCCAGAT	0.502000														151			55		0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110259984	110259984	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110259984T>C	uc001dyn.3	+	7	664	c.593T>C	c.(592-594)aTg>aCg	p.M198T	GSTM5_uc010ovu.1_3'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	198	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCTGCCTACATGAAGTCCAGC	0.542000														168			5		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99956510	99956510	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:99956510G>A	uc004egd.4	-	4	626	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SYTL4_uc010nnc.3_Silent_p.D90D|SYTL4_uc004ege.4_Silent_p.D90D|SYTL4_uc004egf.4_Silent_p.D90D|SYTL4_uc004egg.4_Silent_p.D90D	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	90	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTATGCGGCAGTCCCGACACA	0.572000														76			16		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58617062	58617062	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58617062G>A	uc002env.3	-	8	1124	c.831C>T	c.(829-831)atC>atT	p.I277I	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.I277I|CNOT1_uc002enx.3_Silent_p.I277I|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	277					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAACTGCACGATTATATTGC	0.418000														61			12		0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485595	54485595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:54485595C>T	uc002qcs.2	+	3	877	c.770C>T	c.(769-771)cCc>cTc	p.P257L	CACNG8_uc021vbd.1_Non-coding_Transcript	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	257	Gly-rich.				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGGAGCGGCCCCTCGGCCATC	0.736000														1			3		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765888	153765888	+	Silent	SNP	C	A	A	rs146278879		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:153765888C>A	uc003lvh.3	+	6	1086	c.954C>A	c.(952-954)gcC>gcA	p.A318A	GALNT10_uc003lvg.1_Silent_p.A318A|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.A159A	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	318	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGTGATGGCCGGTGGACTGT	0.572000														19			164		2.6979e-105	2.78589e-105	1	1	0
ABCA1	19	broad.mit.edu	37	9	107568638	107568639	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:107568638_107568639GG>AA	uc004bcl.3	-	30	4751_4752	c.4347_4348CC>TT	c.(4345-4350)ttccag>ttTTag	p.Q1450*		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1450					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCCCATTCTGGAAGAGGTCCA	0.579000														19			10		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775285	1775286	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1775285_1775286GG>AA	uc001luc.2	-	6	1043_1044	c.910_911CC>TT	c.(910-912)ccg>TTg	p.P304L	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCATCCACCGGGCCCACCATG	0.713000														14			14		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117786037	117786037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:117786037G>A	uc004eqp.2	+	41	4755	c.4692G>A	c.(4690-4692)atG>atA	p.M1564I	DOCK11_uc004eqq.2_Missense_Mutation_p.M1343I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1564	DHR-2.				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						ACAGACCTATGAAGGTATGTT	0.343000														0			19		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572738	169572738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169572738C>T	uc003fgc.1	-	5	919	c.854G>A	c.(853-855)aGg>aAg	p.R285K	LRRC31_uc010hwp.1_Missense_Mutation_p.R229K	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	285										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)			ATCTAATTTCCTCAGCTCACC	0.458000														50			38		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547972	62547972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:62547972G>A	uc001xfu.1	+	3	1611	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Missense_Mutation_p.E30K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	472										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCTGGTTCTGGAGCCAAGAAG	0.473000														1			12		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48381965	48381965	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48381965C>T	uc001jez.3	-	3	3798	c.3684G>A	c.(3682-3684)gaG>gaA	p.E1228E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1228	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGGAGCATCTCCTTGGCCC	0.662000														11			12		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490190	37490190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37490190G>A	uc021ppc.1	+	30	2737	c.2638G>A	c.(2638-2640)Gat>Aat	p.D880N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D880N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	936						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCACAGAAGGATGTGTGTGT	0.299000														28			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412796	179412796	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179412796A>G	uc021vsy.1	-	287	86078	c.85853T>C	c.(85852-85854)gTg>gCg	p.V28618A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V22313A|TTN_uc021vta.1_Missense_Mutation_p.V22246A|TTN_uc021vtb.1_Missense_Mutation_p.V22121A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29545	Fibronectin type-III 108.						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)			CTTGGCCTTCACACGGAATTC	0.463000														40			6		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148792061	148792061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:148792061C>T	uc003ewq.1	-	3	688	c.470G>A	c.(469-471)aGa>aAa	p.R157K	HLTF_uc003ewr.1_Missense_Mutation_p.R157K|HLTF_uc003ews.1_Missense_Mutation_p.R157K|HLTF_uc010hve.1_Missense_Mutation_p.R157K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	157					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AACCGCTTTTCTATTTTCTTC	0.338000														23			21		0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59348961	59348961	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:59348961A>G	uc001noc.1	-	9	2225	c.1745T>C	c.(1744-1746)gTa>gCa	p.V582A	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	582					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGTTGTGTACAGTTGTGGT	0.393000														121			3		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64033988	64033988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:64033988C>T	uc001dbf.3	+	11	1799	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	502							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAGGCATGTCCATTTGTCATT	0.313000														9			5		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89789220G>A	uc002fos.4	+	1	584	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Missense_Mutation_p.G88S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_5'Flank|ZNF276_uc010cit.2_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000														47			53		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949601	91949601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:91949601C>T	uc004aqj.1	+	6	1125	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	SECISBP2_uc010mqn.1_Missense_Mutation_p.P310S|SECISBP2_uc004aqi.1_Missense_Mutation_p.P237S|SECISBP2_uc010mqo.1_Missense_Mutation_p.P54S|SECISBP2_uc004aqk.1_Missense_Mutation_p.P276S|SECISBP2_uc011ltk.1_Missense_Mutation_p.P348S|SECISBP2_uc011ltl.1_Missense_Mutation_p.P281S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	349					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCTTCGGATCCTTCCTACAA	0.388000														29			21		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550142	31550142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31550142G>A	uc003nuk.3	-	0	61	c.53C>T	c.(52-54)tCc>tTc	p.S18F	LTB_uc003nul.3_Missense_Mutation_p.S18F	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	18					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TAGCAGGAGGGAACCCCTCCC	0.637000														33			15		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119239661	119239661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:119239661G>A	uc003ica.2	-	4	1069	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	341	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAACATAACTGGGCCAGACCC	0.448000														34			17		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327884	327884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:327884G>A	uc002lok.1	-	3	358	c.349C>T	c.(349-351)Cca>Tca	p.P117S		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GTCATGTCTGGGAGGTTCGGG	0.617000														31			18		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917019	106917019	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106917019G>C	uc001kyi.1	+	9	1833	c.1606G>C	c.(1606-1608)Gga>Cga	p.G536R		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	536						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)		GGACCTGAGAGGAAGCCCAGT	0.567000														21			11		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875643	219875643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:219875643C>T	uc002vjl.1	-	24	4117	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1345						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATTTTTTTCCTGAACCTGT	0.507000														9			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556319	11556319	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:11556319G>A	uc002gne.3	+	14	2663	c.2595_splice	c.e14+1	p.Q865_splice	DNAH9_uc010coo.3_Splice_Site_p.Q159_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	865	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)		CCCTTGTTCAGGTAATAACCC	0.428000														2			55		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266154	3266155	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3266154_3266155CC>TT	uc010uwv.2	+	0	593_594	c.445_446CC>TT	c.(445-447)ccc>TTc	p.P149F						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		CGATGTGACTCCCCTCCTGAAA	0.535000														52			10		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450359	105450359	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:105450359A>C	uc022cca.1	+	0	934	c.934A>C	c.(934-936)Agt>Cgt	p.S312R	MUM1L1_uc004emg.2_Missense_Mutation_p.S312R|MUM1L1_uc004emf.2_Missense_Mutation_p.S312R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	312										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCCCTGGGAGTTGTTCAAG	0.458000														3			6		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146383	160146383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:160146383G>A	uc001fve.4	+	16	3060	c.2581G>A	c.(2581-2583)Gga>Aga	p.G861R	ATP1A4_uc001fvf.4_Intron|ATP1A4_uc001fvg.3_Missense_Mutation_p.G364R|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	861					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGCCTATGGACAGATTGG	0.542000														34			10		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:27999214C>T	uc004dbx.1	-	0	353	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	80	Glu-rich.							p.E80K(4)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000														8			67		0	0	1	0	0
NACC2	138151	broad.mit.edu	37	9	138908222	138908222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:138908222G>A	uc004cgv.4	-	2	1096	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	NACC2_uc010nbh.3_5'UTR	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	314					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						AGGTCGCGGCGGATGAGGACG	0.662000														61			52		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592981	31592981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31592981C>T	uc003nvb.4	+	5	746	c.497C>T	c.(496-498)tCt>tTt	p.S166F	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S166F|PRRC2A_uc003nve.3_Missense_Mutation_p.S29F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	166	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCACGATTCTCTCGAGAGGAA	0.552000														61			59		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227861	30227861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:30227861G>A	uc002wwj.1	+	2	283	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	70					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GAAGGAGAAGGGAAGCTGGAC	0.587000														32			10		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694261	106694261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:106694261G>A	uc010fjf.3	+	3	434	c.326G>A	c.(325-327)cGa>cAa	p.R109Q		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	109						extracellular region|transport vesicle		p.R109R(1)		lung(7)|urinary_tract(1)	8						AACAGAGATCGAAATGGACAT	0.453000														93			10		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19184164	19184164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:19184164G>A	uc021wle.1	-	24	3952	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.R1293C|CLTCL1_uc011agw.1_Missense_Mutation_p.R1272C|CLTCL1_uc011agt.2_Missense_Mutation_p.R84C|CLTCL1_uc011agu.2_Missense_Mutation_p.R84C|CLTCL1_uc010grm.1_Missense_Mutation_p.R53C|CLTCL1_uc002zpd.1_Missense_Mutation_p.R200C|CLTCL1_uc002zpe.2_3'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1293	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGTAGCCACGATCCTAGCAG	0.622000			T	?	ALCL									21			17		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124341761	124341761	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124341761G>A	uc001uft.4	+	35	6268	c.6243G>A	c.(6241-6243)ctG>ctA	p.L2081L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2081	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCAGGTCCTGGAGGAGAACG	0.527000														39			23		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460542	110460542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:110460542C>T	uc003yne.3	+	38	6051	c.5947C>T	c.(5947-5949)Cat>Tat	p.H1983Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1983	IPT/TIG 12.				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)			TATGATGCATCATAAGACAAA	0.408000										HNSCC(38;0.096)				22			16		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76885817	76885817	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:76885817C>T	uc003uga.3	+	5	802	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	225										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GACATCAGGTCGTCCTAAAGG	0.353000														46			28		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752276	2752276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:2752276G>A	uc003smr.1	+	6	1622	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Missense_Mutation_p.E170K	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	421							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTGCAGCGGGAAGTGGCAGA	0.697000														33			14		0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137715022	137715022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:137715022C>T	uc004fam.3	-	4	1389	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FGF13_uc004fan.3_Missense_Mutation_p.E190K|FGF13_uc011mwi.2_Missense_Mutation_p.E224K|FGF13_uc004faq.3_Missense_Mutation_p.E253K|FGF13_uc004far.3_Missense_Mutation_p.E224K|FGF13_uc011mwj.2_Missense_Mutation_p.E253K|FGF13_uc011mwk.2_Missense_Mutation_p.E197K	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	243					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TACGTTGATTCATTGTGGCTC	0.517000														9			75		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992034	85992034	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:85992034C>G	uc001kcz.1	-	3	1543	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	507	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACACTGCTCCTTCCGGGGCA	0.542000														17			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410454	152410454	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:152410454G>T	uc021vrb.1	-	96	14440	c.14411C>A	c.(14410-14412)tCc>tAc	p.S4804Y	NEB_uc002txr.3_Missense_Mutation_p.S1270Y|NEB_uc002txu.3_Missense_Mutation_p.S6505Y|NEB_uc021vrc.1_Missense_Mutation_p.S6505Y|NEB_uc010fnx.3_Missense_Mutation_p.S4792Y|NEB_uc021vrd.1_Missense_Mutation_p.S4804Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4804					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTTCTGGGAATCCTTGGC	0.453000														22			81		1.92787e-56	1.98633e-56	1	1	0
TMEM41A	90407	broad.mit.edu	37	3	185213024	185213024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185213024C>T	uc003fpj.2	-	2	449	c.353G>A	c.(352-354)tGc>tAc	p.C118Y	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	118						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGGTAGCAGCATGTGGCACC	0.517000														107			21		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952529	119952529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:119952529G>A	uc010inb.3	+	3	2795	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SYNPO2_uc010ina.3_Missense_Mutation_p.G867R|SYNPO2_uc003icm.4_Missense_Mutation_p.G867R|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G795R|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	867						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P866Q(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGCTTCCAGGAATGAGTGG	0.527000														123			47		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:16838749G>A	uc010rcu.1	-	10	1479	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_uc001mmo.3_Silent_p.P488P|PLEKHA7_uc010rcv.2_Silent_p.P62P|PLEKHA7_uc001mmn.3_Silent_p.P196P	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	488					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637000														50			64		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:230231825C>T	uc002vpv.3	-	11	2013	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	622					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCGGACTTCCATTGGAGGT	0.483000														10			30		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597726	2597726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:2597726C>T	uc002wgf.1	+	15	1964	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	TMC2_uc002wgg.1_Missense_Mutation_p.S634F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	650						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGATGGGCTCCTTCTATGCT	0.572000														51			32		0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	C	C	rs138265355	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:197348646T>C	uc011bug.2	-	3		c.445A>G			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TGGGCCTGCCTGCCCTTTCCA	0.532000														180			6		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122614161	122614161	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:122614161C>T	uc001ubq.3	+	4	831	c.723C>T	c.(721-723)ctC>ctT	p.L241L	MLXIP_uc001ubr.3_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	241	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATGAGGACCTCTCCAGCCTGG	0.602000														15			4		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77623762	77623762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:77623762G>A	uc011bgk.2	+	14	2739	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	ROBO2_uc021xat.1_Missense_Mutation_p.R711Q|ROBO2_uc003dpy.4_Missense_Mutation_p.R695Q|ROBO2_uc003dpz.3_Missense_Mutation_p.R699Q|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.	695	Fibronectin type-III 2.				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	p.R695Q(1)		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)		CCGACTGAACGAAGTGCTGTC	0.443000														4			20		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73168133	73168133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:73168133G>A	uc004aid.3	-	21	3525	c.3281C>T	c.(3280-3282)gCc>gTc	p.A1094V	TRPM3_uc004ahu.3_Missense_Mutation_p.A936V|TRPM3_uc004ahv.3_Missense_Mutation_p.A896V|TRPM3_uc004ahw.3_Missense_Mutation_p.A966V|TRPM3_uc004ahx.3_Missense_Mutation_p.A953V|TRPM3_uc004ahy.3_Missense_Mutation_p.A956V|TRPM3_uc004ahz.3_Missense_Mutation_p.A943V|TRPM3_uc004aia.3_Missense_Mutation_p.A941V|TRPM3_uc004aib.3_Missense_Mutation_p.A931V|TRPM3_uc004aic.3_Missense_Mutation_p.A1094V	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1119						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGGTAGCAGGCCATGATGGC	0.537000														17			12		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922019	190922019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:190922019G>A	uc002urp.3	-	2	1226	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	365					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P365S(2)		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)			ACCATCGCTGGAATTTTCCCA	0.403000														3			18		0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675774	116675774	+	Missense_Mutation	SNP	G	A	A	rs150571972		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:116675774G>A	uc001egc.1	+	6	1142	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	293										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TTGGACCTGCGAGAAATATCC	0.478000														25			11		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887683	25887683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:25887683C>T	uc001isj.3	+	10	3188	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	GPR158_uc001isk.3_Missense_Mutation_p.S418F	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1043						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCACTTTTTCCTTAAAGGAG	0.453000														9			16		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66021535	66021535	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:66021535C>T	uc002api.3	-	10	1747	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	DENND4A_uc002aph.3_Silent_p.L454L|DENND4A_uc002apj.3_Silent_p.L454L|DENND4A_uc010ujj.1_Silent_p.L454L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	454	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGCTAAAGCCAGTGGGCAGA	0.423000														1			7		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788589	62788589	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:62788589G>A	uc002jew.4	-	7	2051	c.1140C>T	c.(1138-1140)aaC>aaT	p.N380N	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		ACAGAGACGCGTTCACCATCT	0.627000														102			36		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472843	66472843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:66472843G>A	uc001ojd.3	-	13	1976	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	635					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A635S(1)		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						CTCCAGCCGGGCCCGCCGCGC	0.672000														40			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090133	9090133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9090133G>A	uc002mkp.3	-	0	1886	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	561	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						TGAGGGAACAGAAGTGGTGAT	0.522000														28			19		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638907	55638908	+	Missense_Mutation	DNP	TT	GA	GA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:55638907_55638908TT>GA	uc003pcq.3	-	3	1678_1679	c.966_967AA>TC	c.(964-969)aaaaat>aaTCat	p.322_323KN>NH	BMP5_uc011dxf.2_Missense_Mutation_p.322_323KN>NH	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	322					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321*(1)|p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGTTTTGATTTTTTCGTTTGT	0.470000														36			19		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110913	55110913	+	Silent	SNP	G	A	A	rs142044895		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:55110913G>A	uc010rie.2	+	0	237	c.237G>A	c.(235-237)ttG>ttA	p.L79L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACCCAAATTGATGATAGACT	0.448000														28			25		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	658005	658005	+	Silent	SNP	C	T	T	rs144847778		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:658005C>T	uc003gap.3	+	16	2177	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	PDE6B_uc003gao.4_Silent_p.I708I|PDE6B_uc011buy.2_Silent_p.I429I|PDE6B_uc011buz.2_Silent_p.I140I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	708					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						GGAAGGAGATCGTCATGTGAG	0.622000														56			27		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552955	156552955	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156552955G>A	uc021pbf.1	+	3	1068	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	344							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCTGCCCGGGACTCTGGTA	0.647000														46			55		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000832	17000832	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:17000832C>T	uc002nfa.3	+	1	733	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGGCCCGCGCCCTGCGTGGCC	0.711000														6			10		0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88718536	88718536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:88718536G>A	uc001keb.2	+	0	249	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	MMRN2_uc001kea.3_5'Flank|MMRN2_uc010qmn.2_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	Homo sapiens synuclein, gamma (breast cancer-specific protein 1) (SNCG), mRNA.	28	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						GGGGGTGACGGAAGCAGCTGA	0.592000														34			35		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152529135	152529135	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:152529135G>A	uc021vrb.1	-	34	4076	c.4047C>T	c.(4045-4047)ctC>ctT	p.L1349L	NEB_uc002txu.3_Silent_p.L1349L|NEB_uc021vrc.1_Silent_p.L1349L|NEB_uc010fnx.3_Silent_p.L1349L|NEB_uc021vrd.1_Silent_p.L1349L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1349					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATCATCCTGGAGGCTTCTGA	0.438000														12			71		0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218407	43218408	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:43218407_43218408GG>AA	uc003bdd.2	-	8	900_901	c.680_681CC>TT	c.(679-681)gcc>gTT	p.A227V	ARFGAP3_uc010gzf.2_Missense_Mutation_p.A183V|ARFGAP3_uc011apu.1_Missense_Mutation_p.A155V	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	227					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTCCTTTTTTGGCCCCAAGCTA	0.426000														68			59		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028237	21028237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:21028237G>A	uc010sil.2	+	6	861	c.796G>A	c.(796-798)Gga>Aga	p.G266R	SLCO1B3_uc001rek.3_Missense_Mutation_p.G266R|SLCO1B3_uc001rel.3_Missense_Mutation_p.G266R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	266					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCTTGTGTCTGGACTATTTTC	0.373000														44			28		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508048	14508048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:14508048C>T	uc010heg.3	+	6	1056	c.757C>T	c.(757-759)Cca>Tca	p.P253S	SLC6A6_uc003byq.3_Missense_Mutation_p.P253S|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	253					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AGCCACTTTTCCATTCGCCAT	0.592000														20			96		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73215456	73215456	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:73215456G>A	uc002siq.3	-	9	687	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Nonsense_Mutation_p.Q78*|SFXN5_uc010yrc.2_Silent_p.F42F|SFXN5_uc010fet.3_Nonsense_Mutation_p.Q186*|SFXN5_uc010fes.3_5'UTR	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	186					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						TTGGCTTTCTGAACCAGGACA	0.498000														4			19		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878460	150878460	+	Silent	SNP	G	T	T	rs138770241		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150878460G>T	uc003wjm.1	-	2	931	c.670C>A	c.(670-672)Cgg>Agg	p.R224R	ASB10_uc003wjl.1_Silent_p.R224R|ASB10_uc003wjn.1_Silent_p.R209R	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	224					intracellular signal transduction			p.R224R(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCAAGCCGGGCGGCCACA	0.627000														39			19		8.34094e-07	8.42562e-07	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762535	53762535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53762535C>T	uc002qbi.2	+	0	991	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	303					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TAGGAACAATCTCTACCCCAA	0.493000														77			57		0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23953394	23953394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:23953394C>T	uc004daz.1	+	6	981	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	CXorf58_uc011mju.1_Missense_Mutation_p.P213S	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	213										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGAAAATATTCCCAGGACAAT	0.398000														7			37		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25913647	25913647	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:25913647G>A	uc011dkb.2	-	10	1418	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	SLC17A2_uc011dkc.2_3'UTR|SLC17A2_uc003nfl.3_Missense_Mutation_p.S396F			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCAGACAGGAAAAAGACAT	0.453000														17			26		0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145522864	145522864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:145522864C>T	uc001eny.2	+	3	961	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PEX11B_uc010oyu.2_Missense_Mutation_p.S228F|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.3_5'Flank|ITGA10_uc010oyv.2_5'Flank|ITGA10_uc009wiw.3_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	242	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	p.S242P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCCTCGTGTCCTCCATCCTG	0.542000														52			62		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201901	132201901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:132201901C>T	uc002tst.2	-	0	567	c.101G>A	c.(100-102)gGg>gAg	p.G34E						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TTCCTGGTCCCCTTGGGTGGT	0.532000														11			26		0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869429	103869429	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:103869429G>A	uc009xwz.3	-	7	1003	c.660C>T	c.(658-660)ccC>ccT	p.P220P	LDB1_uc001kuk.4_Silent_p.P184P|LDB1_uc001kul.3_Silent_p.P184P	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	220					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCAACATCTGGGGGTCTTGGG	0.532000														52			35		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111530276	111530276	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:111530276T>C	uc003kpv.1	-	16	1765	c.1491A>G	c.(1489-1491)aaA>aaG	p.K497K	EPB41L4A_uc003kpp.1_Silent_p.K124K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	497						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGTTTCTCTTTTTCCGGTATT	0.378000														14			14		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547322	28547322	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:28547322C>T	uc003szq.3	+	3	648	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CREB5_uc003szo.3_Silent_p.F53F|CREB5_uc003szr.3_Silent_p.F79F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	86					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGCACGAGTTCAGGAAGGCTC	0.562000														68			79		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342965	42342965	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42342965G>A	uc002orp.1	-	2	1185	c.201C>T	c.(199-201)ttC>ttT	p.F67F	LYPD4_uc002orq.1_Intron	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	67						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CTGTCTCAATGAACACTAGCG	0.488000														79			76		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299398	72299398	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:72299398G>A	uc001jrd.4	+	14	2069	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	596										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGGGCCCCCTGACCTACAGGT	0.667000														32			24		0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394431	118394431	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:118394431C>T	uc001lcq.3	+	9	920	c.897C>T	c.(895-897)ttC>ttT	p.F299F	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	299					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTGATGGCTTCCTGGGCTATC	0.502000														21			12		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710262	183710262	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:183710262T>A	uc003ivd.1	+	23	5396	c.5321T>A	c.(5320-5322)cTc>cAc	p.L1774H		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1774					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCAGAAACCTCCTTTCAGTT	0.418000														5			11		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138384011	138384011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:138384011G>A	uc011bmq.2	-	17	2539	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	PIK3CB_uc011bmn.2_Missense_Mutation_p.R359C|PIK3CB_uc011bmo.2_Missense_Mutation_p.R298C|PIK3CB_uc011bmp.2_Missense_Mutation_p.R434C	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	847	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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	p.R847G(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCCAGAGCGATCTCCTGTT	0.418000														29			45		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70267599	70267599	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:70267599A>G	uc001opv.4	+	10	1020	c.814A>G	c.(814-816)Aaa>Gaa	p.K272E	CTTN_uc001opu.3_Intron|CTTN_uc001opw.4_Intron|CTTN_uc010rqm.2_Intron|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	272						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTTTGGAGGCAAATTCGGTGT	0.502000														282			129		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260813	32260813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32260813G>A	uc021yvt.1	-	22	1810	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.S463L|C6orf10_uc011dpz.2_Missense_Mutation_p.S544L|C6orf10_uc021yvu.1_Missense_Mutation_p.S544L|C6orf10_uc021yvv.1_Missense_Mutation_p.S530L	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	546	Lys-rich.					integral to membrane		p.S546L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CGCCCTTTTCGAGCCTTTTGA	0.333000														32			18		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309789	24309789	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24309789A>G	uc002nru.3	+	3	1121	c.987A>G	c.(985-987)aaA>aaG	p.K329K	ZNF254_uc010xrk.2_Silent_p.K244K	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	329					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATGTGGCAAAGCATTTATAT	0.403000														31			4		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478657	102478657	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:102478657C>T	uc001yks.2	+	33	7028	c.6864C>T	c.(6862-6864)atC>atT	p.I2288I	DYNC1H1_uc001ykt.1_5'Flank	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2288	AAA 2 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGGATCATCGACAGCGTGA	0.448000														7			49		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071188	2071188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:2071188G>A	uc003wpx.4	+	28	3655	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	MYOM2_uc011kwi.2_Missense_Mutation_p.E598K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1173	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTATGAAACGGAGACACTGCC	0.423000														65			49		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24892968	24892968	+	Missense_Mutation	SNP	G	A	A	rs149288885	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:24892968G>A	uc001upj.3	+	2	240	c.179G>A	c.(178-180)cGt>cAt	p.R60H	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.	60	Collagen-like 1.					collagen	hormone activity	p.R60C(1)		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)		GAACCAGGACGTCCTGGCAGC	0.478000														230			6		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38411978	38411978	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:38411978C>A	uc001ccg.1	-	1	97	c.3G>T	c.(1-3)atG>atT	p.M1I	INPP5B_uc009vvk.1_5'Flank|INPP5B_uc001cch.3_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	1					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGACTGGTCCATGCTGGCCC	0.617000														23			11		4.93089e-13	5.03573e-13	1	1	0
LOC100507433	100507433	broad.mit.edu	37	19	38103100	38103100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:38103100G>A	uc002ogq.3	+	4	1286	c.919G>A	c.(919-921)Gtt>Att	p.V307I	LOC100507433_uc002ogu.3_Missense_Mutation_p.V307I|LOC100507433_uc010efq.3_Missense_Mutation_p.V275I	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		ATGTGGAAAAGTTTTTCAACT	0.303000														17			8		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033937	52033937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52033937G>A	uc002pwy.3	-	2	912	c.704C>T	c.(703-705)tCc>tTc	p.S235F	SIGLEC6_uc002pwz.3_Missense_Mutation_p.S235F|SIGLEC6_uc010ydb.2_Missense_Mutation_p.S199F|SIGLEC6_uc010ydc.2_Missense_Mutation_p.S235F|SIGLEC6_uc002pxa.3_Missense_Mutation_p.S235F|SIGLEC6_uc010eoz.2_Missense_Mutation_p.S224F|SIGLEC6_uc010epa.2_Missense_Mutation_p.S224F|SIGLEC6_uc010epb.2_Missense_Mutation_p.S188F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	235					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCACTCACAGGAGACATTGAG	0.632000														79			51		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787875	24787875	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24787875G>A	uc001wow.3	-	23	3485	c.3066C>T	c.(3064-3066)gtC>gtT	p.V1022V	ADCY4_uc010toh.2_Silent_p.V708V|ADCY4_uc001wox.3_Silent_p.V1022V|ADCY4_uc001woy.3_Silent_p.V1022V	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1022					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	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TTTTGCCAAGGACTCCTGTAC	0.552000														8			64		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798152	148798152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:148798152G>A	uc004fdq.3	+	4	1161	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	MAGEA11_uc004fdr.3_Missense_Mutation_p.E307K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	336	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGTTATGTGGGAAGTCCTGAG	0.512000														90			26		0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976084	14976084	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14976084C>G	uc001rcj.4	+	1	419	c.215C>G	c.(214-216)tCt>tGt	p.S72C	C12orf60_uc021qvq.1_Missense_Mutation_p.S72C	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	72										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GAGATGCAATCTGTAGTGGAT	0.368000														88			3		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652710	24652710	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24652710G>A	uc001wmv.1	-	20	3094	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	IPO4_uc001wmt.1_Silent_p.F169F|IPO4_uc001wmu.2_Silent_p.F353F|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.F555F|IPO4_uc001wmy.1_Silent_p.F555F|IPO4_uc001wmz.2_Silent_p.F691F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	691					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGTATGGAAGGAAGGCCACAC	0.587000														19			7		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698465	150698465	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150698465C>T	uc003wif.3	+	10	1676	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	NOS3_uc011kuy.2_Silent_p.F254F|NOS3_uc011kva.2_Silent_p.F460F|NOS3_uc011kuz.2_Silent_p.F460F|NOS3_uc011kvb.2_Silent_p.F460F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	460	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTCCTGTTTTCCATCAGGAGA	0.607000														51			57		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5756944	5756944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:5756944C>T	uc001qnm.2	-	15	1641	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	528						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						AACGATCCTTCCAGGTCAGTT	0.428000														6			4		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691786	18691786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:18691786G>A	uc001bau.2	+	5	993	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	IGSF21_uc001bav.2_Missense_Mutation_p.G25S	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	204						extracellular region				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)		TGCGAGCTCCGGCCCCCTACA	0.582000														59			32		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667733	154667733	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:154667733C>T	uc003wlk.3	+	19	2130	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	DPP6_uc003wli.3_Silent_p.F603F|DPP6_uc003wlm.3_Silent_p.F605F|DPP6_uc011kvq.2_Silent_p.F560F	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	667					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCGGCTTCCAAGGGACCA	0.657000														7			12		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:123512533G>A	uc003ego.3	-	3	438	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_uc011bjw.2_Silent_p.F52F|MYLK_uc003egp.3_Silent_p.F52F|MYLK_uc003egq.3_Silent_p.F52F|MYLK_uc003egr.3_Silent_p.F52F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F52F|MYLK_uc003egu.1_Silent_p.F62F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000														32			24		0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571209	86571209	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:86571209G>A	uc004anb.3	-	0	455	c.207C>T	c.(205-207)ttC>ttT	p.F69F	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	69										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTCTGTCACGAACACCCAGT	0.617000														31			39		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13736177	13736178	+	Missense_Mutation	DNP	CC	TT	TT	rs146816221	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:13736177_13736178CC>TT	uc001mld.3	+	8	1232_1233	c.1077_1078CC>TT	c.(1075-1080)gcccca>gcTTca	p.P360S		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	360					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GCCATAAGGCCCCAGCATTCCT	0.446000														14			12		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328876	57328876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57328876C>T	uc002qnu.2	-	6	1285	c.934G>A	c.(934-936)Gga>Aga	p.G312R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G283R|PEG3_uc002qnv.2_Missense_Mutation_p.G312R|PEG3_uc002qnw.2_Missense_Mutation_p.G188R|PEG3_uc002qnx.2_Missense_Mutation_p.G186R|PEG3_uc010etr.2_Missense_Mutation_p.G312R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	312					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H311N(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)		ATTATCACTCCGTGGGAAGAT	0.463000														74			6		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122301782	122301782	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:122301782G>A	uc010inj.1	-	0	400	c.21C>T	c.(19-21)acC>acT	p.T7T	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Silent_p.T7T|QRFPR_uc010inl.1_Silent_p.T7T	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	7						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGCTCCGGGGTAATGTTAA	0.682000														14			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90008006	90008006	+	RNA	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:90008006C>T	uc010yts.2	+	13		c.2294C>T								Parts of antibodies, mostly variable regions.																		TTCCTAAGCTCCTGATCTATG	0.522000														13			58		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888421	23888421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:23888421C>T	uc001wjx.3	-	28	4043	c.3937G>A	c.(3937-3939)Gag>Aag	p.E1313K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1313				E -> G (in Ref. 14; CAA27381).	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)		TTGAGGTCCTCCAGCTGCTGG	0.597000														7			42		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487552	56487552	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56487552T>G	uc002qmh.3	+	7	2830	c.2759T>G	c.(2758-2760)cTc>cGc	p.L920R	NLRP8_uc010etg.3_Missense_Mutation_p.L901R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	920						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)		ATCTCTGCGCTCTGTAAAAAT	0.413000														33			29		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313599	44313599	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:44313599C>T	uc002xpc.3	-	3	168	c.140_splice	c.e3-1	p.G47_splice	WFDC10B_uc002xpb.3_Splice_Site_p.R31_splice	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GACCTTGATTCCTGAAATGAT	0.478000														29			24		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993876	140993876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140993876C>T	uc004fbt.3	+	3	1010	c.686C>T	c.(685-687)gCc>gTc	p.A229V	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	229							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGTTTTGCCCAGTCTCCT	0.488000										HNSCC(15;0.026)				9			62		0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66426264	66426264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:66426264C>T	uc010dey.3	-	8	929	c.838G>A	c.(838-840)Gga>Aga	p.G280R	WIPI1_uc010wqo.2_Missense_Mutation_p.G198R	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	280					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AACATCTTTCCCATGTAGCCA	0.562000														38			17		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414000	48414001	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48414000_48414001CC>GT	uc001jfa.1	-	1	1027_1028	c.867_868GG>AC	c.(865-870)aaggac>aaACac	p.D290H		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	290					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGGAGCCGTCCTTGGACAGCT	0.609000														26			13		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651689	7651689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7651689C>T	uc001qsz.3	-	3	681	c.553G>A	c.(553-555)Gat>Aat	p.D185N	CD163_uc001qta.3_Missense_Mutation_p.D185N|CD163_uc009zfw.2_Missense_Mutation_p.D185N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	185	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAGTTATCATCACACACTGTT	0.428000														130			55		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90697867	90697867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:90697867C>T	uc001kfp.3	-	7	1057	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.R269Q|ACTA2_uc001kfq.3_Missense_Mutation_p.R314Q|AX748062_uc001kfo.1_Intron	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	314					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTTCTGCATTCGGTCGGCAAT	0.522000														52			32		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506150	27506150	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:27506150G>A	uc002dov.2	-	15	2752	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	GTF3C1_uc002dou.3_Silent_p.L904L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	904						transcription factor TFIIIC complex	DNA binding|protein binding	p.L904F(1)		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						TGTCGCTGACGAGAGCCCAGC	0.532000														31			43		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71825755	71825755	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:71825755C>T	uc010fen.3	+	32	3777	c.3636C>T	c.(3634-3636)acC>acT	p.T1212T	DYSF_uc010fei.3_Silent_p.T1211T|DYSF_uc010feh.3_Silent_p.T1180T|DYSF_uc002sig.4_Silent_p.T1180T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T1225T|DYSF_uc010fee.3_Silent_p.T1194T|DYSF_uc010fef.3_Silent_p.T1211T|DYSF_uc002sie.3_Silent_p.T1194T|DYSF_uc010feo.3_Silent_p.T1226T|DYSF_uc010fej.3_Silent_p.T1181T|DYSF_uc010fel.3_Silent_p.T1181T|DYSF_uc010fem.3_Silent_p.T1195T|DYSF_uc002sif.3_Silent_p.T1195T|DYSF_uc010fek.3_Silent_p.T1212T|DYSF_uc010yqy.2_Silent_p.T75T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1194	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGAACACCCTTAACCCCA	0.602000														16			48		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1462005	1462005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1462005C>T	uc002lsr.1	+	13	1890	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	APC2_uc002lss.1_Missense_Mutation_p.S143F|APC2_uc002lst.1_Missense_Mutation_p.S561F|APC2_uc002lsu.1_Missense_Mutation_p.S560F|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	561					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TGGAATCTGTCTGCACACAGC	0.647000														39			26		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38024238	38024238	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:38024238C>T	uc010efm.3	+	6	613	c.171C>T	c.(169-171)atC>atT	p.I57I	ZNF793_uc010xts.2_Silent_p.I57I	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGATGTGATCCTCAGACTGG	0.527000														54			54		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115266543	115266543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115266543G>A	uc001efi.3	-	16	2494	c.1972C>T	c.(1972-1974)Cag>Tag	p.Q658*	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Nonsense_Mutation_p.Q612*|CSDE1_uc001efm.3_Nonsense_Mutation_p.Q627*|CSDE1_uc009wgv.3_Nonsense_Mutation_p.Q612*|CSDE1_uc001efl.3_Nonsense_Mutation_p.Q581*|CSDE1_uc001efn.3_Nonsense_Mutation_p.Q581*	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	612	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		TACTCAGTCTGTGTTGGATCA	0.438000														163			175		0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320594	320594	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:320594C>T	uc002cgj.1	-	14	1137	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.L357L|RGS11_uc010bqs.1_Silent_p.L367L|RGS11_uc002cgk.1_Silent_p.L194L	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	378	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCAGCCCCTCCAGGGTCTGCT	0.652000														9			23		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507613	155507613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:155507613G>A	uc003iod.1	-	4	1026	c.968C>T	c.(967-969)cCt>cTt	p.P323L	FGA_uc003ioe.1_Missense_Mutation_p.P323L|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	323					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAGCTCCCAGGTTTCCAGGT	0.567000														41			19		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256408	24256408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24256408C>T	uc003xdz.2	+	8	1004	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.Q183*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.Q183*	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	262	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATAGATGTTCAAGTGGCCTT	0.428000														50			33		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097627	11097628	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11097627_11097628CC>TT	uc010dxp.3	+	5	1167_1168	c.807_808CC>TT	c.(805-810)cccccc>ccTTcc	p.P270S	SMARCA4_uc010dxo.3_Missense_Mutation_p.P270S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P270S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P270S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P270S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P270S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P270S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P270S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P270S	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.	270	Necessary for interaction with SS18L1/CREST (By similarity).				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.P270fs*16(1)|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)				CGGGCGTGCCCCCCGGGATGCC	0.624000			"""F, N, Mis"""		NSCLC									38			35		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8186265	8186265	+	Missense_Mutation	SNP	C	T	T	rs142237067	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8186265C>T	uc002mjf.3	-	23	3105	c.3088G>A	c.(3088-3090)Gac>Aac	p.D1030N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1030	EGF-like 13; 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						CGACACTCGTCGATATCTGTG	0.647000														9			7		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258636	51258636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:51258636C>T	uc003tps.3	-	3	781	c.596G>A	c.(595-597)aGg>aAg	p.R199K	COBL_uc003tpr.4_Missense_Mutation_p.R199K|COBL_uc011kcl.2_Missense_Mutation_p.R199K|COBL_uc010kzc.3_Missense_Mutation_p.R199K|COBL_uc003tpt.3_Missense_Mutation_p.R199K|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.R115K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	199								p.L198L(1)		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)					AATGTTGTCCCTGAGGAGAAC	0.562000														25			30		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648247	57648248	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57648247_57648248GG>AA	uc002qnz.1	-	3	620_621	c.234_235CC>TT	c.(232-237)ggccgt>ggTTgt	p.R79C		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	79	KRAB.				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)		CTACCTGCACGGCCACTTCCCA	0.525000														47			15		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673068	74673068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:74673068C>T	uc001jte.1	+	5	1011	c.793C>T	c.(793-795)Cct>Tct	p.P265S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	265	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTCTGCAGTCCCTGTGTTGTG	0.507000														69			65		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649305	47649305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:47649305C>T	uc010jzj.1	+	5	1011	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	GPR111_uc003oyy.3_Missense_Mutation_p.S269F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	337					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTTCCCCTTCTCAGGTCATC	0.413000														153			5		0	0	1	0	0
IGFL2	147920	broad.mit.edu	37	19	46664137	46664137	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:46664137A>G	uc002peb.3	+	4	665	c.374_splice	c.e4+1	p.S125_splice	IGFL2_uc010xxv.2_Splice_Site_p.S114_splice	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	114						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TAAATGTGAAAGGTAGGGACC	0.532000														24			14		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645431	94645431	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:94645431T>C	uc001dqj.4	-	19	2699	c.2330A>G	c.(2329-2331)cAa>cGa	p.Q777R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.Q343R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	777	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.E776Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGTCTCTTGTTCTTCATT	0.299000														54			20		0	0	1	0	0
RSL24D1	51187	broad.mit.edu	37	15	55475591	55475591	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:55475591T>C	uc002acn.3	-	4	483	c.340A>G	c.(340-342)Aaa>Gaa	p.K114E		NM_016304	NP_057388	Q9UHA3	RLP24_HUMAN	Homo sapiens ribosomal L24 domain containing 1 (RSL24D1), mRNA.	114					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TCTTTATTTTTCTTCAATCTA	0.343000														3			8		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126155217	126155217	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:126155217G>A	uc010hsg.1	+	15	1868	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	CCDC37_uc003eiu.1_Silent_p.E602E	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	602	Poly-Glu.									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)		TGGACAAGGAGGAGGAGGAGC	0.527000														58			37		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747048	10747048	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10747048A>T	uc002mpf.3	+	14	1422	c.1283A>T	c.(1282-1284)cAg>cTg	p.Q428L	SLC44A2_uc002mpe.4_Missense_Mutation_p.Q426L|SLC44A2_uc002mpg.1_Missense_Mutation_p.Q148L|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	428					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCCGTTGCCAGTTCGCCTTC	0.592000														53			42		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524474	52524474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:52524474C>T	uc001vfw.2	-	9	2666	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	ATP7B_uc001vfy.2_Missense_Mutation_p.G726R|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.G675R|ATP7B_uc010tgt.1_Missense_Mutation_p.G837R|ATP7B_uc010tgu.1_Missense_Mutation_p.G789R|ATP7B_uc010tgv.1_Missense_Mutation_p.G759R|ATP7B_uc001vfv.2_Missense_Mutation_p.G109R|ATP7B_uc010tgs.1_Missense_Mutation_p.G109R	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	837				G -> A (in Ref. 8; AAA16173).	ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGAAACTTTCCCCCAGGGACC	0.547000									Wilson disease					60			13		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19554303	19554303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:19554303G>A	uc002dgl.4	+	7	2718	c.2471G>A	c.(2470-2472)cGa>cAa	p.R824Q	CCP110_uc002dgk.4_Missense_Mutation_p.R824Q	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	824					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAGCAACTTCGACAAACTGTA	0.348000														24			16		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469316	10469316	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:10469316C>T	uc003wtc.3	-	3	2521	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	764					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)		ACCCCGCGTCCCCTGCCCACC	0.652000														66			64		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945015	4945015	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4945015C>G	uc010qyr.2	-	0	555	c.555G>C	c.(553-555)gaG>gaC	p.E185D		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTCATGATCTCCAGGTGAA	0.517000														14			6		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109313543	109313543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109313543C>T	uc010sxh.1	-	12	1186	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	392						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						GGTCAATAATCCACAGAGTCA	0.537000														9			3		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681256	203681256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:203681256G>A	uc001gzw.3	+	12	3097	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	ATP2B4_uc001gzv.3_Missense_Mutation_p.E734K|ATP2B4_uc009xaq.3_Missense_Mutation_p.E734K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	734					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCGCAACGAGAAAGGCGA	0.562000														4			66		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278401	21278401	+	RNA	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:21278401T>G	uc003zou.1	-	0		c.162A>C								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		AGCTTGAACCTTCTGGAAGTG	0.433000														1			6		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535154	16535154	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:16535154C>T	uc001ayc.1	-	1	533	c.396G>A	c.(394-396)tcG>tcA	p.S132S	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	132					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCTTCTCCGAGCCGTGGC	0.672000														24			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106927072	106927072	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106927072C>T	uc001kyi.1	+	12	2093	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	622						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)		CCCTCGTGGCCATGAAACACA	0.458000														22			11		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262173	45262173	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:45262173G>A	uc003jok.3	-	7	2548	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	841				L -> F (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TCTGTCGGAAGAGGGTGACGC	0.667000														41			6		0	0	1	0	0
C9orf129	445577	broad.mit.edu	37	9	96097661	96097661	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:96097661C>T	uc010mre.3	-	2	724	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	120										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CTCACTTTGTCGCCCCTCCGC	0.632000														22			12		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123670525	123670525	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:123670525T>C	uc001lfp.3	-	4	561	c.479A>G	c.(478-480)aAa>aGa	p.K160R	ATE1_uc001lfq.3_Missense_Mutation_p.K160R|ATE1_uc010qtr.2_Missense_Mutation_p.K45R|ATE1_uc010qts.2_Missense_Mutation_p.K64R|ATE1_uc010qtt.2_Missense_Mutation_p.K153R|ATE1_uc001lfr.3_5'UTR|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	160					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGTTCTTCTTTCTTTGAATT	0.373000														34			23		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626661	44626661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:44626661G>A	uc021xnx.1	-	4	654	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	213						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGACCATGGGGAGCAGGCAG	0.542000														10			13		0	0	1	0	0
C2orf29	55571	broad.mit.edu	37	2	101883186	101883186	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:101883186C>T	uc002taw.4	+	4	1165	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	Homo sapiens chromosome 2 open reading frame 29 (C2orf29), mRNA.	361					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|skin(1)	17						ACCATATTGGCCTCACCCCAG	0.423000														94			43		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7491976	7491976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:7491976C>T	uc003src.1	-	17	1600	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	COL28A1_uc011jxe.1_Missense_Mutation_p.V178M|COL28A1_uc003srd.3_Missense_Mutation_p.V50M	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	495					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCAATTCCCACTGGTCCTCGA	0.398000														46			59		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621770	7621770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:7621770C>T	uc021pmv.1	-	8	1472	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	ITIH5_uc021pmu.1_Missense_Mutation_p.G242S|ITIH5_uc001ijr.2_Missense_Mutation_p.G456S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	456	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGTGTGAGGCCACAGTTCTCC	0.622000														51			45		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766995	57766995	+	Silent	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57766995G>C	uc002yan.3	+	0	921	c.921G>C	c.(919-921)ccG>ccC	p.P307P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	307						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAAGTCGCCGACCGCCGGGA	0.701000														24			12		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828327	18828327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:18828327G>A	uc001ipr.2	+	13	1717	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	CACNB2_uc001ipt.2_Missense_Mutation_p.E515K|CACNB2_uc009xjz.1_Missense_Mutation_p.E303K|CACNB2_uc001ips.2_Missense_Mutation_p.E529K|CACNB2_uc001ipu.3_Missense_Mutation_p.E525K|CACNB2_uc001ipv.3_Missense_Mutation_p.E501K|CACNB2_uc009xka.2_Missense_Mutation_p.E487K|CACNB2_uc001ipw.2_Missense_Mutation_p.E460K|CACNB2_uc001ipx.2_Missense_Mutation_p.E498K|CACNB2_uc001ipz.2_Missense_Mutation_p.E475K|CACNB2_uc001ipy.2_Missense_Mutation_p.E499K|CACNB2_uc010qco.1_Missense_Mutation_p.E467K|CACNB2_uc001iqa.2_Missense_Mutation_p.E505K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	553					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R553H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCCAGGCAAGAGACATTTGA	0.557000														21			9		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946981	40946981	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:40946981C>T	uc003gvn.3	-	6	1575	c.945G>A	c.(943-945)acG>acA	p.T315T	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Silent_p.T314T|APBB2_uc003gvm.3_Silent_p.T314T|APBB2_uc011byt.1_Silent_p.T297T	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	314	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCCACTGAGTCGTTCCTGTTG	0.537000														50			65		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691916	106691916	+	RNA	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:106691916G>A	uc021ser.1	-	1156		c.25077C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.587000														15			87		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643952	138643952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:138643952C>T	uc004fas.1	+	7	1137	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	F9_uc004fat.1_Nonsense_Mutation_p.Q332*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	370	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTTAGTTCTTCAGTACCTTAG	0.448000														5			33		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785505	151785505	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:151785505A>T	uc001ezh.3	-	8	1311	c.1203T>A	c.(1201-1203)ttT>ttA	p.F401L	RORC_uc001ezg.3_Missense_Mutation_p.F380L|RORC_uc010pdo.2_Missense_Mutation_p.F455L|RORC_uc010pdp.2_Missense_Mutation_p.F389L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	401	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGAAGTCAAAGATGGAGC	0.537000														50			35		0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99755311	99755311	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:99755311C>T	uc003utr.3	-	2	762	c.582G>A	c.(580-582)caG>caA	p.Q194Q	C7orf43_uc010lgo.3_5'Flank|C7orf43_uc010lgp.3_5'Flank|C7orf43_uc011kjj.2_5'UTR|C7orf43_uc003uts.3_5'UTR|C7orf43_uc022aih.1_5'Flank	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	194										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATCGGGTCTGCAGCAATC	0.577000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		227			49		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798250	14798250	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14798250C>T	uc001rcd.3	-	16	1848	c.1711_splice	c.e16-1	p.E571_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	571	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTAAAACTTCCTGAATAGGAA	0.333000														21			22		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143224	42143224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:42143224G>A	uc002xkl.3	+	0	149	c.40G>A	c.(40-42)Ggt>Agt	p.G14S	L3MBTL1_uc010zwh.2_Intron|L3MBTL1_uc010ggk.2_Missense_Mutation_p.G14S|L3MBTL1_uc002xkm.3_Missense_Mutation_p.G14S|L3MBTL1_uc010ggl.3_Missense_Mutation_p.G14S	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	14					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCGAGATGGGTCAAGGACC	0.637000														10			13		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241421665	241421665	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:241421665G>A	uc010fzd.1	-	15	2945	c.2820C>T	c.(2818-2820)ccC>ccT	p.P940P	ANKMY1_uc002vzb.1_Silent_p.P612P|ANKMY1_uc002vzc.1_Silent_p.P630P|ANKMY1_uc002vyz.1_Silent_p.P851P|ANKMY1_uc002vza.1_Silent_p.P627P|ANKMY1_uc002vzd.1_Silent_p.P674P	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	851							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCCTGTGGCTGGGGATCAGCT	0.632000														12			39		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155029730	155029730	+	Silent	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155029730A>C	uc001fgr.1	+	11	1316	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Silent_p.G90G|ADAM15_uc010pet.1_Silent_p.G389G|ADAM15_uc010peu.1_Silent_p.G422G|ADAM15_uc001fgx.1_Silent_p.G405G|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.G405G|ADAM15_uc001fgs.1_Silent_p.G405G|ADAM15_uc010pev.1_Silent_p.G415G|ADAM15_uc001fgu.1_Silent_p.G405G|ADAM15_uc001fgv.1_Silent_p.G405G|ADAM15_uc001fgw.1_Silent_p.G405G	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	405	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.G405E(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCCTGGATGGAATGGGCAGCT	0.617000														29			36		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021092	5021092	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5021092T>A	uc010qyu.2	+	0	880	c.880T>A	c.(880-882)Tat>Aat	p.Y294N		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	294					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)		CCCTATTGTCTATAGTGTCAG	0.453000														35			13		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720613	121720613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:121720613C>T	uc003ees.3	-	3	681	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ILDR1_uc003eeq.3_Missense_Mutation_p.E172K|ILDR1_uc003eer.3_Missense_Mutation_p.E160K|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	160	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGCTTTACTTCCTTATCGGGG	0.458000														84			58		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715923	13715923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:13715923C>T	uc001rbt.2	-	12	4428	c.4249G>A	c.(4249-4251)Gcc>Acc	p.A1417T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1417					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			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)	TCCGGCCTGGCTTTCGACGCC	0.607000														12			11		0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683387	182683387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:182683387C>T	uc003fld.1	-	1	207	c.158G>A	c.(157-159)cGa>cAa	p.R53Q		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA.	53						ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TACACTCTCTCGTATATAAAG	0.348000														62			5		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826487	48826487	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:48826487G>A	uc004dlx.1	-	0	1765	c.192C>T	c.(190-192)acC>acT	p.T64T	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	64						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGCCCAGCAAGGTGTCTGGGT	0.562000														13			4		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7015068	7015068	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7015068G>A	uc001qrt.4	+	2	578	c.186G>A	c.(184-186)aaG>aaA	p.K62K	LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Silent_p.K62K|LRRC23_uc001qrq.3_Silent_p.K62K|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Silent_p.K62K	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	62										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGCTCTGTAAGACAGGCAATG	0.557000														51			35		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544848	55544848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:55544848G>A	uc002ryv.2	-	19	4293	c.3451C>T	c.(3451-3453)Ctc>Ttc	p.L1151F	CCDC88A_uc010ypa.1_Missense_Mutation_p.L1151F|CCDC88A_uc010yoz.1_Missense_Mutation_p.L1152F|CCDC88A_uc002ryu.2_Missense_Mutation_p.L434F|CCDC88A_uc002rys.3_Missense_Mutation_p.L137F|CCDC88A_uc002ryw.3_Missense_Mutation_p.L435F|CCDC88A_uc010fby.1_Missense_Mutation_p.L31F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1152					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAATCATAGAGAGATTTTAGG	0.383000														54			3		0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67706033	67706033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:67706033C>T	uc003xwp.3	+	3	693	c.62C>T	c.(61-63)tCc>tTc	p.S21F	SGK3_uc003xwr.3_Missense_Mutation_p.S21F|SGK3_uc003xwt.3_Missense_Mutation_p.S21F|SGK3_uc003xwu.3_Missense_Mutation_p.S21F	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	21	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTCCCAGCTCCGATGAACAC	0.383000														24			21		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:142479926G>A	uc011ksq.2	+	1	141	c.58G>A	c.(58-60)Gat>Aat	p.D20N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCCCTTTGATGATGATGACAA	0.547000														71			115		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588665	140588665	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140588665G>A	uc003liz.3	+	0	375	c.186G>A	c.(184-186)cgG>cgA	p.R62R	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S61S(1)		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)			TGTCTTCGCGGGGGGCTCGGG	0.507000														14			71		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76411042	76411042	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76411042C>G	uc002jvm.3	+	7	1497	c.1485C>G	c.(1483-1485)caC>caG	p.H495Q	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.H208Q|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Missense_Mutation_p.H208Q	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	495					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGTCAGTTCACCGGGACCTGG	0.607000														5			38		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536082	1536082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:1536082C>T	uc010uvf.2	-	2	1280	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	432	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AACCAGCGCCCGATCCCAGAT	0.627000														39			44		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271684	164271684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:164271684G>A	uc003iqn.3	+	3	441	c.259G>A	c.(259-261)Gat>Aat	p.D87N	NPY5R_uc021xtw.1_Missense_Mutation_p.D87N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	87					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGCCTTTTCTGATATCTTGGT	0.413000														100			152		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33233114	33233114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33233114G>A	uc002xas.3	-	2	420	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	PIGU_uc010zul.2_Missense_Mutation_p.H74Y|PIGU_uc002xat.3_Intron|PIGU_uc010gev.1_Intron	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	74					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATTAGGAAATGAAAGAGGTAT	0.279000														20			13		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654258	654258	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:654258G>A	uc003gap.3	+	11	1523	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	PDE6B_uc003gao.4_Silent_p.K490K|PDE6B_uc011buy.2_Silent_p.K211K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	490					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						TCCCACAGAAGGAGGAGCTGC	0.567000														44			9		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124383315	124383315	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124383315C>T	uc001uft.4	+	54	9265	c.9240C>T	c.(9238-9240)gcC>gcT	p.A3080A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3080	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAGTCCGCCGCCTGCGAGG	0.642000														15			11		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533636	55533636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:55533636G>A	uc003xsd.1	+	1	258	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	RP1_uc011ldy.1_Missense_Mutation_p.R37Q	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	37	Doublecortin 1.				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)			GTGGCCAAGCGAATCAGTTTC	0.522000														55			55		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242361	118242361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:118242361C>T	uc004era.4	-	5	851	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	284										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAGCACAGCTCCTGACATGGC	0.478000														10			66		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647371	121647371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:121647371C>T	uc003eep.2	+	14	1463	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S406F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	437					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAAAACAATTCTCTGTTGATA	0.428000														160			36		0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130551705	130551705	+	Silent	SNP	C	T	T	rs142704308		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130551705C>T	uc004bse.2	+	6	1125	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	334					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						ACCTGACGTCCATGTTCGAGT	0.632000														109			72		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257755	18257756	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:18257755_18257756CA>TT	uc022asl.1	+	0	242_243	c.242_243CA>TT	c.(241-243)aca>aTT	p.T81I	NAT2_uc003wyw.1_Missense_Mutation_p.T81I	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	81					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GCTCTGACCACAATCGGTTTTC	0.465000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					74			18		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12027068	12027068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12027068C>T	uc010obb.2	+	16	1929	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	PLOD1_uc001atm.3_Missense_Mutation_p.P559S	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	559					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTATTGGTTCCCCATCTTCAC	0.607000														83			85		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7244122	7244123	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7244122_7244123CC>TT	uc010sfy.2	-	1	215_216	c.156_157GG>AA	c.(154-159)acggga>acAAga	p.G53R	C1R_uc010sfz.1_Missense_Mutation_p.G67R|C1R_uc021quh.1_5'UTR|C1R_uc010sga.1_Missense_Mutation_p.G53R	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	53	CUB 1.				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)	ACCCTGTATCCCGTGGGGACTG	0.535000														8			5		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281676	69281676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:69281676G>A	uc009xpn.1	-	4	626	c.503C>T	c.(502-504)tCt>tTt	p.S168F	CTNNA3_uc001jmw.2_Missense_Mutation_p.S168F|CTNNA3_uc001jmx.4_Missense_Mutation_p.S168F|CTNNA3_uc009xpo.1_Missense_Mutation_p.S28F|CTNNA3_uc001jna.2_Missense_Mutation_p.S180F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	168					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGGAGGTCAGATTTGTTGGC	0.393000														32			21		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422411	26422411	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:26422411G>A	uc003abz.1	+	43	6721	c.6471_splice	c.e43-1	p.R2157_splice	MYO18B_uc003aca.1_Splice_Site_p.R2038_splice|MYO18B_uc010guy.1_Splice_Site_p.R2039_splice|MYO18B_uc010guz.1_Splice_Site_p.R2037_splice|MYO18B_uc011aka.1_Splice_Site_p.R1311_splice|MYO18B_uc011akb.1_Splice_Site_p.R1670_splice|MYO18B_uc010gva.1_Splice_Site_p.R140_splice|MYO18B_uc010gvb.1_Splice_Site	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2157						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						CTTGGCACAGGATAAACGAAG	0.488000														164			109		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657439	40657439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:40657439G>A	uc001zlk.1	+	5	900	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	271					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)		GCCCCTGGAGGACAGAAGGCA	0.612000														2			34		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927242	31927242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:31927242C>T	uc002ecs.4	+	3	1881	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	558					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						CAAAGCCTTTCCTTATAGTTC	0.353000														12			25		0	0	1	0	0
PRADC1	84279	broad.mit.edu	37	2	73455927	73455927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:73455927C>T	uc002siy.3	-	3	510	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	Homo sapiens protease-associated domain containing 1 (PRADC1), mRNA.	148	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACCCGTCTCGGCCGAGC	0.592000														26			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188633	140188633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140188633C>T	uc003lhi.2	+	0	1962	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P621S|PCDHAC2_uc011daa.2_Missense_Mutation_p.P621S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	632	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)			CGCGCGCATCCCGTTCCGCGT	0.672000														20			111		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43614995	43614995	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:43614995C>T	uc001jal.3	+	13	2599	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	RET_uc001jak.1_Silent_p.I803I|RET_uc010qez.1_Silent_p.I549I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	803	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTCCTCATCGTGGAGTACG	0.706000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					1			2		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103271215	103271216	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:103271215_103271216GA>TT	uc003ykr.2	-	56	8553_8554	c.8098_8099TC>AA	c.(8098-8100)tca>AAa	p.S2700K	UBR5_uc003yks.2_Missense_Mutation_p.S2699K|UBR5_uc003ykq.3_Missense_Mutation_p.S211K	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2700	HECT.				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)			TGTCCTACCTGATTCATCATTG	0.342000														40			12		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452895	123452895	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:123452895G>A	uc003ego.3	-	9	1230	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MYLK_uc011bjw.2_Silent_p.P316P|MYLK_uc003egp.3_Silent_p.P316P|MYLK_uc003egq.3_Silent_p.P316P|MYLK_uc003egr.3_Silent_p.P316P|MYLK_uc003egs.3_Silent_p.P140P	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	316					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCCCTTGGGGGCTGAGGCT	0.642000														51			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8188379G>A	uc002mjf.3	-	22	3068	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1017	EGF-like 12; 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						CATCCAGGGCGAAGCCCCCCG	0.597000														17			14		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701590	143701590	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143701590C>T	uc003wdt.1	+	0	501	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCTGCCTCAGCTTCTGTGGTC	0.502000														28			22		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1112039	1112039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1112039C>T	uc002lrk.4	-	22	2894	c.2656G>A	c.(2656-2658)Gcc>Acc	p.A886T	SBNO2_uc002lrj.4_Missense_Mutation_p.A829T|SBNO2_uc010dse.3_Missense_Mutation_p.A869T	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	886					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)		GACTCCGTGGCGCGGCGGTCT	0.662000														51			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708340	13708340	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13708340G>A	uc003jfd.2	-	75	13272	c.13230C>T	c.(13228-13230)acC>acT	p.T4410T	DNAH5_uc003jfc.2_Silent_p.T578T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4410					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCAGTGAGGGTGCTGCGGA	0.483000									Kartagener syndrome					167			21		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122769	41122769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:41122769C>T	uc003xnt.3	-	2	1174	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	288	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTTTCTTGTCCCACTTGTGG	0.517000														69			17		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52759346	52759346	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:52759346C>T	uc001cto.3	+	10	3419	c.3247C>T	c.(3247-3249)Cga>Tga	p.R1083*	ZFYVE9_uc001ctp.3_Nonsense_Mutation_p.R1024*	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	1083					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGCTGAATATCGACGTAAGTA	0.388000														25			27		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74140759	74140759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74140759C>T	uc002sjw.3	+	5	721	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ACTG2_uc010yrn.2_Missense_Mutation_p.S157F|ACTG2_uc010fey.3_Missense_Mutation_p.S200F	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	200					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGAGGCTATTCCTTTGTGACC	0.512000														18			56		0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1023639	1023639	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1023639G>A	uc001qis.1	-	9	1039	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Silent_p.L232L|RAD52_uc001qiu.1_Silent_p.L309L|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Non-coding_Transcript	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	309					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCTTTCTCCAGGAGTGGTTCT	0.478000								Homologous recombination						28			37		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543573	37543574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:37543573_37543574GG>AA	uc002rqd.3	-	0	649_650	c.94_95CC>TT	c.(94-96)cct>TTt	p.P32F	PRKD3_uc002rqf.1_Missense_Mutation_p.P32F	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	32					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TCCCGTCTTAGGACTTGAACAC	0.495000														61			7		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649568	20649568	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:20649568C>T	uc001ytg.3	-	17	2650	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.G647G|HERC2P3_uc010tyy.2_Silent_p.G647G					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCCTTCTTTCCCCATCCTGT	0.597000														160			83		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060559	8060559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:8060559G>A	uc001mfy.3	+	0	380	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	TUB_uc010rbk.2_Intron	NM_003320	NP_003311	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 1, mRNA.	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCTGAAACGGGGCCACCGAAG	0.572000														8			19		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022406	20022406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:20022406G>A	uc011kyq.2	-	10	1460	c.989C>T	c.(988-990)aCc>aTc	p.T330I	SLC18A1_uc003wzm.3_Missense_Mutation_p.T330I|SLC18A1_uc011kyr.2_Missense_Mutation_p.T330I|SLC18A1_uc003wzn.3_Intron|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.	330					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)		GGAGCACATGGTCTGCATCAT	0.617000														62			49		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992935	28992935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:28992935G>A	uc002kwr.2	+	14	2692	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	DSG4_uc002kwq.2_Missense_Mutation_p.E834K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	834					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E853*(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)			AAGCTGCATGGAAACTTTAGA	0.433000														46			43		0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557707	170557707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:170557707C>T	uc021vsh.1	+	3	544	c.226C>T	c.(226-228)Cca>Tca	p.P76S	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.P76S|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.P76S|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.P76S|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.P76S|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.P76S	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	76							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GCCTTTCACTCCAGGGATGGT	0.348000														44			6		0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36671045	36671045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:36671045C>T	uc003zzn.3	+	15	1694	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L	MELK_uc011lpm.2_Missense_Mutation_p.P388L|MELK_uc011lpn.2_Missense_Mutation_p.P478L|MELK_uc011lpo.2_Missense_Mutation_p.P325L|MELK_uc010mll.3_Missense_Mutation_p.P487L|MELK_uc011lpp.2_Missense_Mutation_p.P471L|MELK_uc010mlm.3_Missense_Mutation_p.P448L|MELK_uc011lpr.2_Missense_Mutation_p.P448L|MELK_uc011lpq.2_Missense_Mutation_p.P325L|MELK_uc011lps.2_Missense_Mutation_p.P439L	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	519						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GAGGAGACTCCAAAAAGAAAG	0.502000														3			28		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501596	90501597	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:90501596_90501597GA>AC	uc004app.4	+	3	2229_2230	c.2194_2195GA>AC	c.(2194-2196)gaa>ACa	p.E732T	FAM75E1_uc004apo.1_Missense_Mutation_p.E544T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	732						integral to membrane											GGCTCTGGACGAAGACAAGGAG	0.559000														25			11		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257886	158257886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:158257886G>A	uc003ipm.4	+	10	2290	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GRIA2_uc011cit.2_Missense_Mutation_p.D564N|GRIA2_uc003ipl.4_Missense_Mutation_p.D611N|GRIA2_uc003ipk.4_Missense_Mutation_p.D564N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	611					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCAAGGATGCGATATTTCGCC	0.398000														72			16		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359348	128359348	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:128359348T>C	uc003kuy.3	+	6	1596	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	SLC27A6_uc003kuz.3_Silent_p.F400F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	400					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)		AGTATGACTTTCAGAAAGATG	0.323000														8			8		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175775	120175775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:120175775G>A	uc021qrk.1	+	6	521	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	POU2F3_uc001pxc.3_Missense_Mutation_p.E161K|POU2F3_uc010rzk.2_Missense_Mutation_p.E115K|POU2F3_uc010rzl.2_Missense_Mutation_p.E91K|POU2F3_uc001pxe.1_5'Flank	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	161					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.P162H(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ATCCTCTTTAGAACCCCACCT	0.527000														9			36		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950458	68950458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:68950458C>T	uc003xxv.1	+	6	797	c.770C>T	c.(769-771)tCt>tTt	p.S257F	PREX2_uc003xxu.1_Missense_Mutation_p.S257F|PREX2_uc011lez.1_Missense_Mutation_p.S192F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	257	PH.				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						AAAATTTCTTCTGGAAATATT	0.388000														19			7		0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46092966	46092966	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:46092966T>C	uc001vak.3	+	17	2142	c.2000T>C	c.(1999-2001)tTg>tCg	p.L667S	COG3_uc010tfv.2_Missense_Mutation_p.L504S|COG3_uc010aci.3_Missense_Mutation_p.L443S	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	667					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AACAATGCCTTGATAGAGTTC	0.393000														25			53		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7810698A>G	uc002mht.2	-	3	521	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.W128R|CD209_uc002mhr.2_Missense_Mutation_p.W128R|CD209_uc002mhs.2_Missense_Mutation_p.W128R|CD209_uc002mhu.2_Missense_Mutation_p.W152R|CD209_uc010dvq.2_Missense_Mutation_p.W152R|CD209_uc002mhq.2_Missense_Mutation_p.W152R|CD209_uc002mhv.2_Missense_Mutation_p.W128R|CD209_uc002mhx.2_Missense_Mutation_p.W108R|CD209_uc002mhw.2_Missense_Mutation_p.W108R|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	152	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.W152R(6)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557000														173			7		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19433144	19433144	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:19433144C>T	uc001bbi.3	-	82	12316	c.12312G>A	c.(12310-12312)agG>agA	p.R4104R	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4104					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGTTTCCACCTCCACACAT	0.552000														124			116		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36779354	36779354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:36779354C>T	uc002xhr.3	-	3	639	c.539G>A	c.(538-540)tGg>tAg	p.W180*	TGM2_uc010zvx.2_Nonsense_Mutation_p.W99*|TGM2_uc010zvy.2_Nonsense_Mutation_p.W120*|TGM2_uc002xhs.1_Nonsense_Mutation_p.W156*|TGM2_uc002xht.3_Nonsense_Mutation_p.W180*|TGM2_uc002xhu.3_Nonsense_Mutation_p.W180*	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	180					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCAAAATTCCAAGGTATGTT	0.587000														170			121		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418550	8418550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:8418550G>A	uc001ape.3	-	20	4855	c.4045C>T	c.(4045-4047)Cgg>Tgg	p.R1349W	RERE_uc001apf.3_Missense_Mutation_p.R1349W|RERE_uc001apd.3_Missense_Mutation_p.R795W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1349					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1349Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGCTGTGCCGGGCAAAGTGC	0.692000														18			9		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091156	34091156	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:34091156C>T	uc021wco.1	+	29	5606	c.4959C>T	c.(4957-4959)ctC>ctT	p.L1653L	CEP250_uc010zve.2_Silent_p.L1021L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1653	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCAGGATCTCGAGAGGAGAG	0.567000														92			79		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619542	141619542	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:141619542C>T	uc003vwu.1	+	0	867	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	289					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)					ATCCTTTCATCTTCACCCTCC	0.458000														76			5		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42771212	42771212	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:42771212C>T	uc002yzf.1	+	9	1466	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	MX2_uc002yzg.1_Silent_p.I177I|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	454					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACAACAAAATCAGAGAGGATT	0.393000														68			26		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81972454	81972454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:81972454C>T	uc002fgt.3	+	28	3425	c.3247C>T	c.(3247-3249)Ccc>Tcc	p.P1083S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1083	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527000														18			38		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180756945	180756945	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:180756945C>T	uc001goi.3	+	2	370	c.178C>T	c.(178-180)Caa>Taa	p.Q60*	XPR1_uc009wxm.2_Nonsense_Mutation_p.Q60*|XPR1_uc009wxn.3_Nonsense_Mutation_p.Q60*	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	60	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAAGTTTTTCCAAACCTGTGA	0.343000														44			55		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363239	22363239	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:22363239C>T	uc001mqk.3	+	1	665	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	84					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTGCATCTCCTTCGGTATCC	0.632000														21			37		0	0	1	0	0
TM2D2	83877	broad.mit.edu	37	8	38853913	38853913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:38853913G>A	uc003xmk.3	-	0	129	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ADAM9_uc010lwr.3_5'Flank|ADAM9_uc003xmr.3_5'Flank|ADAM9_uc011lcf.2_5'Flank|ADAM9_uc011lcg.2_5'Flank|TM2D2_uc003xml.3_5'UTR|TM2D2_uc003xmm.3_Intron|TM2D2_uc003xmn.3_Intron|ADAM9_uc003xmp.3_5'Flank	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	Homo sapiens TM2 domain containing 2 (TM2D2), transcript variant 1, mRNA.	16						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAAGCCGCCTGGCCGCACAGA	0.612000														107			80		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016408	121016408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:121016408C>T	uc010rzo.2	+	10	3688	c.3688C>T	c.(3688-3690)Cct>Tct	p.P1230S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1230	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCACAGTCCCTCGGAGCAT	0.507000														7			20		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337808	115337808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:115337808C>T	uc001lai.4	+	5	575	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	HABP2_uc021pyr.1_Missense_Mutation_p.P132S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.T146T	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	158	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CAGGCCAAACCCCTGCCAGAA	0.532000														39			26		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137734005	137734005	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:137734005C>T	uc004cfe.3	+	65	5755	c.5373C>T	c.(5371-5373)acC>acT	p.T1791T	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1791	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCCCCAGACCAAGAAAGGCT	0.547000														43			19		0	0	1	0	0
TAC4	255061	broad.mit.edu	37	17	47921472	47921472	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:47921472C>T	uc002ipo.1	-	1	171	c.171G>A	c.(169-171)acG>acA	p.T57T	TAC4_uc002ipp.1_Silent_p.T51T|TAC4_uc002ipq.1_Silent_p.T51T|TAC4_uc002ipr.1_Silent_p.T51T|TAC4_uc002ips.1_Silent_p.T51T|TAC4_uc002ipt.3_Non-coding_Transcript|TAC4_uc002ipu.3_Non-coding_Transcript|FLJ45513_uc021tzt.1_5'Flank	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	57					regulation of blood pressure	extracellular region		p.T57T(2)		breast(1)|large_intestine(1)|lung(3)	5						TTGCCTTGCCCGTCTTCACCT	0.577000														23			189		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1042381	1042381	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1042381G>A	uc002lqw.4	+	5	714	c.483G>A	c.(481-483)acG>acA	p.T161T	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Silent_p.T161T	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	161					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)		AGCTGCTGACGTCACTGCTGC	0.682000														126			4		0	0	1	0	0
ZNF271	10778	broad.mit.edu	37	18	32887558	32887558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:32887558C>T	uc002kyq.4	+	2	1962	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	ZNF271_uc002kyp.4_Missense_Mutation_p.H324Y|ZNF271_uc002kyr.4_Missense_Mutation_p.H324Y					Homo sapiens zinc finger protein 271 (ZNF271), transcript variant 1, non-coding RNA.											large_intestine(3)|lung(9)	12						TCTCATTAACCATCAAAAAAT	0.438000														12			16		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159576	94159576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:94159576C>T	uc011cdt.2	+	7	1438	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	GRID2_uc011cdu.2_Missense_Mutation_p.P299S|GRID2_uc010ikz.1_Missense_Mutation_p.P75S	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	394					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			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)	TGGAGGCAATCCCAATGTCCA	0.403000														27			31		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729967	18729967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:18729967G>A	uc003wza.3	-	2	510	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	136					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTCAGAGCTGAAATCAAAGA	0.458000														97			89		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002657	122002657	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:122002657T>C	uc003eew.4	+	6	2324	c.1886T>C	c.(1885-1887)tTt>tCt	p.F629S	CASR_uc003eev.4_Missense_Mutation_p.F619S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	619					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACCCTCTTTGCCGTGCTG	0.542000														50			40		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373934	39373934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:39373934C>T	uc010hhr.2	+	1	250	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.L38F	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	38					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAAGTTGCTCCTTGCTGTCTT	0.478000														7			70		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199241	20199241	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:20199241T>C	uc003sus.4	-	4	1052	c.743A>G	c.(742-744)gAg>gGg	p.E248G	MACC1_uc010kug.3_Missense_Mutation_p.E248G	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	248					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAGAGACACCTCTTGGAATTC	0.473000														47			46		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627289	133627289	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133627289G>A	uc003ytk.3	-	7	1043	c.969C>T	c.(967-969)gtC>gtT	p.V323V	LRRC6_uc022bbp.1_Silent_p.V323V|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	323	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTACCTATAGACAGCAAGGT	0.303000														39			25		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79191252	79191252	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:79191252C>A	uc001vkw.1	-	5	703	c.644G>T	c.(643-645)gGa>gTa	p.G215V	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.G25V	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	215							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGCAAACCTTCCAAACCTACA	0.393000														19			27		2.2171e-23	2.27257e-23	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219903674	219903674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:219903674G>A	uc002vjl.1	-	2	181	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	33						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCTTAGGAGAAGAGGAATA	0.453000														79			7		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115466111	115466111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115466111G>A	uc001efr.3	+	20	1969	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R587K|SYCP1_uc009wgw.3_Missense_Mutation_p.R587K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	587					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAGAAAAGAGATGAAGTT	0.274000														5			4		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370460	17370460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:17370460G>A	uc002nfs.1	-	5	963	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Nonsense_Mutation_p.Q220*|USHBP1_uc010eam.1_Nonsense_Mutation_p.Q212*	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	284							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGAGGGGCTGGTTGGGAAGA	0.582000														97			66		0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530418	39530418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39530418G>A	uc003axb.3	-	4	675	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CBX7_uc003axc.3_Missense_Mutation_p.P103S	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin		p.P196S(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCCTCTTCAGGGGGCTGCGCA	0.662000														17			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923989	24923989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:24923989G>A	uc001ywo.3	+	0	3449	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	992					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)		CCTGGCACTGGAGACAGTACC	0.502000														2			33		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433261	104433261	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:104433261C>T	uc004bbp.2	-	2	2034	c.1433G>A	c.(1432-1434)tGg>tAg	p.W478*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W478*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	478					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGCGGGTCCACATTGGCTT	0.498000														32			37		0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127700867	127700867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:127700867C>T	uc004bpc.3	-	2	466	c.124G>A	c.(124-126)Gga>Aga	p.G42R	GOLGA1_uc010mwt.1_Missense_Mutation_p.G42R	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	42						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAGTCATCTCCTGAGTCAGCT	0.403000														47			17		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100356181	100356181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100356181G>A	uc003uwj.3	+	16	3644	c.3479G>A	c.(3478-3480)gGa>gAa	p.G1160E	ZAN_uc003uwk.3_Missense_Mutation_p.G1160E|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.	1160	VWFD 1.				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)			TTGGTCTACGGAGACCCTCAT	0.602000														5			7		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540643	169540643	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169540643C>T	uc003fgb.3	+	0	934	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	312										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGACCTAAGCCAGAACCATCT	0.567000														28			23		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916645	72916645	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72916645T>A	uc002jme.1	-	1	469	c.286A>T	c.(286-288)Aac>Tac	p.N96Y	USH1G_uc010wro.1_5'UTR	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	96					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGTAGTCGTTGTCTAGGCAC	0.607000														12			98		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730737	140730737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140730737G>A	uc003ljo.2	+	0	910	c.910G>A	c.(910-912)Gat>Aat	p.D304N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.D304N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	309	Cadherin 3.				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)			TGGCACATTGGATTTTGAAGA	0.413000														7			85		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167420156	167420156	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:167420156C>T	uc010jjd.3	+	4	1155	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	ODZ2_uc021yhi.1_Silent_p.L315L|ODZ2_uc003lzq.2_Silent_p.L264L|ODZ2_uc003lzr.4_Silent_p.L194L	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)		CCGCGGCCCTCCTCTTGGCTA	0.537000														35			18		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230906	36230906	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:36230906A>C	uc003gsq.2	-	1	541	c.203T>G	c.(202-204)tTg>tGg	p.L68W	ARAP2_uc003gsr.1_Missense_Mutation_p.L68W	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	68	SAM.				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						CATTTTTGACAAGATTATCTG	0.368000														23			9		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212549	8212549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:8212549G>A	uc001qtv.1	-	1	325	c.233C>T	c.(232-234)tCg>tTg	p.S78L	C3AR1_uc021quj.1_Missense_Mutation_p.S78L	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	78					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGAGCCAGCGAGAAGGGCAA	0.577000														10			11		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697158	94697158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:94697158G>A	uc001dqj.4	-	1	379	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.H4Y	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	4					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTGTTTGTGAGCAATCATC	0.383000														58			17		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102453803	102453803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:102453803C>T	uc003vaq.2	-	19	2621	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	FBXL13_uc010liq.1_Missense_Mutation_p.D265N|FBXL13_uc010lir.1_Missense_Mutation_p.D687N|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.D704N	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	732										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTGCTTGGTCTTCACTGCTG	0.398000														31			18		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125887819	125887819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:125887819C>T	uc003ktx.3	-	13	1403	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ALDH7A1_uc003ktv.3_Missense_Mutation_p.R25H|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R367H	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity	p.R376H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	ATTTCCAGGGCGATCCATAAC	0.398000														14			7		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348175	348176	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:348175_348176GG>AA	uc003msx.3	+	5	775_776	c.336_337GG>AA	c.(334-339)gaggat>gaAAat	p.D113N	DUSP22_uc011dhn.1_Missense_Mutation_p.D113N|DUSP22_uc003msy.1_Missense_Mutation_p.D70N	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	113	Tyrosine-protein phosphatase.				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)		TTGGCTGGGAGGATGCCCTGCA	0.599000														284			94		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400512	9400512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:9400512G>A	uc021wam.1	+	21	2089	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	PLCB4_uc010gbw.1_Missense_Mutation_p.E692K|PLCB4_uc010gbx.3_Missense_Mutation_p.E704K|PLCB4_uc021wal.1_Missense_Mutation_p.E692K|PLCB4_uc002wnh.3_Missense_Mutation_p.E539K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	692	C2.				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						CCCCTTCTCTGAAACTCCTGT	0.438000														152			95		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131996253	131996253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:131996253G>A	uc003qcu.4	+	9	1143	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.A232T|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.A266T|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	266	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGGTTTAAAAGCCGCTACCTA	0.408000														5			36		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973537	64973537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:64973537G>A	uc001jmn.3	-	7	2690	c.2390C>T	c.(2389-2391)cCc>cTc	p.P797L	JMJD1C_uc001jml.3_Missense_Mutation_p.P578L|JMJD1C_uc001jmm.3_Missense_Mutation_p.P509L|JMJD1C_uc010qiq.2_Missense_Mutation_p.P615L|JMJD1C_uc009xpi.3_Missense_Mutation_p.P615L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.P509L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	797					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAACACAGTGGGAAGTAAATG	0.507000														17			13		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2831998	2831998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:2831998C>T	uc022aqr.1	-	55	9105	c.8715G>A	c.(8713-8715)tgG>tgA	p.W2905*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.W2235*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.W916*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2906	Sushi 21.					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)		GTGCCCCGCTCCAGTGACTGT	0.502000														38			26		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712535	6712535	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6712535A>C	uc002mfm.3	-	9	1165	c.1103T>G	c.(1102-1104)aTg>aGg	p.M368R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	368					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)		GTCAAAGGGCATTCCTGGTTT	0.627000														137			78		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491323	151491323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:151491323G>A	uc009wmw.3	+	1	472	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	104	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity	p.G110R(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGTCAAGGGATTTCCTGC	0.587000														7			12		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42808345	42808345	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:42808345T>C	uc011cps.2	-	2	299	c.201A>G	c.(199-201)agA>agG	p.R67R	SEPP1_uc011cpt.2_Silent_p.R37R|SEPP1_uc011cpu.2_Silent_p.R37R|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	37					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GATCTTGATCTCTTATGCTCC	0.522000														32			10		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:71134991G>A	uc003tvy.3	+	7	1301	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_uc003tvz.3_Missense_Mutation_p.R133K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E433D(1)		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)				GTCTCCGAAAGAAGAGCATTA	0.463000														61			24		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585697	43585697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:43585697C>T	uc001zrf.1	-	1	148	c.143G>A	c.(142-144)aGc>aAc	p.S48N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	48					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAAGGGTCGGCTGAAGCTCAG	0.622000														13			108		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167031894	167031894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:167031894G>A	uc011bpc.2	-	15	1622	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	ZBBX_uc003feq.3_Missense_Mutation_p.H400Y|ZBBX_uc003fep.3_Missense_Mutation_p.H429Y	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	429						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGACAATCATGAAAAGCACAA	0.289000														24			8		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33581441	33581441	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:33581441G>A	uc021qfs.1	+	5	3235	c.3111G>A	c.(3109-3111)ccG>ccA	p.P1037P	C11orf41_uc001mun.1_Silent_p.P1043P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1037						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CCTATCCGCCGCTAACCATTG	0.567000														217			4		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67806951	67806951	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67806951A>C	uc002lkp.2	-	21	2739	c.2671_splice	c.e21-1	p.V891_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	891							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATTCTACAACCTGGGCCAG	0.403000														23			18		0	0	1	0	0
AK310228	0	broad.mit.edu	37	16	18434270	18434270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:18434270G>A	uc010bvu.2	-	0	355	c.68C>T	c.(67-69)aCc>aTc	p.T23I	NPIP_uc021tdy.1_Intron					SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		CACCTTCACGGTGATGGCGCG	0.682000														45			9		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305520	9305520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:9305520T>A	uc001apt.3	+	1	800	c.527T>A	c.(526-528)tTt>tAt	p.F176Y		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	176	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GAGAAACCCTTTGGCCATGAC	0.592000														43			65		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54966554	54966555	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:54966554_54966555CC>TT	uc002qfv.1	+	6	866_867	c.722_723CC>TT	c.(721-723)gcc>gTT	p.A241V	LENG8_uc002qfw.2_Missense_Mutation_p.A278V			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	241							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGTCCTCTGCCCGGGGGAACC	0.624000														56			12		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359083	24359083	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24359083C>T	uc003xeb.3	+	19	2315	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	ADAM7_uc003xec.3_Silent_p.F506F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	734					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)		AAATTCATTTCCTAAATGTAA	0.383000														22			22		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12973120	12973120	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:12973120G>A	uc003wwm.2	-	5	1839	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	DLC1_uc003wwk.1_Silent_p.F28F|DLC1_uc003wwl.1_Silent_p.F62F|DLC1_uc011kxx.1_5'UTR	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	465	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CATACTGGGGGAAACCAGTTG	0.423000														38			32		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296529	238296530	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:238296529_238296530CC>TT	uc002vwl.2	-	3	1292_1293	c.1007_1008GG>AA	c.(1006-1008)cgg>cAA	p.R336Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R130Q|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.R130Q|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R336Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	336	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCCCCCTGCCCGGGTGAAGTG	0.624000														25			4		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293967	7293967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7293967G>A	uc001qss.3	+	7	2027	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	CLSTN3_uc001qsr.3_Missense_Mutation_p.E485K	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	485					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCCGAAGGGAGCCTGCTCT	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			99		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19662566	19662566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:19662566G>A	uc002wrl.3	+	9	1029	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	278						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGGTCAACGGATTGGCCAA	0.498000														91			43		0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629825	32629825	+	Missense_Mutation	SNP	C	T	T	rs76620513		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32629825C>T	uc021yvz.1	-	2	662	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	HLA-DQB1_uc010juc.2_Missense_Mutation_p.E149K|HLA-DQB1_uc003obw.3_Missense_Mutation_p.E194K|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.E194K|HLA-DQB1_uc011dqe.2_3'UTR	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	194	Beta-2.|Ig-like C1-type.		E -> D (in dbSNP:rs9273952).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGTCATTTCCAGCATCACC	0.567000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					48			69		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585571	7585571	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:7585571G>A	uc003mxp.1	+	23	8355	c.8076G>A	c.(8074-8076)caG>caA	p.Q2692Q	DSP_uc003mxq.1_Silent_p.Q2093Q|DSP_uc021yle.1_Silent_p.Q2249Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2692	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCTGCTCAGAAAGCCTTCA	0.557000														102			58		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887509	131887509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:131887509C>T	uc003vra.4	-	11	2711	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	828	PSI 3.					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						TGGCCTGGGCCCTGGCACCAG	0.637000														7			7		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30357224	30357224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:30357224C>T	uc002ymr.2	-	3	516	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	122							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTGGCTTCTCGGACGCGACG	0.358000														18			17		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27004735	27004735	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:27004735C>T	uc010crt.3	+	8	1092	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUPT6H_uc002hby.3_Silent_p.L300L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	300					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CACTCCAGCTCCGCTCCATCC	0.463000														98			67		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161576702	161576702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:161576702G>A	uc010pkp.1	+	0	854	c.622G>A	c.(622-624)Gat>Aat	p.D208N						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		GGGCACCTTCGATGTGTCGGT	0.607000														7			63		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52422287	52422287	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:52422287C>T	uc011bef.2	+	56	9369	c.9108C>T	c.(9106-9108)atC>atT	p.I3036I	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3036	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACCTCCATCTGCCAGTGGG	0.602000														14			4		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675750	31675750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31675750G>A	uc003nwb.1	+	2	485	c.485G>A	c.(484-486)gGg>gAg	p.G162E	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.G162E	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	162						integral to membrane|plasma membrane		p.E161K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGGCAGGAAGGGAAGGGTCCC	0.627000														37			43		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698342	150698342	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150698342C>G	uc003wif.3	+	10	1553	c.1257C>G	c.(1255-1257)gaC>gaG	p.D419E	NOS3_uc011kuy.2_Missense_Mutation_p.D213E|NOS3_uc011kva.2_Missense_Mutation_p.D419E|NOS3_uc011kuz.2_Missense_Mutation_p.D419E|NOS3_uc011kvb.2_Missense_Mutation_p.D419E	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	419	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCATCGTGGACCACCACGCCG	0.627000														162			33		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505055	102505055	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:102505055C>T	uc001yks.2	+	58	11240	c.11076C>T	c.(11074-11076)ctC>ctT	p.L3692L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3692	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCAGATCTCTGTTCCCGGG	0.453000														10			100		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:45234324C>T	uc002ile.4	-	6	924	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_uc002ild.4_Missense_Mutation_p.R266Q|CDC27_uc002ilf.4_Missense_Mutation_p.R266Q|CDC27_uc010wkp.2_Missense_Mutation_p.R205Q|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.G265D(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358000														94			10		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790479	133790479	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:133790479G>A	uc001qgx.4	-	17	3372	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1047	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)		CCAGCCCCCCGAAGGGGAATT	0.657000														5			42		0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69172503	69172503	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:69172503A>G	uc002sfa.3	-	5	661	c.552T>C	c.(550-552)gtT>gtC	p.V184V	GKN2_uc002sfb.4_3'UTR	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	184						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AATCATCCTAAACATGAATGT	0.393000														29			146		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:173378897G>A	uc003mcs.4	+	7	3142	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_uc010jju.2_Missense_Mutation_p.R554Q|CPEB4_uc010jjv.3_Missense_Mutation_p.R562Q|CPEB4_uc011dfg.2_Missense_Mutation_p.R554Q|CPEB4_uc003mcu.4_Missense_Mutation_p.R172Q|CPEB4_uc021yhy.1_Missense_Mutation_p.R145Q	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	579							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428000														29			19		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6190872G>A	uc010qzy.2	-	0	685	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000														16			7		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757899	15757899	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15757899C>T	uc010xok.2	+	3	431	c.381C>T	c.(379-381)ttC>ttT	p.F127F	CYP4F3_uc010xol.2_Silent_p.F127F|CYP4F3_uc002nbj.3_Silent_p.F127F|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.F127F|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	127					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCTACAGCTTCCTGAAGCCCT	0.582000														63			30		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38948707G>A	uc003avz.1	-	6	560	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination						31			17		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3707375	3707375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:3707375G>A	uc001lyh.3	-	28	4925	c.4504C>T	c.(4504-4506)Cct>Tct	p.P1502S	NUP98_uc001lyi.3_Intron|NUP98_uc001lyg.3_Missense_Mutation_p.P467S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1519					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.D1501Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAGTCCAAAGGATCTGCTGTT	0.522000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									52			25		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204091518	204091518	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:204091518C>T	uc001ham.3	+	8	1610	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	SOX13_uc010pqp.2_Silent_p.L338L|SOX13_uc010pqq.2_Silent_p.L206L	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	339	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCCCGAGCCTGCCTCTGGG	0.677000														0			8		0	0	1	0	0
UBE2D4	51619	broad.mit.edu	37	7	43978038	43978038	+	Silent	SNP	C	T	T	rs146582539	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:43978038C>T	uc003tja.2	+	1	130	c.33C>T	c.(31-33)acC>acT	p.T11T	UBE2D4_uc003tjb.2_5'UTR	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 4 (putative) (UBE2D4), mRNA.	11					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						AGGAATTAACCGACTTGCAGA	0.488000														173			47		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153870694	153870694	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:153870694T>A	uc021xgc.1	+	5	1744	c.1460T>A	c.(1459-1461)aTt>aAt	p.I487N	ARHGEF26_uc011bog.1_Missense_Mutation_p.I487N|ARHGEF26_uc011boh.1_Missense_Mutation_p.I487N	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	487	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTCTCCAATATTACAGATGTC	0.378000														4			2		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072047	34072047	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:34072047C>T	uc002hjv.2	-	5	2497	c.2469G>A	c.(2467-2469)aaG>aaA	p.K823K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	823					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCCCCTCCCTTGCTGCCCA	0.632000														10			75		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568937	140568937	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140568937G>A	uc003liw.1	+	1	2043	c.2043G>A	c.(2041-2043)caG>caA	p.Q681Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	682					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGCCCAGGCCGACTTGC	0.701000														157			114		0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49197870	49197870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:49197870C>T	uc002xvl.3	+	8	1331	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	PTPN1_uc010zys.2_Missense_Mutation_p.S313F	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	386					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CAGGCTGCCTCCCCAGCCAAA	0.587000														43			24		0	0	1	0	0
FAM190B	54462	broad.mit.edu	37	10	86131537	86131537	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:86131537C>T	uc010qmd.1	+	1	923	c.729C>T	c.(727-729)tcC>tcT	p.S243S	FAM190B_uc001kdg.1_Silent_p.S243S|FAM190B_uc001kdh.1_Silent_p.S243S			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	243										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						GATCACATTCCTTTAATAGAG	0.378000														23			10		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99575609	99575609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:99575609C>T	uc001vnt.2	-	4	491	c.436G>A	c.(436-438)Gat>Aat	p.D146N	DOCK9_uc001vnw.2_Missense_Mutation_p.D145N|DOCK9_uc021rlw.1_Missense_Mutation_p.D145N|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.D146N|DOCK9_uc010tis.1_Missense_Mutation_p.D145N|DOCK9_uc010tit.1_Missense_Mutation_p.D146N|DOCK9_uc010afu.1_5'UTR	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	146					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGTTTATCCAACTTGACC	0.403000														91			44		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330046	34330046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:34330046G>A	uc021oky.1	+	0	254	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R85Q|HMGB4_uc001bxq.3_Missense_Mutation_p.R11Q	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	85						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGAAGAAACGGAGAAAGCGG	0.502000														49			53		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9909970	9909970	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:9909970C>T	uc003gmc.3	-	8	1064	c.1003_splice	c.e8-1	p.I335_splice	SLC2A9_uc003gmd.3_Splice_Site_p.I306_splice	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	335					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						AGAACCAAATCTGTAATTCAG	0.438000														24			11		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15960018	15960018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:15960018C>T	uc001awx.2	+	3	803	c.590C>T	c.(589-591)cCc>cTc	p.P197L	DDI2_uc001aww.3_Missense_Mutation_p.P197L|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	197					proteolysis		aspartic-type endopeptidase activity	p.P197H(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTGCTGATCCCTTTGACCTT	0.438000														144			211		0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398661	36398661	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:36398661A>C	uc002ocm.3	-	1	146	c.65T>G	c.(64-66)cTc>cGc	p.L22R	TYROBP_uc002ocn.3_Missense_Mutation_p.L22R|TYROBP_uc021uta.1_Intron|TYROBP_uc021utb.1_Intron|TYROBP_uc021utc.1_Intron	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	22					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAGGACGGAGACCTGAGGA	0.597000														16			19		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823304	116823304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116823304C>T	uc004bie.4	-	8	1191	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	AMBP_uc011lxk.2_3'UTR	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	310	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACGCACTTCCCCTTGACAGCA	0.607000														29			16		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943344	2943344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:2943344G>A	uc003ggj.1	-	14	2236	c.2164C>T	c.(2164-2166)Cac>Tac	p.H722Y	NOP14-AS1_uc003ggd.1_Non-coding_Transcript|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Non-coding_Transcript|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggl.3_Missense_Mutation_p.H722Y	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCGCCAGGTGATCCGTGAGG	0.672000														17			8		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485698	100485698	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100485698C>A	uc003uwy.2	+	17	2629	c.2362C>A	c.(2362-2364)Cca>Aca	p.P788T	SRRT_uc010lhl.1_Missense_Mutation_p.P787T|SRRT_uc003uxa.2_Missense_Mutation_p.P783T|SRRT_uc003uwz.2_Missense_Mutation_p.P784T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	788	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTCCCCTACCCACACCAGAC	0.607000														164			4		0.217242	0.217242	1	1	0
SDK1	221935	broad.mit.edu	37	7	4215446	4215446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:4215446C>T	uc003smx.3	+	33	5115	c.4976C>T	c.(4975-4977)tCg>tTg	p.S1659L	SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.S146L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1659	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCTCCACATCGACGATGTGT	0.587000														145			76		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547904	35547904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35547904G>A	uc011dte.1	-	8	1138	c.935C>T	c.(934-936)tCt>tTt	p.S312F	FKBP5_uc003okx.2_Missense_Mutation_p.S312F|FKBP5_uc011dtf.1_Missense_Mutation_p.S133F|FKBP5_uc003oky.2_Missense_Mutation_p.S312F	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	312					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						AAATGATTCAGAAGCTTTCGA	0.443000														47			82		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589735	58589735	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58589735G>A	uc002env.3	-	19	2850	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Nonsense_Mutation_p.Q848*|CNOT1_uc002enx.3_Nonsense_Mutation_p.Q853*|CNOT1_uc002enz.1_Nonsense_Mutation_p.Q282*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	853					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATTCGCTGGAAATAGCTG	0.398000														70			18		0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604400	26604400	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:26604400T>C	uc002has.3	-	2	562	c.75A>G	c.(73-75)aaA>aaG	p.K25K						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		AGGACTCAGGTTTTGACGGCC	0.443000														3			54		0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747685	88747685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:88747685G>A	uc002flj.3	-	1	582	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	172					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGTGCAGCTGCCGGTGCCTG	0.652000														38			77		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577751	14577751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14577751C>T	uc001rbw.3	+	1	1060	c.902C>T	c.(901-903)cCt>cTt	p.P301L	ATF7IP_uc010shs.1_Missense_Mutation_p.P301L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P301L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P301L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P301L|ATF7IP_uc010sht.1_Missense_Mutation_p.P301L|ATF7IP_uc001rby.4_Missense_Mutation_p.P301L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P301L|ATF7IP_uc001rca.3_Missense_Mutation_p.P301L|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	301					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAACCAGTTCCTGAAATTGAC	0.383000														38			18		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202117681	202117682	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:202117681_202117682CC>TT	uc001gxn.2	-	10	2231	c.1135_splice	c.e10+1		PTPN7_uc001gxl.2_3'UTR|PTPN7_uc001gxm.2_3'UTR|PTPN7_uc010ppx.2_3'UTR|PTPN7_uc010ppw.2_3'UTR|PTPN7_uc010ppy.2_Intron	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGACCCACCTTCCCAGGCT	0.644000														6			11		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80735836	80735836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:80735836C>T	uc001szd.3	+	42	5138	c.5132C>T	c.(5131-5133)tCa>tTa	p.S1711L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGAGAAATCATTTGAAGTA	0.333000														7			6		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288563	144288563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:144288563G>A	uc003weq.3	-	6	557	c.454C>T	c.(454-456)Cca>Tca	p.P152S	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	152					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTATAATTGGAAAAGGAGTG	0.448000														57			57		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912691	150912691	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:150912691G>A	uc004fey.1	+	6	1940	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	572					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTAGAAGAGAGGGGTCGGG	0.537000														9			59		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267270	48267270	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:48267270C>T	uc001ngs.1	+	0	615	c.615C>T	c.(613-615)gtC>gtT	p.V205V		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTTTGGGGTCCTCTTAGCAT	0.527000														45			20		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89351844T>C	uc002fmx.1	-	8	1567	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_uc002fmy.1_Missense_Mutation_p.K369R|ANKRD11_uc002fnc.1_Missense_Mutation_p.K369R|ANKRD11_uc002fnb.1_Missense_Mutation_p.K326R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453000														152			3		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046189	73046189	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:73046189C>T	uc001sxa.3	+	15	2658	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	876					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						GGATGAAATTCCATTCCACCA	0.383000														22			8		0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183597	61183597	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:61183597G>A	uc001nrq.3	-	5	1079	c.945C>T	c.(943-945)gcC>gcT	p.A315A	CPSF7_uc001nrp.3_Silent_p.A358A|CPSF7_uc001nrr.3_Silent_p.A306A|CPSF7_uc001nrs.1_Silent_p.A216A	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	315	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTATAGGGGGCAGAGGCCT	0.507000														56			34		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487725	108487725	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:108487725A>C	uc010ywk.2	+	19	3347	c.3265A>C	c.(3265-3267)Aaa>Caa	p.K1089Q	RGPD4_uc002tdu.3_Missense_Mutation_p.K276Q|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1089	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAAATTCTCAAAAACGAGGT	0.403000														159			17		0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93091480	93091480	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:93091480G>A	uc010otf.2	-	13	1534	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	EVI5_uc001dox.3_Silent_p.S497S|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	497	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CATCAGGAAGGGAGTTATTCC	0.343000														20			8		0	0	1	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20490512	20490512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:20490512C>T	uc009vpq.1	-	2	425	c.425G>A	c.(424-426)aGg>aAg	p.R142K		NM_001105572	NP_001099042			Homo sapiens phospholipase A2, group IIC (PLA2G2C), mRNA.											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCCACACCTGGGCTGGCT	0.547000														8			9		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198353814	198353814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:198353814T>C	uc002uui.3	-	8	1264	c.1127A>G	c.(1126-1128)gAg>gGg	p.E376G	HSPD1_uc010zgx.2_Missense_Mutation_p.E367G|HSPD1_uc010fsm.3_Missense_Mutation_p.E187G|HSPD1_uc002uuk.3_Missense_Mutation_p.E376G	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	376					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATCTAACTGCTCAATGATTTC	0.388000														52			5		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129722452	129722452	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:129722452C>T	uc021zfb.1	+	37	5634	c.5529C>T	c.(5527-5529)aaC>aaT	p.N1843N	LAMA2_uc003qbn.3_Silent_p.N1843N|LAMA2_uc003qbo.3_Silent_p.N1843N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1843	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGAAGCCAACCGTCTTGCAG	0.403000														32			14		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698213	48698213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:48698213G>A	uc003cuf.1	-	2	2065	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	CELSR3_uc003cul.3_Missense_Mutation_p.R619C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	619	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCCTGATGCGCAAGGCATAC	0.587000														22			8		0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46899902	46899902	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:46899902C>T	uc003cql.1	-	4	624	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	177	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CATTGGAGTCCTCTTGCCCAG	0.617000														5			75		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347415	31347415	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:31347415G>A	uc001bse.2	-	3	938	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SDC3_uc001bsd.2_Silent_p.F239F	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	297	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGGTCAGGAAGGTCTCTG	0.607000														84			99		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516958	157516958	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157516958G>T	uc009wsm.3	-	2	240	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	FCRL5_uc001fqu.3_Missense_Mutation_p.Q28K|FCRL5_uc010phv.1_Missense_Mutation_p.Q28K|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.Q28K|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	28	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.L27P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGGAGGCTGGAGGAAAATA	0.537000														62			22		1.12875e-08	1.14436e-08	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52359642	52359642	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52359642G>A	uc003xqu.4	-	11	1548	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	483	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.C483S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TATTGGCCTTGATCGTGCTGT	0.468000														182			126		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228279	140228279	+	Missense_Mutation	SNP	G	A	A	rs71588635		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140228279G>A	uc003lhu.2	+	0	923	c.199G>A	c.(199-201)Gat>Aat	p.D67N	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_Missense_Mutation_p.D67N	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	80	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)			GTTCCAGTTGGATTCCAAAGG	0.642000														23			145		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744236	72744236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:72744236G>A	uc003tya.2	+	3	481	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.A112T|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	117	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACCGAACTACGCCTATGGAAC	0.532000														76			35		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:35083353C>T	uc001ziu.1	-	5	1195	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000														19			166		0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549463	28549464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:28549463_28549464CC>TT	uc002dqd.1	-	1	446_447	c.179_180GG>AA	c.(178-180)cgg>cAA	p.R60Q	NPIPL1_uc010vct.2_Intron|NUPR1_uc002dqe.1_Missense_Mutation_p.R42Q	NM_001042483	NP_001035948	O60356	NUPR1_HUMAN	Homo sapiens nuclear protein, transcriptional regulator, 1 (NUPR1), transcript variant 1, mRNA.	42					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TGCGACCTTTCCGGCCTCCACC	0.599000														89			34		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079275	1079275	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:1079275G>A	uc002qwq.3	+	1	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T48T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	48					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468000														9			46		0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103517389	103517389	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:103517389C>T	uc011ceq.2	+	13	1859	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	NFKB1_uc011cep.2_Silent_p.T465T|NFKB1_uc011cer.2_Silent_p.T284T	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	464	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TTATTGAAACCACAGAGCAAG	0.458000														25			27		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190423889	190423889	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:190423889G>A	uc001gse.1	-	1	364	c.132C>T	c.(130-132)ttC>ttT	p.F44F	FAM5C_uc010pot.1_Missense_Mutation_p.S6L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	44						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)					GGAGCCAGTCGAAGGGGCTTG	0.498000														28			28		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136262	30136262	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30136262G>A	uc010jrx.3	+	2	1142	c.663G>A	c.(661-663)aaG>aaA	p.K221K		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	221					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCAGGTCAAGGAGCTGGAGG	0.547000														16			10		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869306	200869306	+	Silent	SNP	C	T	T	rs34596202	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:200869306C>T	uc001gvo.3	+	3	552	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_uc010ppm.2_Silent_p.I85I	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607000														27			31		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33451019	33451019	+	Silent	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:33451019A>T	uc003cfq.4	-	5	1160	c.630T>A	c.(628-630)gtT>gtA	p.V210V	UBP1_uc003cfr.4_Silent_p.V210V|UBP1_uc010hga.3_Silent_p.V210V	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	210					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAAAGGTGTCAACCTGGATCC	0.438000														5			49		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227906890	227906890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:227906890C>T	uc021vxr.1	-	35	3580	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1160E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1160	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTGGTATCCCTGGATCCCC	0.542000														57			5		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437281	76437281	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76437281C>T	uc010dhp.2	-	72	11654	c.11529_splice	c.e72-1	p.K3843_splice	DNAH17_uc002jvq.3_Splice_Site_p.K128_splice|DNAH17_uc002jvs.3_Splice_Site	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)			CCACGAAGTTCCTAGGGGTGG	0.612000														19			20		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196921404	196921404	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:196921404G>A	uc010ial.3	-	4	634	c.375C>T	c.(373-375)atC>atT	p.I125I	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Silent_p.I125I|DLG1_uc003fxn.4_Silent_p.I125I|DLG1_uc011bue.2_Silent_p.I125I|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Silent_p.I125I	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	125					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTTCATTTGTGATTTGTGGGG	0.368000														67			31		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786915	164786915	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:164786915G>A	uc003fei.3	-	3	387	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	108	P-type 1.				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)	GATTATCAACGAAGAAGCACC	0.358000										HNSCC(35;0.089)				42			39		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647696	51647696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51647696G>A	uc002pvv.1	+	1	536	c.467G>A	c.(466-468)gGt>gAt	p.G156D	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	156	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTTATCCCCGGTACCCTGGAG	0.612000														128			96		0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973885	46973885	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:46973885G>A	uc002peq.4	-	1	714	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PNMAL1_uc002per.4_Silent_p.S136S	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	136										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gctggttctgggacagggtgg	0.577000														60			34		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183852941	183852941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:183852941C>T	uc001gqm.3	+	6	1198	c.737C>T	c.(736-738)tCc>tTc	p.S246F	RGL1_uc010pof.1_Missense_Mutation_p.S16F|RGL1_uc010pog.2_Missense_Mutation_p.S209F|RGL1_uc010poh.2_Missense_Mutation_p.S209F|RGL1_uc001gqo.3_Missense_Mutation_p.S211F|RGL1_uc010poi.2_Missense_Mutation_p.S211F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	211	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AACACGATCTCCTTCAGCCTG	0.463000														52			13		0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176863138	176863138	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:176863138C>T	uc021yit.1	+	11	1282	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	GRK6_uc003mgq.2_Silent_p.L374L|GRK6_uc021yiu.1_Silent_p.L374L|GRK6_uc003mgs.1_Silent_p.L344L	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	374	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-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)			TCGGCTGCCTCCTGTACGAGA	0.637000														3			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063255	9063255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9063255G>A	uc002mkp.3	-	2	24395	c.24191C>T	c.(24190-24192)tCc>tTc	p.S8064F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8066	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						TCCAGAACTGGAGGTCCCCAC	0.473000														28			17		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882814	64882814	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64882814G>A	uc001ocv.3	+	5	1581	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TM7SF2_uc001oct.3_Silent_p.A307A|TM7SF2_uc010rny.2_Silent_p.A191A|TM7SF2_uc001ocu.3_Intron|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	307					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCGTGGGGCGAATTCCCAGA	0.572000														105			56		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997860	115997860	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:115997860G>A	uc003ibu.3	-	1	1012	c.333C>T	c.(331-333)gcC>gcT	p.A111A	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	111	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)		CCTTTCCAGGGGCAATAACCA	0.403000														31			13		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676837	137676837	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:137676837G>A	uc004cfe.3	+	29	2869	c.2487G>A	c.(2485-2487)ggG>ggA	p.G829G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTTGCAGGGGGAGATCGGCC	0.637000														32			7		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34854417	34854417	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:34854417C>T	uc002lae.2	-	6	1054	c.658_splice	c.e6-1	p.G220_splice	CELF4_uc021uix.1_Splice_Site_p.G219_splice|CELF4_uc021uiy.1_Splice_Site_p.G220_splice|CELF4_uc002lag.2_Splice_Site_p.G210_splice|CELF4_uc002laf.2_Splice_Site_p.G215_splice|CELF4_uc002lai.2_Splice_Site_p.G205_splice|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.G55E	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	220	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GACGAGGCTCCCTGCGGCCGG	0.711000														90			45		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150165	87150165	+	Silent	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:87150165G>T	uc003uiz.2	-	22	3206	c.2713C>A	c.(2713-2715)Cga>Aga	p.R905R	ABCB1_uc011khc.2_Silent_p.R841R	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)	ACAACGGTTCGGAAGTTTTCT	0.413000														45			7		1.26484e-09	1.2842e-09	1	1	0
F9	2158	broad.mit.edu	37	X	138644072	138644072	+	Missense_Mutation	SNP	G	A	A	rs137852278		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:138644072G>A	uc004fas.1	+	7	1257	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	F9_uc004fat.1_Missense_Mutation_p.D372N	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	410	Peptidase S1.		D -> H (in HEMB; Mechtal).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.D410E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ATGTCAAGGAGATAGTGGGGG	0.443000														2			47		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926923	23926923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:23926923G>A	uc002nrk.4	-	3	1571	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ZNF681_uc002nrl.4_Missense_Mutation_p.P408S|ZNF681_uc002nrj.4_Missense_Mutation_p.P408S	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	477					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)				CATTTGTAGGGTTTCTCTCCA	0.363000														57			27		0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144697044	144697044	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:144697044G>A	uc003yza.2	-	3	339	c.303C>T	c.(301-303)gcC>gcT	p.A101A	TSTA3_uc003yzb.2_Silent_p.A101A|TSTA3_uc011lko.1_Silent_p.A101A	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	101					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCTCAAAGGCCGAGTGCA	0.612000														62			35		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501757	28501757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:28501757C>T	uc003nll.2	+	4	481	c.479C>T	c.(478-480)tCt>tTt	p.S160F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	160					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTCATCCCTCTGAGATTTTG	0.453000														131			53		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112102	76112102	+	Silent	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:76112102G>T	uc011kgk.1	+	2	625	c.273G>T	c.(271-273)gtG>gtT	p.V91V	DTX2_uc003uff.4_Silent_p.V182V|DTX2_uc003ufg.4_Silent_p.V182V|DTX2_uc003ufh.4_Silent_p.V182V|DTX2_uc003ufj.4_Silent_p.V182V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	182	WWE 1.				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						CTTACCCGGTGACCACCATCA	0.652000														27			14		2.31682e-05	2.32852e-05	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96702071	96702071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:96702071C>T	uc001kka.4	+	2	479	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	CYP2C9_uc009xut.3_Missense_Mutation_p.L152F|CYP2C9_uc001kjz.3_Missense_Mutation_p.L152F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	152					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCCCGCTGCCTTGTGGAGGA	0.498000														32			30		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966029	57966029	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:57966029G>A	uc001sor.1	+	13	1756	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	KIF5A_uc010srr.1_Silent_p.V427V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	516					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGCTTCTGGTGGATGAGCTGT	0.567000														3			7		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524059	43524059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:43524059G>A	uc002zag.1	+	8	1381	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	UMODL1_uc002zad.1_Missense_Mutation_p.G389R|UMODL1_uc002zae.1_Missense_Mutation_p.G389R|UMODL1_uc002zaf.1_Missense_Mutation_p.G461R|UMODL1_uc010gow.1_Missense_Mutation_p.G253R|UMODL1_uc002zai.1_Missense_Mutation_p.G112R|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G112R|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G206R|C21orf128_uc002zak.2_Silent_p.S58S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	461	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.T461P(3)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCCAGGCGGGAAGTGTGGT	0.602000														124			116		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448788	10448788	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10448788T>C	uc010coi.3	-	4	508	c.380A>G	c.(379-381)aAc>aGc	p.N127S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.N127S|MYH2_uc010coj.3_Missense_Mutation_p.N127S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	127	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(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						CTTGTAGGGGTTGACAGTGAC	0.473000														7			48		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052767	15052767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15052767C>T	uc010xoc.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTCATGGGTTCCTTGCTTGAG	0.522000														110			75		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183650253	183650253	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:183650253A>C	uc003ivd.1	+	12	2579	c.2504A>C	c.(2503-2505)aAa>aCa	p.K835T	ODZ3_uc003ive.1_Missense_Mutation_p.K241T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	835					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAAGCTGCCAAATCCTTTTAT	0.448000														21			30		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62839353A>G	uc002yii.3	+	6	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000														9			2		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067877	52067877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:52067877C>T	uc001jje.3	-	9	1881	c.927G>A	c.(925-927)tgG>tgA	p.W309*	SGMS1_uc010qhk.2_Nonsense_Mutation_p.W140*	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	315					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCAGCAAATCCAGTGATACC	0.483000														28			17		0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172816	38172816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:38172816G>A	uc002htp.3	+	3	505	c.391G>A	c.(391-393)Gag>Aag	p.E131K	CSF3_uc002hto.3_Missense_Mutation_p.E128K|CSF3_uc002htq.3_Missense_Mutation_p.E124K|CSF3_uc021tww.1_Missense_Mutation_p.E92K|CSF3_uc021twx.1_Missense_Mutation_p.E95K|CSF3_uc010wep.2_Missense_Mutation_p.E88K	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	131					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATCTCCCCCGAGTTGGGTCC	0.627000														24			129		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132643979	132643979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:132643979G>A	uc003qdf.3	-	7	1243	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	MOXD1_uc003qde.3_Missense_Mutation_p.H314Y	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	382					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCAAACACATGAATTCCACTT	0.463000														2			23		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516968	53516968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:53516968C>T	uc001sbv.3	+	12	1428	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	447					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TTCTTCTATCCCGTCATGCTG	0.587000														52			21		0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375960	83375960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83375960G>A	uc003hmv.3	+	3	732	c.475G>A	c.(475-477)Gca>Aca	p.A159T	ENOPH1_uc003hmx.3_Missense_Mutation_p.A13T	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	159					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GAGTGTGGAGGCACAGAAACT	0.443000														80			128		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813710	100813710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:100813710C>T	uc010svi.2	+	11	1856	c.1543C>T	c.(1543-1545)Ctc>Ttc	p.L515F	SLC17A8_uc009ztx.3_Missense_Mutation_p.L465F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	515					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.L515V(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCCAGAGAATCTCTCTGAGGA	0.468000														29			14		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102271687	102271687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:102271687C>T	uc001duf.2	-	4	775	c.704G>A	c.(703-705)gGa>gAa	p.G235E	OLFM3_uc001dug.2_Missense_Mutation_p.G215E|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.G140E|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	235	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAATCGGGTTCCAGATGTCTT	0.423000														48			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086477	75086477	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:75086477T>A	uc001dgg.3	-	7	1160	c.941A>T	c.(940-942)tAt>tTt	p.Y314F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.Y108F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	314										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						GTGCTGCTGATAAACTTTAAT	0.363000														33			31		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464043	50464043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50464043C>T	uc010ybh.2	-	1	317	c.226G>A	c.(226-228)Gga>Aga	p.G76R	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G76R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	76	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGGTCCGTCCTTTGAACCAG	0.607000														43			20		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515173	56515173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:56515173G>A	uc001sjp.1	+	2	1016	c.827G>A	c.(826-828)cGc>cAc	p.R276H	ZC3H10_uc021qyw.1_Missense_Mutation_p.R276H	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	276							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGTTCCGCAATCAGGCC	0.537000														66			3		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732064	30732065	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30732064_30732065CC>TT	uc002dze.1	+	19	3403_3404	c.3018_3019CC>TT	c.(3016-3021)ggccgg>ggTTgg	p.R1007W	SRCAP_uc021tgn.1_Missense_Mutation_p.R1007W|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R864W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1007	Pro-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	p.R1007W(2)		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)			AGCAAGAAGGCCGGACAGTGGT	0.569000														107			50		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196544	133196544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133196544C>T	uc003ytj.3	-	2	773	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	KCNQ3_uc003yti.3_Missense_Mutation_p.R63Q|KCNQ3_uc010mdt.3_Missense_Mutation_p.R183Q	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	183					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)			GCCTTTGTATCGGCAGCAACA	0.547000														88			51		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414206	61414206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:61414206G>A	uc010qig.1	-	4	1027	c.578C>T	c.(577-579)tCt>tTt	p.S193F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	193					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACAATCAGAAGATTGGAGGGG	0.388000														50			6		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88939578	88939578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:88939578C>T	uc001tav.3	-	1	275	c.80G>A	c.(79-81)gGg>gAg	p.G27E	KITLG_uc001taw.3_Missense_Mutation_p.G27E	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	27					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCTGCAGATCCCTTCAGTTTT	0.378000									Testicular Cancer, Familial Clustering of					15			7		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36064993	36064993	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:36064993T>C	uc001wtj.3	-	35	5929	c.5538A>G	c.(5536-5538)gtA>gtG	p.V1846V	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Silent_p.V1846V|RALGAPA1_uc010tpv.2_Silent_p.V1859V|RALGAPA1_uc010tpw.1_Silent_p.V1893V	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1846	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTAAGATTTACCTAGAAGT	0.328000														3			10		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61643878	61643878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:61643878G>A	uc001nsm.3	-	8	1186	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	345					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTCCTTGGGGATGTGGTTC	0.652000														88			24		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917094	32917094	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32917094G>A	uc003ocm.2	-	3	821	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	245						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						CAATGCCCACGATGATGCCCA	0.587000														50			49		0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141993609	141993609	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:141993609G>A	uc003lmm.3	-	1	164	c.84C>T	c.(82-84)ctC>ctT	p.L28L	FGF1_uc011dbi.2_Silent_p.L28L|FGF1_uc003lmn.4_Silent_p.L28L|FGF1_uc003lmp.4_Silent_p.L28L|FGF1_uc003lmq.3_Silent_p.L28L|FGF1_uc010jgj.3_Silent_p.L28L|FGF1_uc003lmr.3_Silent_p.L28L|FGF1_uc003lms.4_Silent_p.L28L|FGF1_uc021yew.1_Silent_p.L28L	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	28					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TACAGTAGAGGAGTTTGGGCT	0.557000														11			33		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861097	52861097	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:52861097A>C	uc003gzi.3	-	3	2098	c.2091T>G	c.(2089-2091)tgT>tgG	p.C697W		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	697						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTCCAACTCACAGCAAGTGT	0.522000														71			26		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227604	11227604	+	Missense_Mutation	SNP	G	A	A	rs137929307		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11227604G>A	uc002mqk.4	+	11	1962	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	LDLR_uc010xlk.2_Missense_Mutation_p.G592E|LDLR_uc010xll.2_Missense_Mutation_p.G551E|LDLR_uc021upc.1_Missense_Mutation_p.G471E|LDLR_uc010xln.2_Missense_Mutation_p.G465E|LDLR_uc010xlo.2_Missense_Mutation_p.G424E|LDLR_uc010xlm.2_Missense_Mutation_p.G445E|LDLR_uc021upd.1_Missense_Mutation_p.G329E	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	592			G -> E (in FH; Sicily).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GATGTCAACGGGGGCAACCGG	0.537000														128			79		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75315533	75315533	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:75315533G>A	uc004aiz.1	+	7	876	c.336G>A	c.(334-336)aaG>aaA	p.K112K	TMC1_uc010moz.1_Intron|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Intron|TMC1_uc004ajc.1_Intron|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	112	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AACCATGGAAGATGGAGAAGA	0.333000														16			16		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150416638	150416638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:150416638G>A	uc003eyg.3	-	2	550	c.493C>T	c.(493-495)Cca>Tca	p.P165S	FAM194A_uc003eyh.3_Missense_Mutation_p.P19S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	165										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTGATACTGGAATTCCTGGA	0.368000														112			81		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661186	9661186	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:9661186C>T	uc021ofy.1	+	4	687	c.630C>T	c.(628-630)tcC>tcT	p.S210S	TMEM201_uc001apy.3_Silent_p.S210S|TMEM201_uc021ofz.1_Silent_p.S51S	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	210						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)		CCGTGAAGTCCCCGGTCCAGG	0.657000														83			76		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002537	98002537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:98002537C>T	uc003dsj.1	+	0	806	c.806C>T	c.(805-807)tCt>tTt	p.S269F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	269					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						CGCCCTGCATCTCCACAAGCA	0.393000														30			24		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	G	G	rs149119138	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				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	p.L149R(18)|p.R148S(1)		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)		GTCCTGCGTCTGAGAGGTGGT	0.542000														70			4		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958432	90958432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:90958432G>A	uc003yej.1	-	12	2116	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	NBN_uc011lgb.1_Missense_Mutation_p.S669F|NBN_uc003yei.1_Missense_Mutation_p.S587F	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	669					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGATTTCTGGAAGTAGAGTT	0.328000								Homologous recombination						37			21		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2422097	2422097	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:2422097G>A	uc010xgx.2	+	12	2298	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	766					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCCGGGGGCCACACCCA	0.657000														54			33		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729922	41729922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:41729922C>T	uc003thq.3	-	1	842	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	INHBA_uc003thr.3_Missense_Mutation_p.E203K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	203					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCAACAGTTCACTCCTCTCC	0.582000										TSP Lung(11;0.080)				29			17		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869920	89869920	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:89869920G>A	uc002bns.4	-	8	1917	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	POLG_uc002bnr.4_Silent_p.A545A	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	545					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAGGCGCGGGCCATGACAT	0.617000								DNA polymerases (catalytic subunits)						9			30		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548864	17548864	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:17548864G>A	uc001mnf.3	-	4	511	c.402C>T	c.(400-402)atC>atT	p.I134I	USH1C_uc001mne.3_Silent_p.I134I|USH1C_uc009yhb.3_Silent_p.I134I|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.I98I	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	134	PDZ 1.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGATCCGGACGATCTCGTCCC	0.552000														54			19		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113705054	113705054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:113705054G>A	uc001poh.3	-	5	571	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	USP28_uc010rwy.2_Missense_Mutation_p.L55F|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.L180F|USP28_uc010rwz.1_Missense_Mutation_p.L180F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	180					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTGAAAGAGAGACTGAAAT	0.318000														3			6		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903571	5903571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:5903571G>A	uc002wmg.3	+	3	1087	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	261						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						CCGAAGCCAGGAAGAATCTGA	0.597000														8			13		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832760	130832760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:130832760C>T	uc010fmh.2	-	16	2685	c.2285G>A	c.(2284-2286)aGa>aAa	p.R762K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	762	Actin-like.					cell cortex	ATP binding	p.K761K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGGATGCCTCTTTTGCTCTG	0.577000														26			99		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109231	118109231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:118109231G>A	uc004eqw.3	+	0	519	c.488G>A	c.(487-489)gGg>gAg	p.G163E	LONRF3_uc004eqx.3_Missense_Mutation_p.G163E|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	163					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AAATGTCATGGGTTTCTATCA	0.672000														2			15		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80772794	80772794	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:80772794G>A	uc002kfy.1	+	12	1432	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	TBCD_uc002kfx.1_Silent_p.P417P|TBCD_uc002kfz.3_Silent_p.P434P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	434					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGTTGCTGCCGTCTCGACTCG	0.627000														27			3		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1251274	1251274	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1251274G>A	uc001lta.3	+	10	1319	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.P420P	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	420					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACCTGCCGTGCCCTGGCA	0.657000														23			21		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995165	4995166	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:4995165_4995166CC>TT	uc002gaq.3	+	1	491_492	c.366_367CC>TT	c.(364-369)ttccta>ttTTta	p.122_123FL>FL	ZFP3_uc021tog.1_Silent_p.122_123FL>FL	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GCCAAAACTTCCTAGAGATTTT	0.431000														35			11		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9248140	9248140	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:9248140G>A	uc001qvk.1	-	15	2121	c.2008C>T	c.(2008-2010)Cta>Tta	p.L670L	A2M_uc009zgk.1_Silent_p.L520L	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	670					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTACCTCTAGGAAGCTGTAC	0.353000														7			14		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775153	38775153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:38775153C>T	uc003gtj.3	-	3	2697	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	TLR10_uc021xnk.1_Missense_Mutation_p.E673K|TLR10_uc003gti.3_Missense_Mutation_p.E687K|TLR10_uc021xnl.1_Missense_Mutation_p.E687K|TLR10_uc003gtk.3_Missense_Mutation_p.E687K|TLR10_uc021xnm.1_Missense_Mutation_p.E687K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	687	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TAGCTTTTCTCAATGAAGCTT	0.388000														35			64		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361854	62361854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:62361854G>A	uc001ntq.2	-	16	2108	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.S400F	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	573					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCATTGGCAGAGAAAGGAAC	0.557000														13			11		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914898	31914898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31914898G>A	uc003nyj.4	+	2	691	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CFB_uc011dor.2_Missense_Mutation_p.R640Q|CFB_uc003nyi.2_Missense_Mutation_p.R138Q	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACACTCTCCGGGGCTCTGCC	0.562000														185			4		0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48072097	48072097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:48072097C>T	uc002ipy.3	-	0	492	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	89						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTAGGAGGCTCCGTAGGTATA	0.622000														49			5		0	0	1	0	0
SNORD113-9	767569	broad.mit.edu	37	14	101412008	101412008	+	RNA	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:101412008G>A	uc001yiq.3	+	0		c.23G>A								Homo sapiens small nucleolar RNA, C/D box 113-9 (SNORD113-9), small nucleolar RNA.																		GAGTACCCTGGGGTGTCTGAA	0.338000														9			33		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18149956	18149956	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:18149956G>A	uc002gsr.1	-	22	3054	c.3003C>T	c.(3001-3003)acC>acT	p.T1001T	FLII_uc002gsq.1_Silent_p.T872T|FLII_uc010vxn.1_Silent_p.T970T|FLII_uc010vxo.1_Silent_p.T946T|FLII_uc002gss.1_Silent_p.T1000T	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	1001					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCAGGCTGAAGGTGAAGGTGA	0.637000														15			17		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43843289	43843289	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:43843289G>T	uc010kxv.3	+	7	652	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	BLVRA_uc003tir.3_Nonsense_Mutation_p.E159*	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	159					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CCCGTTGGAAGAAGAGCGGTT	0.587000														305			127		2.65394e-64	2.73645e-64	1	1	0
DSC2	1824	broad.mit.edu	37	18	28662324	28662324	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:28662324C>A	uc002kwl.4	-	8	1597	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	DSC2_uc002kwk.4_Missense_Mutation_p.K381N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	381	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318000														26			17		1.55795e-14	1.59224e-14	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103048371	103048371	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:103048371G>A	uc001phn.1	+	37	6105	c.5961G>A	c.(5959-5961)acG>acA	p.T1987T	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.T1987T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1987	AAA 2 (By similarity).		T -> A (in SRPS3).		Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAAATCAACGCTTTGGAGAA	0.393000														9			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673492	196673492	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:196673492G>A	uc002utj.4	-	52	10098	c.9997C>T	c.(9997-9999)Cga>Tga	p.R3333*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3333					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3333Q(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCTAATCGACATATTTCA	0.408000														17			56		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537122	118537122	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:118537122G>A	uc001ehk.2	-	34	5153	c.5085C>T	c.(5083-5085)ttC>ttT	p.F1695F	SPAG17_uc021osr.1_Silent_p.F205F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1695						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)		ATGCTTCATGGAAAGGGCGAA	0.428000														26			14		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982823	30982823	+	Silent	SNP	C	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30982823C>G	uc002ead.1	+	12	3827	c.3141C>G	c.(3139-3141)tcC>tcG	p.S1047S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1047	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cctcctcctcctcgtcctcat	0.572000														56			3		0	0	1	0	0
PRAMEF16	654348	broad.mit.edu	37	1	13497634	13497634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:13497634G>A	uc001aux.3	+	2	961	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN	Homo sapiens PRAME family member 16 (PRAMEF16), mRNA.	311												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGACATGGAGTGTCTGTC	0.483000														82			23		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675545	43675545	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:43675545G>C	uc021omk.1	+	10	2033	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.K618N|WDR65_uc001ciq.2_Missense_Mutation_p.K629N|WDR65_uc001cip.2_Missense_Mutation_p.K629N	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	629										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)				CTCTGCAGAAGGAATTCAATG	0.577000														57			21		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981615	44981615	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:44981615G>A	uc002ozf.4	-	4	1365	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	ZNF180_uc002ozh.4_Silent_p.S18S|ZNF180_uc002ozi.4_Silent_p.S334S|ZNF180_uc002ozg.4_Silent_p.S360S|ZNF180_uc010ejm.3_Silent_p.S336S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGCTGAAGGATTTCCCAC	0.413000														58			36		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798296	113798296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:113798296G>A	uc001vsx.3	+	5	691	c.634G>A	c.(634-636)Gag>Aag	p.E212K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E212K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	212					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACCCCACCGAGAACCCCTT	0.627000														84			32		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124592	48124592	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:48124592G>A	uc002xut.3	-	9	1422	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	PTGIS_uc010zyi.2_Silent_p.F317F	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	456					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCAGCACAAGGAACACAAATC	0.562000														86			18		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019934	20019934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:20019934C>T	uc001vwc.3	-	0	339	c.287G>A	c.(286-288)aGc>aAc	p.S96N	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	96										endometrium(4)|kidney(1)|lung(4)	9						GCCCATCTTGCTCCTGAGTGT	0.622000														215			17		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595523	36595523	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36595523G>A	uc021qgb.1	+	0	669	c.669G>A	c.(667-669)agG>agA	p.R223R	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.R223R	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	223	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTCAAGAGGAAGAGTCTTC	0.537000									Familial Hemophagocytic Lymphohistiocytosis					34			15		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902257	40902257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40902257G>A	uc002onr.3	-	6	2271	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	PRX_uc002onq.3_Missense_Mutation_p.P529S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	668	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCATTTTAGGGAGTTTCATC	0.572000														75			55		0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957830	101957830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:101957830G>A	uc011kko.2	+	5	1276	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	455					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGGGGAGTACGTGCTGACCTT	0.657000														48			8		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557855	10557855	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:10557855G>A	uc003wtd.1	+	3	788	c.759G>A	c.(757-759)caG>caA	p.Q253Q	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	253								p.Q253H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGAAGCTTCAGAAGAAGACTC	0.612000														76			29		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69120344	69120344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:69120344C>T	uc001suf.3	+	18	1757	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	NUP107_uc001sug.3_Missense_Mutation_p.R395C|NUP107_uc010stj.2_Missense_Mutation_p.R519C	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	548					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACACCTGCTTCGCTTTATGAC	0.378000														38			29		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594481	41594481	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:41594481G>A	uc002opt.3	+	0	114	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	35					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGCTGCCTCCGGGACCCACCC	0.582000														54			40		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122000994	122000994	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:122000994G>T	uc004bkc.2	-	4	1080	c.624C>A	c.(622-624)gaC>gaA	p.D208E	DBC1_uc004bkd.2_Missense_Mutation_p.D208E	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	208	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGTCCAGATTGTCATAGCTGT	0.502000														37			13		6.94344e-10	7.05486e-10	1	1	0
EPYC	1833	broad.mit.edu	37	12	91372011	91372011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:91372011C>T	uc001tbk.3	-	2	287	c.194G>A	c.(193-195)gGg>gAg	p.G65E		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	65					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.G65E(2)|p.G65W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCTCTGTTCCCTGAAGGCAT	0.483000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			11		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982674	7982674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7982674G>A	uc001mfv.1	-	1	502	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	162							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)		GGCCAGTGAGGGCTTTTCCCC	0.577000														16			13		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209938	10209938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10209938C>T	uc002gmk.1	-	36	5394	c.5304G>A	c.(5302-5304)atG>atA	p.M1768I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1768					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCAGCCATCATGGCAGCCT	0.582000														3			43		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882158	64882158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:64882158C>T	uc001xhb.3	+	4	710	c.323C>T	c.(322-324)tCc>tTc	p.S108F	MTHFD1_uc010aqe.2_Missense_Mutation_p.S144F|MTHFD1_uc010aqf.3_Missense_Mutation_p.S164F	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	108	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCAGAGAATTCCATTAACACT	0.388000														15			143		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423987	77423987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:77423987G>A	uc001sym.4	-	9	1744	c.1508C>T	c.(1507-1509)tCt>tTt	p.S503F	E2F7_uc009zse.3_5'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	503					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGAGCAACAGAAAATACTGG	0.522000														64			51		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301315	18301315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:18301315G>A	uc002zng.4	-	25	4465	c.4112C>T	c.(4111-4113)tCc>tTc	p.S1371F	MICAL3_uc011agl.2_Missense_Mutation_p.S1287F|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1371	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATCCTGGGGGGACTTTTCAAC	0.637000														151			116		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026648	37026648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:37026648G>A	uc004ddl.2	+	0	217	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	55								p.G54V(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGGGCATGGACGACTTCC	0.557000														2			21		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699085	17699085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:17699085C>T	uc002rcl.1	-	0	622	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E191K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	200										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATTTAGTTTCCTTGTAAAAG	0.299000														46			4		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703395	107703396	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:107703395_107703396GG>AA	uc010ljo.1	-	22	3189_3190	c.3105_3106CC>TT	c.(3103-3108)ccccct>ccTTct	p.P1036S	LAMB4_uc003vey.2_Missense_Mutation_p.P1036S|LAMB4_uc010ljp.1_Missense_Mutation_p.P5S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1036	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCCCACCAGGGGGACACTCCA	0.535000														41			21		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89811436	89811436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89811436C>T	uc002fou.1	-	35	3599	c.3557G>A	c.(3556-3558)aGg>aAg	p.R1186K	FANCA_uc010vpn.1_Missense_Mutation_p.R1186K|FANCA_uc010vpo.2_Missense_Mutation_p.R272K	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1186					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAGTGTCTCCTCCACCGGCA	0.637000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					21			7		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671757	8671757	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:8671757G>A	uc001qun.3	+	4	577	c.384_splice	c.e4+1	p.Q128_splice		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	128	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGCTGAGCAGGTGTGTTGGGA	0.473000														32			13		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810880	50810881	+	Silent	DNP	CC	TT	TT	rs112599056	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:50810880_50810881CC>TT	uc003pag.3	+	6	1324_1325	c.1158_1159CC>TT	c.(1156-1161)atcctg>atTTtg	p.386_387IL>IL		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	386				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCAGCCCCATCCTGGAGCCGGG	0.634000														71			74		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244627	56244627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56244627C>T	uc002qly.3	-	1	598	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	190	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGATACCGTTCATTTCACAGA	0.453000														17			5		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12887399C>T	uc001auk.2	-	2	654	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000														313			81		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1576333	1576333	+	RNA	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:1576333C>T	uc011cmd.1	-	1		c.396G>A			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		GTGACTCCTTCCGCGCCTCTG	0.642000														4			23		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74983964	74983964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:74983964C>T	uc001owe.2	-	11	1197	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	ARRB1_uc001owf.2_Missense_Mutation_p.V325M	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	325	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						ACCAGCTTCACTTTCACTTTG	0.622000														39			20		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102265162	102265162	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:102265162T>A	uc001krc.1	-	9	1237	c.1135A>T	c.(1135-1137)Aaa>Taa	p.K379*	SEC31B_uc010qpo.1_Nonsense_Mutation_p.K378*|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	379					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTGGGGGGTTTTTTCAGGGGA	0.507000														138			113		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987431	154987431	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:154987431C>A	uc001fgj.4	+	4	682	c.397C>A	c.(397-399)Cta>Ata	p.L133I	ZBTB7B_uc009wpa.3_Missense_Mutation_p.L99I|ZBTB7B_uc001fgk.4_Missense_Mutation_p.L99I|ZBTB7B_uc010peq.2_Missense_Mutation_p.L133I|ZBTB7B_uc001fgl.4_Missense_Mutation_p.L99I	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	99					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGAGGCACTAGGCGCCCT	0.672000														16			18		2.4624e-09	2.49827e-09	1	1	0
RAG1	5896	broad.mit.edu	37	11	36595792	36595792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36595792G>A	uc021qgb.1	+	0	938	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.C313Y	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	313					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATGTCTTTTGCCGGGTCTGC	0.517000									Familial Hemophagocytic Lymphohistiocytosis					28			21		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841663	100841663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:100841663C>T	uc003pqj.4	-	9	1737	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_uc021zdg.1_Missense_Mutation_p.D424N|SIM1_uc010kcu.3_Missense_Mutation_p.D424N	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	424	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D424N(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCCTATCGGCGGGGTCC	0.597000														7			44		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944839	117944839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:117944839C>T	uc001ehd.1	+	1	1055	c.334C>T	c.(334-336)Cga>Tga	p.R112*	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	112					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)		AAATAAAATTCGAGCTGATCA	0.348000														28			20		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140542	39140542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:39140542G>A	uc004abi.3	-	11	2089	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L	CNTNAP3_uc004abj.3_Missense_Mutation_p.P617L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.P617L|CNTNAP3_uc011lqs.1_Missense_Mutation_p.P524L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	617	Fibrinogen C-terminal.				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)		CACAAGAAATGGTCCCAGGGG	0.443000														9			32		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262843	127262844	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:127262843_127262844GG>AA	uc004boo.1	-	3	582_583	c.395_396CC>TT	c.(394-396)ccc>cTT	p.P132L	NR5A1_uc022bnh.1_Missense_Mutation_p.P132L	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	132					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GTGCGGGAGGGGGCGGCGGGGG	0.698000														28			10		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201627	248201627	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248201627T>C	uc001idw.3	+	0	154	c.58T>C	c.(58-60)Tca>Cca	p.S20P	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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)			GTTCCCACAATCAAGAATTGG	0.378000														85			69		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364624	62364624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62364624C>T	uc002ygk.3	+	2	827	c.638C>T	c.(637-639)cCa>cTa	p.P213L	ZGPAT_uc002ygi.2_Missense_Mutation_p.P213L|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.P213L|ZGPAT_uc002ygm.3_Missense_Mutation_p.P213L|ZGPAT_uc002ygj.2_Missense_Mutation_p.P213L|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	213					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TTCCAGGACCCAGACCTGAGC	0.677000														35			30		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:2464182A>G	uc002wge.1	-	5	1913	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(4)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527000														106			3		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31115691	31115691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:31115691C>T	uc009yjk.1	-	3	437	c.368G>A	c.(367-369)gGa>gAa	p.G123E	DCDC5_uc009yjl.1_Missense_Mutation_p.G51E|DCDC5_uc001msu.2_Missense_Mutation_p.G294E	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ACTCCACTTTCCAATGGAAAC	0.448000														26			16		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517678	79517678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79517678G>A	uc002kaq.3	-	2	915	c.842C>T	c.(841-843)cCc>cTc	p.P281L	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P130L	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	281					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAAGATGACGGGCTCCTCCAG	0.587000														3			44		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99462528	99462528	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:99462528G>A	uc001vnt.2	-	46	5206	c.5151C>T	c.(5149-5151)ctC>ctT	p.L1717L	DOCK9_uc001vnw.2_Silent_p.L1716L|DOCK9_uc021rlw.1_Silent_p.L1716L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.L1694L|DOCK9_uc001vnq.2_Silent_p.L266L|DOCK9_uc001vnr.2_Silent_p.L360L|DOCK9_uc010tin.1_Silent_p.L337L|DOCK9_uc001vns.2_Silent_p.L266L|DOCK9_uc010tio.1_Silent_p.L386L|DOCK9_uc010tip.1_Silent_p.L427L|DOCK9_uc001vnu.1_Silent_p.L266L|DOCK9_uc010tiq.1_Silent_p.L672L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1717	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCTCAAGGAGCTCCATCA	0.522000														68			73		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597332	55597332	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:55597332C>T	uc002qis.4	+	14	1613	c.1509C>T	c.(1507-1509)gaC>gaT	p.D503D	EPS8L1_uc010ess.1_Silent_p.D517D|EPS8L1_uc010yfr.2_Silent_p.D439D|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Silent_p.D376D|EPS8L1_uc002qiv.3_Silent_p.D181D|EPS8L1_uc002qiw.3_Silent_p.D282D	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	503	SH3.					cytoplasm		p.R502W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCAGCGGGACGTACTGGAGG	0.577000														21			12		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906455	164906455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:164906455C>T	uc003fej.4	-	1	2608	c.2164G>A	c.(2164-2166)Ggt>Agt	p.G722S	SLITRK3_uc003fek.3_Missense_Mutation_p.G722S|SLITRK3_uc021xgy.1_Missense_Mutation_p.G722S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	722	Poly-Gly.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTCGaccaccacccccactt	0.572000										HNSCC(40;0.11)				34			55		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99770906	99770906	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:99770906G>A	uc001kou.2	-	1	569	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTAC1_uc001kov.3_Silent_p.I71I	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	71						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGCCACGACGATCTCAAAGT	0.493000														54			38		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824344	13824344	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13824344G>A	uc003jfd.2	-	38	6585	c.6543C>T	c.(6541-6543)gtC>gtT	p.V2181V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2181					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTACACGCATGACAATCGTGG	0.443000									Kartagener syndrome					10			46		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17279938	17279938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:17279938G>A	uc001azt.2	+	20	3217	c.3148G>A	c.(3148-3150)Gac>Aac	p.D1050N	CROCC_uc009voz.1_Missense_Mutation_p.D649N|CROCC_uc001azu.2_Missense_Mutation_p.D353N	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1050					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)		GCAGGAGCGCGACGAGGGCCT	0.652000														33			19		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45709580	45709580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:45709580C>T	uc001zve.3	+	5	2060	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	651						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CATCTATATCCCACCTCCAGA	0.383000														20			15		0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47108892	47108892	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:47108892T>C	uc001cqh.3	-	7	871	c.766A>G	c.(766-768)Act>Gct	p.T256A	ATPAF1_uc009vyk.3_Missense_Mutation_p.T105A|ATPAF1_uc010omg.2_Missense_Mutation_p.T168A|ATPAF1_uc001cqi.3_Intron	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATTTCTGCAGTCATCAGCACT	0.433000														40			5		0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35454395	35454395	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35454395G>A	uc003oku.4	-	1	281	c.45C>T	c.(43-45)gcC>gcT	p.A15A	TEAD3_uc010jvx.3_5'UTR	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	15					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CATCCTCCCGGGCCTCCCCGG	0.701000														27			40		0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56671150	56671150	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56671150C>T	uc002qmm.3	+	4	952	c.564C>T	c.(562-564)tcC>tcT	p.S188S	ZNF444_uc002qmn.2_Silent_p.S187S	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	Homo sapiens zinc finger protein 444 (ZNF444), transcript variant 1, mRNA.	188					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCAAAACGTCCCTGAAACCAG	0.716000														8			8		0	0	1	0	0
RNF183	138065	broad.mit.edu	37	9	116060265	116060265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116060265G>A	uc022bmd.1	-	0	200	c.200C>T	c.(199-201)tCa>tTa	p.S67L	RNF183_uc004bgz.3_Missense_Mutation_p.S67L|RNF183_uc004bha.3_Missense_Mutation_p.S67L	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	67						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGGCTGCCCTGAGGCCAGCAC	0.662000														24			26		0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50045894	50045894	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:50045894G>A	uc001ruv.1	-	13	1659	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	FMNL3_uc001ruw.1_Silent_p.V424V|FMNL3_uc001rut.1_Silent_p.V41V|FMNL3_uc001ruu.1_Silent_p.V325V	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	475					actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCAGGCCCCGGACATTTGGCT	0.592000														6			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082600	9082600	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9082600T>C	uc002mkp.3	-	0	9419	c.9215A>G	c.(9214-9216)cAg>cGg	p.Q3072R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3073	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						AGCTGAAGTCTGAAGATGCAC	0.493000														48			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638758	179638758	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179638758G>A	uc021vsy.1	-	30	7362	c.7137C>T	c.(7135-7137)gtC>gtT	p.V2379V	TTN_uc021vsz.1_Silent_p.V2333V|TTN_uc021vta.1_Silent_p.V2333V|TTN_uc021vtb.1_Silent_p.V2333V|TTN_uc002unb.2_Silent_p.V2379V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2379	Ig-like 13.						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)			TTTCCAAGGAGACTTTAACTT	0.468000														7			54		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746297	111746297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:111746297C>T	uc001tsa.2	+	13	1379	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGAAATTCCTTCTGGAGAA	0.617000														6			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065398	9065398	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9065398A>T	uc002mkp.3	-	2	22252	c.22048T>A	c.(22048-22050)Tcc>Acc	p.S7350T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7352	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						ATTACCAAGGAGGGAGTGGTT	0.488000														21			13		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215882781	215882781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:215882781C>T	uc002vew.3	-	13	1953	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K	ABCA12_uc002vev.3_Missense_Mutation_p.R260K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	578					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		gtCAATAGTCCTGTTGGACAT	0.368000														10			35		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573081	53573081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53573081G>A	uc010eqk.3	-	6	1122	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H236Y|ZNF160_uc002qar.4_Missense_Mutation_p.H236Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	236					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTAAGTTCATGATATTTTTTA	0.368000														64			39		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334279	77334279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:77334279G>A	uc002ffc.4	-	16	2974	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L	ADAMTS18_uc010chc.1_Missense_Mutation_p.P440L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P548L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	852	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCTATCCCTGGATTTTTGCC	0.438000														78			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498632	179498632	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179498632C>T	uc021vsy.1	-	179	35115	c.34890G>A	c.(34888-34890)ttG>ttA	p.L11630L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L5325L|TTN_uc021vta.1_Silent_p.L5258L|TTN_uc021vtb.1_Silent_p.L5133L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12557	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D11630E(1)		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)			CTTTCATTTCCAATTTGTGAG	0.398000														64			3		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010182	58010182	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:58010182G>A	uc001spb.3	+	13	1996	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	ARHGEF25_uc009zpy.3_Silent_p.Q551Q|ARHGEF25_uc001spa.3_Silent_p.Q406Q|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	512					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ATCAGGCCCAGGGCAGCACAC	0.602000														43			15		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749155	152749155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152749155C>T	uc010pdv.2	+	0	308	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	103					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGCGGGCTCCAGCTGCTGC	0.642000														41			36		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000982	11000982	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:11000982C>A	uc002daj.4	+	10	1769	c.1636C>A	c.(1636-1638)Ctc>Atc	p.L546I	CIITA_uc002dai.4_Missense_Mutation_p.L545I|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L545I|CIITA_uc002dah.2_Missense_Mutation_p.L497I|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	545	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACCCTCCTCCTCACAGCCCG	0.697000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									19			9		1.61879e-10	1.64837e-10	1	1	0
CHODL	140578	broad.mit.edu	37	21	19629404	19629404	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:19629404G>A	uc002ykv.3	+	2	898	c.507G>A	c.(505-507)agG>agA	p.R169R	CHODL_uc002ykr.3_Silent_p.R128R|CHODL_uc002yks.3_Silent_p.R128R|CHODL_uc021whr.1_Silent_p.R128R|CHODL_uc002ykt.3_Silent_p.R128R|CHODL_uc002yku.3_Silent_p.R128R|CHODL_uc021whs.1_Silent_p.R150R	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	169	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ATGATGACAGGTGTAACATGA	0.403000														88			7		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:21974684G>A	uc003zpk.3	-	0	449	c.143C>T	c.(142-144)cCg>cTg	p.P48L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Missense_Mutation_p.P48L|CDKN2A_uc010miu.3_Missense_Mutation_p.P48L|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(18)|p.P48R(2)|p.V28_V51del(2)|p.P48P(1)|p.0(1)|p.R47fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				27			104		0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20230341	20230341	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:20230341G>A	uc002zrv.3	-	1	516	c.315C>T	c.(313-315)gcC>gcT	p.A105A	RTN4R_uc002zru.3_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	105					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCTCCAGGAGGGCCAGGCCAG	0.647000														83			16		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743450	102743450	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:102743450C>T	uc001krw.2	+	13	2478	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	693					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCTGGCCTCCTCCCTCCTCT	0.647000														13			6		0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525238	141525238	+	Silent	SNP	G	A	A	rs140626835		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:141525238G>A	uc003yvl.3	+	2	490	c.288G>A	c.(286-288)aaG>aaA	p.K96K	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	96					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TATTACCAAAGAAGATTTTAG	0.343000														68			43		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855983	148855983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:148855983C>T	uc003qme.1	+	15	2516	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	SASH1_uc011eeb.1_Missense_Mutation_p.P442S|SASH1_uc003qmf.1_Missense_Mutation_p.P91S	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	681	SAM 1.						protein binding	p.P681Q(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TATCAGGGACCCGGAACACAG	0.483000														9			34		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337762	102337762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:102337762C>T	uc004eju.3	-	7	777	c.706G>A	c.(706-708)Gat>Aat	p.D236N	NXF3_uc010noi.1_Missense_Mutation_p.D86N|NXF3_uc011mrw.1_Missense_Mutation_p.D236N|NXF3_uc011mrx.1_Missense_Mutation_p.D147N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	236						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATCTTAGTATCACGGTTCACC	0.522000														9			63		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:47746434C>T	uc003gxm.3	-	4	877	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000														84			27		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177199087	177199087	+	Silent	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:177199087G>T	uc001glf.3	+	1	387	c.75G>T	c.(73-75)ctG>ctT	p.L25L		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	25						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						TGCTGGCACTGGGCCTGCCTG	0.672000														28			7		5.18039e-06	5.22541e-06	1	1	0
UBE2J2	118424	broad.mit.edu	37	1	1192648	1192648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:1192648G>A	uc001adp.3	-	3	404	c.215C>T	c.(214-216)cCt>cTt	p.P72L	UBE2J2_uc001adm.3_Missense_Mutation_p.P37L|UBE2J2_uc001ado.3_Missense_Mutation_p.P88L|UBE2J2_uc001adq.3_Missense_Mutation_p.P20L|UBE2J2_uc001adr.3_Missense_Mutation_p.P20L	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	72					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGGTTTGAAAGGAAATTCTCT	0.512000														60			13		0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985081	985081	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:985081C>T	uc003gcb.3	-	2	789	c.411G>A	c.(409-411)gtG>gtA	p.V137V	SLC26A1_uc003gbx.3_Silent_p.V137V|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Silent_p.V137V	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	137						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGGTCCACCACCTGCC	0.647000														37			57		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37917218	37917218	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:37917218A>G	uc002ogj.3	-	6	1082	c.150T>C	c.(148-150)gaT>gaC	p.D50D	ZNF569_uc002ogh.3_Intron|ZNF569_uc002ogi.3_Silent_p.D26D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGCAGGATCCAATCTCT	0.393000														40			33		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449926	85449926	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:85449926A>T	uc001tac.3	+	7	1466	c.1355A>T	c.(1354-1356)gAt>gTt	p.D452V	LRRIQ1_uc021rbo.1_Missense_Mutation_p.D330V|LRRIQ1_uc001taa.1_Missense_Mutation_p.D427V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	452										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)		GAAAATGTAGATAGACAGACT	0.299000														14			15		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096387	97096387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:97096387G>A	uc001kkp.3	-	27	3575	c.3530C>T	c.(3529-3531)cCc>cTc	p.P1177L	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Missense_Mutation_p.P1036L|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P1131L|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1177					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGCTTGCCGGGCCGGCTCTC	0.587000														79			51		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797614	76797614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:76797614C>T	uc001jwq.1	-	2	643	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	215						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGCCATCCTCCTCCTCACCG	0.652000														60			40		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612696	53612696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53612696G>A	uc002qax.3	-	6	1095	c.746C>T	c.(745-747)tCa>tTa	p.S249L	ZNF415_uc010yds.2_Missense_Mutation_p.S201L|ZNF415_uc010ydt.2_Missense_Mutation_p.S201L|ZNF415_uc002qau.3_Missense_Mutation_p.S188L|ZNF415_uc002qav.3_Missense_Mutation_p.S213L|ZNF415_uc002qaw.3_Missense_Mutation_p.S201L|ZNF415_uc002qay.3_Missense_Mutation_p.S188L|ZNF415_uc002qaz.3_Missense_Mutation_p.S249L|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTGAGTAATGAAGAACAGAT	0.383000														41			30		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64485121	64485121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:64485121C>T	uc010ssp.1	+	11	1558	c.1502C>T	c.(1501-1503)aCt>aTt	p.T501I	SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	501					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTATAATACTAAGTTGTTT	0.483000														33			21		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371067	48371067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48371067G>A	uc001jex.3	+	1	697	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	ZNF488_uc021ppx.1_Missense_Mutation_p.V179I	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTAACCTCAGTCTTCCCTGC	0.562000														26			24		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734245	12734245	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:12734245A>T	uc004cuz.2	+	14	2173	c.1667A>T	c.(1666-1668)cAa>cTa	p.Q556L	FRMPD4_uc011mij.2_Missense_Mutation_p.Q548L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	556					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTATACCCCAAATGACCACC	0.453000														13			84		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811707	32811707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32811707C>T	uc001utx.3	+	43	6498	c.6002C>T	c.(6001-6003)gCc>gTc	p.A2001V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2001					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)		CCTCGAAGTGCCACACTGGAC	0.547000														32			14		0	0	1	0	0
FAM48A	55578	broad.mit.edu	37	13	37583908	37583908	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:37583908T>C	uc001uwk.3	-	24	2622	c.2374A>G	c.(2374-2376)Agc>Ggc	p.S792G	FAM48A_uc010abt.3_Missense_Mutation_p.S714G|FAM48A_uc001uwg.3_Silent_p.A747A|FAM48A_uc001uwh.3_Missense_Mutation_p.S714G|FAM48A_uc001uwi.3_Missense_Mutation_p.S713G|FAM48A_uc001uwj.3_Missense_Mutation_p.S714G|FAM48A_uc001uwd.3_Missense_Mutation_p.S200G|FAM48A_uc001uwe.3_Silent_p.A231A|FAM48A_uc001uwf.3_Silent_p.A313A	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	713					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GTGCTGCTGCTGCTGCCATAG	0.458000														74			16		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867615	29867615	+	Silent	SNP	T	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:29867615T>A	uc002kxl.3	-	3	1001	c.945A>T	c.(943-945)ggA>ggT	p.G315G	FAM59A_uc002kxk.2_Silent_p.G315G	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	315	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GCCAGCTCTCTCCCTTCACCA	0.537000														33			24		0	0	1	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357818	63357818	+	Silent	SNP	T	C	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:63357818T>C	uc001nxh.2	-	2	564	c.141A>G	c.(139-141)gcA>gcG	p.A47A	PLA2G16_uc001nxi.2_Silent_p.A59A|PLA2G16_uc009you.1_Silent_p.A47A	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	47					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	p.A47T(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5						TGACACTGGCTGCACCAGCTC	0.582000														29			12		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508615	106508615	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:106508615G>A	uc003vdv.4	+	1	694	c.609G>A	c.(607-609)acG>acA	p.T203T	PIK3CG_uc003vdu.3_Silent_p.T203T|PIK3CG_uc003vdw.3_Silent_p.T203T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	203					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						CGTGGGTGACGTCCAAGCCCC	0.617000														125			29		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540402	6540402	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:6540402G>A	uc001iji.1	-	3	681	c.597C>T	c.(595-597)ttC>ttT	p.F199F	PRKCQ_uc001ijj.2_Silent_p.F166F|PRKCQ_uc009xim.2_Silent_p.F166F|PRKCQ_uc009xin.2_Silent_p.F130F|PRKCQ_uc010qax.2_Silent_p.F41F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	166					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCTGTGGGAAGAAGGTGGCAG	0.522000														82			48		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344973	102344973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:102344973G>A	uc001vpb.3	+	7	1273	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	ITGBL1_uc010agb.3_Missense_Mutation_p.G303R|ITGBL1_uc001vpc.4_Missense_Mutation_p.G211R	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	352	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTATCCTCCAGGAGATCGCCG	0.483000														39			24		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101304234	101304234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:101304234G>A	uc004ays.3	-	2	1011	c.551C>T	c.(550-552)cCa>cTa	p.P184L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	184					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGAATGGCTGGATTCACCGC	0.507000														56			3		0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139308107	139308107	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:139308107C>T	uc002tvh.3	+	2	533	c.133C>T	c.(133-135)Cga>Tga	p.R45*		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	45	MATH.		R -> Q (in dbSNP:rs36099753).			nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAGTTTTTGTCGAGAGGAAAT	0.303000														55			4		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123130369	123130369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:123130369C>T	uc003ieh.3	+	15	1853	c.1808C>T	c.(1807-1809)tCt>tTt	p.S603F	KIAA1109_uc003iei.1_Missense_Mutation_p.S357F|KIAA1109_uc010ins.1_Intron|KIAA1109_uc003iej.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	603					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTAAATATTCTTTATTTATG	0.318000														25			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998082	38998082	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:38998082T>G	uc021yzh.1	+	92	14147	c.14038T>G	c.(14038-14040)Ttc>Gtc	p.F4680V	DNAH8_uc003ooe.2_Missense_Mutation_p.F4463V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTGACCTTCATCACTGT	0.478000														84			41		0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:947858G>A	uc002wej.3	-	2	468	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_uc002wek.3_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	123					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647000														79			62		0	0	1	0	0
LOC441454	441454	broad.mit.edu	37	9	99672523	99672523	+	RNA	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:99672523G>A	uc011luq.2	+	0		c.1167G>A								Homo sapiens prothymosin, alpha pseudogene (LOC441454), non-coding RNA.																		agatgaagaaggggaagaaag	0.522000														2			3		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4777018	4777018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:4777018G>A	uc003bqc.3	+	42	5829	c.5479G>A	c.(5479-5481)Gga>Aga	p.G1827R	ITPR1_uc021wsi.1_Missense_Mutation_p.G1794R|ITPR1_uc021wsj.1_Missense_Mutation_p.G1779R|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.	1842					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)		CCTTCTGGAAGGAGGCAACAC	0.547000														8			48		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267006	3267006	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:3267006C>T	uc022aqr.1	-	12	2073	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	562	Sushi 3.					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)		TAACTCTCTCCCCCACCAGCT	0.562000														19			14		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972844	32972844	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32972844G>T	uc001uub.1	+	26	10421	c.10194G>T	c.(10192-10194)caG>caT	p.Q3398H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3398					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)		AGAGTTCCCAGGCCAGTACGG	0.393000			"""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)				37			16		5.03518e-11	5.13095e-11	1	1	0
NAPSA	9476	broad.mit.edu	37	19	50865036	50865036	+	Silent	SNP	A	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50865036A>G	uc002prx.3	-	3	405	c.352T>C	c.(352-354)Tta>Cta	p.L118L	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	118					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGGTGGTGTAACCCTAGGTTA	0.512000														136			9		0	0	1	0	0
LOC643486	643486	broad.mit.edu	37	X	95592418	95592418	+	RNA	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:95592418C>T	uc010nmx.3	-	0		c.484G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		TGCTCTTCTCCATAGCACTTG	0.368000														1			5		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561797	179561797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:179561797G>A	uc010pnp.2	+	1	565	c.47G>A	c.(46-48)aGg>aAg	p.R16K	TDRD5_uc021pfm.1_Missense_Mutation_p.R16K|TDRD5_uc001gnf.2_Missense_Mutation_p.R16K|TDRD5_uc021pfn.1_Missense_Mutation_p.R16K|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	16	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGGAAATAAGGTCACTTCTC	0.493000														162			53		0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55274437	55274437	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:55274437G>A	uc002lgs.2	-	8	1158	c.930C>T	c.(928-930)gcC>gcT	p.A310A	NARS_uc010xea.1_Silent_p.A61A|NARS_uc010xeb.1_Non-coding_Transcript|NARS_uc010xec.2_3'UTR|NARS_uc010xed.2_3'UTR	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	310					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCTCCCAGGGCTGGGAGGC	0.463000														46			36		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7661952	7661952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7661952C>T	uc002giu.1	+	12	2205	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	731	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R731H(1)		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)				CACGGAGTGCCGTATACATGC	0.527000														7			31		0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41349035	41349035	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:41349035C>T	uc010whv.2	+	15	2021	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	NBR1_uc010czd.3_Silent_p.T646T|NBR1_uc010diz.3_Silent_p.T646T|NBR1_uc010whu.2_Silent_p.T646T|NBR1_uc010whw.2_Silent_p.T625T	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	646					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGAGTGGGACCCAGTTTGTGT	0.493000														9			44		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109352090	109352090	+	Missense_Mutation	SNP	C	T	T	rs140279690		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:109352090C>T	uc002tem.4	+	4	634	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	170					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTGAACATCCGGCTAGTGGA	0.433000														191			132		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:116101408C>T	uc002tle.3	+	2	224	c.203C>T	c.(202-204)tCg>tTg	p.S68L	DPP10_uc002tla.2_Missense_Mutation_p.S64L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.S14L|DPP10_uc002tlc.2_Missense_Mutation_p.S60L|DPP10_uc002tlf.2_Missense_Mutation_p.S57L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	64					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCACAAATTCGTCAGAAACC	0.348000														44			5		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453309	226453309	+	Silent	SNP	C	T	T	rs144126698		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:226453309C>T	uc001hqa.2	-	9	1321	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	LIN9_uc001hqb.2_Silent_p.S302S|LIN9_uc001hqc.3_Silent_p.S269S|LIN9_uc009xel.1_Silent_p.S302S	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	321					DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCTCCACGGCGACTGTCCTA	0.313000														48			12		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69318946	69318946	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:69318946G>A	uc002ars.2	+	1	170	c.129G>A	c.(127-129)ggG>ggA	p.G43G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.G25G|NOX5_uc002arp.2_Silent_p.G25G|NOX5_uc010bid.2_Silent_p.G36G|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.G43G	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	43	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGATGGGGAGATCAGCC	0.537000														12			35		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39033567	39033567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:39033567G>A	uc003ooj.4	+	3	424	c.364G>A	c.(364-366)Gac>Aac	p.D122N	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	122					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCCCTGGAGGGACTTGTCGGA	0.642000														17			11		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64663970	64663970	+	Silent	SNP	G	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64663970G>A	uc001obx.3	-	38	5506	c.5391C>T	c.(5389-5391)gcC>gcT	p.A1797A	ATG2A_uc001obw.3_Silent_p.A562A	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1797							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGAGTTCCAGGGCGGCAGAGG	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		12			8		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906432	42906432	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:42906432C>T	uc003cme.3	+	2	616	c.438C>T	c.(436-438)atC>atT	p.I146I	CCBP2_uc003cmf.3_Silent_p.I146I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.I146I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	146					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGGAGATCGTTCATGCTC	0.507000														11			59		0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774978	98774978	+	Silent	SNP	C	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:98774978C>T	uc010msa.2	+	3	1965	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	ERCC6L2_uc011lun.1_Intron			Q5T890	RAD26_HUMAN	RecName: Full=Uncharacterized protein C9orf102;	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CTGTGACATCCCGTTCTCTGA	0.413000														13			16		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	C	C	rs147270843		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:145534121_145534122insC	uc001eoa.3	+	13	1702_1703	c.1626_1627insC	c.(1624-1629)gaacccfs	p.E542fs	ITGA10_uc010oyv.2_Frame_Shift_Ins_p.E411fs|ITGA10_uc009wiw.3_Frame_Shift_Ins_p.E399fs|ITGA10_uc010oyw.2_Frame_Shift_Ins_p.E487fs	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	542					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)					TTCAGCCAGAACCCCCCCAGGA	0.554													---	268	---	---	14	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:11389836_11389837insA	uc002rbd.1	-	3	861_862	c.412_413insT	c.(412-414)tggfs	p.W138fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.W138fs*31(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													---	79	---	---	15	---					
STRN	6801	broad.mit.edu	37	2	37105142	37105144	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:37105142_37105144delAGA	uc002rpn.3	-	9	1222_1224	c.1213_1215delTCT	c.(1213-1215)tctdel	p.S405del	STRN_uc010ezx.3_In_Frame_Del_p.S368del	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	405					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)				ATGACTTTCCAGAAGAAGGAGGA	0.433													---	193	---	---	63	---					
SEC31A	22872	broad.mit.edu	37	4	83795800	83795801	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83795800_83795801insT	uc003hnh.3	-	5	782_783	c.602_603insA	c.(601-603)aatfs	p.N201fs	SEC31A_uc003hne.3_5'Flank|SEC31A_uc011ccl.2_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hnl.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hng.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc011ccm.2_Frame_Shift_Ins_p.N196fs|SEC31A_uc003hni.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hnk.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hnf.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc011ccn.2_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hnm.3_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hnn.2_Frame_Shift_Ins_p.N201fs|SEC31A_uc003hno.3_Frame_Shift_Ins_p.N201fs	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	201	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGATTGGCTCATTTTTTCTAAG	0.411													---	147	---	---	7	---					
NIM1	167359	broad.mit.edu	37	5	43246078	43246078	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:43246078delG	uc003jno.3	+	1	1082	c.201delG	c.(199-201)ctgfs	p.L67fs		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	67							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGATCACGCTGGGGAAACGGA	0.557													---	95	---	---	10	---					
PRRC2A	7916	broad.mit.edu	37	6	31594939	31594939	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31594939delC	uc003nvb.4	+	10	1503	c.1254delC	c.(1252-1254)ggcfs	p.G418fs	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Frame_Shift_Del_p.G418fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	418	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCACCGGGGCCCCGCCGGGA	0.637													---	46	---	---	20	---					
STK38	11329	broad.mit.edu	37	6	36465583	36465583	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:36465583delA	uc003omg.3	-	10	1734	c.1146delT	c.(1144-1146)tttfs	p.F382fs	STK38_uc003omh.3_Frame_Shift_Del_p.F382fs|STK38_uc003omi.3_Frame_Shift_Del_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACGCCTTCAAAAAAAGAGT	0.368													---	70	---	---	15	---					
PHF3	23469	broad.mit.edu	37	6	64423251	64423251	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:64423251delT	uc003pep.1	+	14	5792	c.5767delT	c.(5767-5769)tttfs	p.F1923fs	PHF3_uc003pen.2_Frame_Shift_Del_p.F1835fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.F1192fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1923					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCGCCAGAGATTTTATAGTGA	0.483													---	113	---	---	187	---					
IQCE	23288	broad.mit.edu	37	7	2618122	2618122	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:2618122delG	uc003sml.1	+	7	776	c.592delG	c.(592-594)gttfs	p.V198fs	IQCE_uc010ksm.1_Frame_Shift_Del_p.V198fs|IQCE_uc011jvy.1_Frame_Shift_Del_p.V182fs|IQCE_uc011jvz.1_Frame_Shift_Del_p.V133fs|IQCE_uc003smo.4_Frame_Shift_Del_p.V198fs|IQCE_uc003smk.4_Frame_Shift_Del_p.V182fs|IQCE_uc003smn.4_Frame_Shift_Del_p.V133fs	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	198										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CACGGATTTTGTTCGGACTCT	0.597													---	115	---	---	89	---					
EPHB6	2051	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:142561447_142561448insG	uc011kst.2	+	5	946_947	c.159_160insG	c.(157-162)ccagggfs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Ins_p.P53fs|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.	53						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)					CCTACCCACCAGGGGGGGTGAG	0.574													---	203	---	---	26	---					
ZFHX4	79776	broad.mit.edu	37	8	77617337	77617337	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:77617337delA	uc003yau.2	+	1	1401	c.1014delA	c.(1012-1014)ccafs	p.P338fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.P338fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.P338fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	338						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)			TTCTGGAACCAAAAAAATCCA	0.428										HNSCC(33;0.089)			---	105	---	---	15	---					
FAM75A6	389730	broad.mit.edu	37	9	43627338	43627347	+	Frame_Shift_Del	DEL	ATTTCATTGA	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:43627338_43627347delATTTCATTGA	uc011lrb.2	-	3	1369_1378	c.1340_1349delTCAATGAAAT	c.(1339-1350)ttcaatgaaatgfs	p.F447fs		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	447						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GACATTGGACATTTCATTGAACAAGAAAGG	0.529													---	45	---	---	40	---					
ZEB1	6935	broad.mit.edu	37	10	31608101	31608101	+	Splice_Site	DEL	G	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:31608101delG	uc001ivs.4	+	1	1	c.-62_splice	c.e1-1		ZEB1_uc001ivr.4_Intron|ZEB1_uc010qef.2_Intron|ZEB1_uc009xlh.1_Splice_Site|ZEB1_uc009xli.1_Splice_Site|ZEB1_uc009xlj.1_Splice_Site|ZEB1_uc010qeg.1_Splice_Site|ZEB1_uc009xlk.1_Splice_Site|ZEB1_uc001ivu.4_Splice_Site|ZEB1_uc010qeh.2_Splice_Site|ZEB1_uc001ivv.4_Splice_Site|ZEB1_uc001ivt.4_Splice_Site|ZEB1_uc009xll.2_5'Flank|ZEB1_uc009xlm.1_5'Flank|ZEB1_uc009xln.1_5'Flank|ZEB1_uc009xlo.2_5'Flank|ZEB1_uc009xlp.3_5'Flank|AK296146_uc021pov.1_5'Flank|AK296146_uc010qed.2_5'Flank	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.						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)				gcggaggggtgggggggaagg	0.632													---	4	---	---	2	---					
COL17A1	1308	broad.mit.edu	37	10	105800146	105800147	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:105800146_105800147insG	uc001kxr.3	-	39	2892_2893	c.2723_2724insC	c.(2722-2724)ccafs	p.P908fs		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	908	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)		CAGGTGGGCCTGGGGGGCCGGA	0.540													---	99	---	---	45	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													---	4	---	---	2	---					
ACRBP	84519	broad.mit.edu	37	12	6754500	6754501	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6754500_6754501delCT	uc001qpu.1	-	3	408_409	c.360_361delAG	c.(358-363)agagtcfs	p.R120fs	ACRBP_uc010sfg.1_Frame_Shift_Del_p.R120fs	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	120						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAACACAGGACTCTCTGCAGGA	0.500													---	48	---	---	10	---					
MYO1E	4643	broad.mit.edu	37	15	59466410	59466411	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:59466410_59466411delTC	uc002aga.3	-	19	2450_2451	c.2078_2079delGA	c.(2077-2079)agafs	p.R693fs	MIR2116_uc021smy.1_5'Flank	NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	693					actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CATCATACTTTCTCTCTCTCAT	0.406													---	169	---	---	11	---					
TSC2	7249	broad.mit.edu	37	16	2136326	2136327	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2136326_2136327delGT	uc002con.3	+	36	4901_4902	c.4795_4796delGT	c.(4795-4797)gtgfs	p.V1599fs	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Frame_Shift_Del_p.V1576fs|TSC2_uc002coo.3_Frame_Shift_Del_p.V1532fs|TSC2_uc010uvv.2_Frame_Shift_Del_p.V1496fs|TSC2_uc010uvw.2_Frame_Shift_Del_p.V1484fs|TSC2_uc002cop.3_Frame_Shift_Del_p.V1355fs|TSC2_uc002coq.3_Frame_Shift_Del_p.V374fs	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1599	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGCCTGGACGTGTGTGGTGAG	0.649			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				---	67	---	---	12	---					
FBRS	64319	broad.mit.edu	37	16	30678904	30678904	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30678904delG	uc002dzd.4	+	8	738	c.475delG	c.(475-477)gggfs	p.G159fs	FBRS_uc002dzc.4_Frame_Shift_Del_p.G71fs	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	159								p.G159R(1)|p.G71R(1)		ovary(1)	1			Colorectal(24;0.103)			GGCAGCTCCCGGGGCCCACGG	0.632													---	4	---	---	2	---					
EVPL	2125	broad.mit.edu	37	17	74003457	74003457	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:74003457delC	uc010wss.1	-	21	6123	c.5895delG	c.(5893-5895)gggfs	p.G1965fs	EVPL_uc002jqi.2_Frame_Shift_Del_p.G1943fs|EVPL_uc010wst.1_Frame_Shift_Del_p.G1413fs	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1943	Globular 2.				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						GGTCGATGAGCCCCCCGGTCA	0.667													---	22	---	---	20	---					
C19orf57	79173	broad.mit.edu	37	19	14003610	14003611	+	In_Frame_Ins	INS	-	CCCACT	CCCACT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14003610_14003611insCCCACT	uc002mxl.1	-	4	440_441	c.381_382insAGTGGG	c.(379-384)insAGTGGG	p.127_128insSG	C19orf57_uc002mxk.1_In_Frame_Ins_p.9_10insSG	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	127					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)			AGGCTAAAGGCCCCACTCCCAC	0.540													---	44	---	---	10	---					
NUDT19	390916	broad.mit.edu	37	19	33182995	33182997	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:33182995_33182997delGCT	uc010edf.3	+	0	129_131	c.129_131delGCT	c.(127-132)cggctg>cgg	p.L47del		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	47	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGGGCTTCCGGCTGCTGCTGCTG	0.783													---	4	---	---	2	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:36696948_36696950delCTC	uc003apg.3	-	21	3016_3018	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del	MYH9_uc003aph.1_In_Frame_Del_p.E793del	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	251	---	---	12	---