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
UBE4B	10277	broad.mit.edu	37	1	10221285	10221285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:10221285C>T	uc021ogc.1	+	23	3980	c.3292C>T	c.(3292-3294)Cga>Tga	p.R1098*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.R1047*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.R502*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1047					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R918*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCTCTGAAGCGAATCCATGA	0.493												
NGF	4803	broad.mit.edu	37	1	115828973	115828973	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:115828973G>A	uc021osd.1	-	0	444	c.444C>T	c.(442-444)acC>acT	p.T148T	NGF_uc001efu.1_Silent_p.T148T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	148					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCTGTGGCGGTGGTCTTAT	0.527												
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592												
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152128025_152128028delTGTC	uc001ezs.1	-	2	1612_1615	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.R516fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	516	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.500												
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	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)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis			
SPTA1	6708	broad.mit.edu	37	1	158604390	158604390	+	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:158604390A>C	uc001fst.1	-	38	5707	c.5508T>G	c.(5506-5508)aaT>aaG	p.N1836K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1836			N -> S (in dbSNP:rs16830483).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTCTTTTCATTGATCCAAG	0.418												
REN	5972	broad.mit.edu	37	1	204129738	204129738	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:204129738G>A	uc001haq.2	-	3	486	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	148					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTTGAATAGCGGAGGGTGAGT	0.562												
RASSF5	83593	broad.mit.edu	37	1	206760184	206760184	+	Silent	SNP	T	T	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:206760184T>G	uc001hed.3	+	5	1188	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.3_3'UTR|RASSF5_uc001hef.3_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	377	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCCTGAACTTCAGAACTTCC	0.458												
IRF6	3664	broad.mit.edu	37	1	209963984	209963984	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:209963984C>T	uc001hhq.2	-	6	1220	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	IRF6_uc010psm.2_Missense_Mutation_p.V211I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	306					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGACCGCTGACCTCCAGGATC	0.532										HNSCC(57;0.16)		
OR2T12	127064	broad.mit.edu	37	1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:248458187G>A	uc010pzj.2	-	0	694	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522												
ADARB2	105	broad.mit.edu	37	10	1263025	1263025	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:1263025G>A	uc009xhq.3	-	6	1874	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	516	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCAGGTGCCCGCGGAACTTCC	0.657												
HPSE2	60495	broad.mit.edu	37	10	100249866	100249866	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:100249866G>T	uc001kpn.2	-	9	1481	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T	HPSE2_uc009xwc.2_Missense_Mutation_p.P470T|HPSE2_uc001kpo.2_Missense_Mutation_p.P412T|HPSE2_uc009xwd.2_Missense_Mutation_p.P358T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	470					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)		ACTCGGCCAGGCCGTGGCTTC	0.562												
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537												
TPH1	7166	broad.mit.edu	37	11	18047154	18047154	+	Missense_Mutation	SNP	C	C	T	rs145855109	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:18047154C>T	uc001mnp.2	-	6	924	c.898G>A	c.(898-900)Gct>Act	p.A300T	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	300					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTCTGAAGCGCCAAGAGAA	0.438												
LOC440040	440040	broad.mit.edu	37	11	49598411	49598411	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:49598411T>A	uc010rhy.2	+	1	1002	c.524T>A	c.(523-525)aTa>aAa	p.I175K	LOC440040_uc009ymb.3_Missense_Mutation_p.I175K					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ATGGTGGACATAGTGAAGAGG	0.433												
OR5B17	219965	broad.mit.edu	37	11	58126152	58126152	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:58126152T>C	uc010rke.2	-	0	391	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGTGGTGGTATAATGTAGG	0.448												
CD6	923	broad.mit.edu	37	11	60786743	60786743	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:60786743C>G	uc001nqq.3	+	12	2185	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P587A|CD6_uc001nqt.3_Missense_Mutation_p.P578A	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	654					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGCCCTCAGCCTGACTCCAC	0.657												
CALCOCO1	57658	broad.mit.edu	37	12	54117525	54117525	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54117525C>T	uc001sef.3	-	3	446	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	101	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTCACATATCGGAACTGGTA	0.602												
HOXC11	3227	broad.mit.edu	37	12	54369092	54369092	+	Silent	SNP	C	C	T	rs141170619		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54369092C>T	uc001sem.3	+	1	926	c.810C>T	c.(808-810)aaC>aaT	p.N270N		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	270					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGATGCTGAACCTGACGGACC	0.478			T	NUP98	AML							
OR6C4	341418	broad.mit.edu	37	12	55945591	55945591	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:55945591A>G	uc010spp.2	+	0	581	c.581A>G	c.(580-582)gAa>gGa	p.E194G		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGCCTCTTAGAACTGATGGTC	0.468												
B4GALNT1	2583	broad.mit.edu	37	12	58020574	58020574	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:58020574G>A	uc001spg.1	-	10	1987	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	B4GALNT1_uc010sru.2_Missense_Mutation_p.R464W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	519					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGAGCAGCCGGTGTTTGGCC	0.597												
PHLDA1	22822	broad.mit.edu	37	12	76424413	76424413	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:76424413G>A	uc001sxu.3	-	0	1144	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	PHLDA1_uc021rax.1_Missense_Mutation_p.P370L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	370	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				atgcgggtgcgggtgagggtg	0.652												
ACACB	32	broad.mit.edu	37	12	109665288	109665288	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:109665288C>A	uc001tob.3	+	27	4114	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	ACACB_uc001toc.3_Missense_Mutation_p.P1332Q|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.3_5'Flank|ACACB_uc010sxm.2_5'Flank	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1332					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTCCCACCCAAACCGGTAT	0.587												
C12orf51	283450	broad.mit.edu	37	12	112620944	112620944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:112620944C>G	uc021reb.1	-	61	10900	c.10504G>C	c.(10504-10506)Gtg>Ctg	p.V3502L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ACTACAGACACGGTTAGAATC	0.353												
CLYBL	171425	broad.mit.edu	37	13	100425263	100425263	+	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr13:100425263A>C	uc001vok.3	+	2	280	c.249_splice	c.e2+1	p.K83_splice	CLYBL_uc010tix.2_Splice_Site_p.K83_splice|CLYBL_uc010tiy.2_Splice_Site_p.K83_splice	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	83					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAACAAAAAGGTAATGGCA	0.383												
OR11G2	390439	broad.mit.edu	37	14	20665689	20665689	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:20665689C>G	uc010tlb.2	+	0	195	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCCTCCTCTTTGTGCTCT	0.552												
ESR2	2100	broad.mit.edu	37	14	64723980	64723980	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:64723980C>T	uc001xha.1	-	5	1523	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	ESR2_uc001xgy.2_Missense_Mutation_p.G352D|ESR2_uc001xgu.3_Missense_Mutation_p.G352D|ESR2_uc001xgv.3_Missense_Mutation_p.G352D|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.G352D|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.G352D|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	352	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.G352C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGAGCTTGCCGGGGTGGTC	0.488												
PLEKHH1	57475	broad.mit.edu	37	14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:68035891C>T	uc001xjl.1	+	7	1442	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	434						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592												
ADAM20	8748	broad.mit.edu	37	14	70989515	70989515	+	Missense_Mutation	SNP	A	A	T	rs113965969		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:70989515A>T	uc021rvs.1	-	0	2110	c.2110T>A	c.(2110-2112)Tgc>Agc	p.C704S	ADAM20_uc001xme.3_Missense_Mutation_p.C704S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	654					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATGGTTGCAGTGACAGTGT	0.483												
ACOT4	122970	broad.mit.edu	37	14	74058995	74058995	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:74058995G>A	uc001xoo.3	+	0	586	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	111					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTGCTGGACGGCCACGACCCC	0.682												
HERC2	8924	broad.mit.edu	37	15	28514552	28514553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:28514552_28514553insC	uc001zbj.3	-	10	1393_1394	c.1287_1288insG	c.(1285-1290)gggttafs	p.G429fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	429					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCTATTAACCCCCAACCTA	0.436												
RASGRF1	5923	broad.mit.edu	37	15	79296158	79296158	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:79296158G>A	uc002beq.3	-	15	2858	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	RASGRF1_uc002bep.3_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.4_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.3_Missense_Mutation_p.A44V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	830					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A828A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGCTGAGCGCTGAAGGGTC	0.637												
PHLPP2	23035	broad.mit.edu	37	16	71689260	71689260	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:71689260C>T	uc002fax.3	-	15	2474	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R756Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	823	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R823R(1)|p.R823*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCCTCATTTCGGTCTCCATC	0.483												
CDH15	1013	broad.mit.edu	37	16	89256722	89256722	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:89256722G>A	uc002fmt.3	+	7	1127	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	350	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGCTGCAGGCGGCTGCCCTTA	0.637												
NF1	4763	broad.mit.edu	37	17	29550520	29550543	+	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	uc002hgg.3	+	15	2163_2186	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	c.(1780-1803)acagaaattctcaagtggttgcggdel	p.TEILKWLR594del	NF1_uc002hgh.3_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.2_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	594					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.W599*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	0.312			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
CARD14	79092	broad.mit.edu	37	17	78157817	78157817	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:78157817G>A	uc002jxw.1	+	3	649	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_Non-coding_Transcript	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	152					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCGGCGGTGCCAGCAG	0.667												
BAIAP2	10458	broad.mit.edu	37	17	79080620	79080620	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:79080620C>T	uc002jzg.2	+	11	1521	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	BAIAP2_uc002jyz.4_Silent_p.Y471Y|BAIAP2_uc002jza.2_Silent_p.Y471Y|BAIAP2_uc002jzc.2_Silent_p.Y472Y|BAIAP2_uc002jzb.2_Silent_p.Y228Y|BAIAP2_uc010wuh.1_Silent_p.Y393Y|BAIAP2_uc002jzd.2_Silent_p.Y471Y|BAIAP2_uc002jzf.2_Silent_p.Y471Y|BAIAP2_uc002jze.2_Silent_p.Y504Y|BAIAP2_uc002jzh.2_Silent_p.Y472Y|BAIAP2_uc010wui.2_Silent_p.Y334Y	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	471					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCCGATTACGGCGCCGCCT	0.697												
FECH	2235	broad.mit.edu	37	18	55230200	55230200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:55230200T>C	uc002lgq.4	-	5	728	c.611A>G	c.(610-612)aAt>aGt	p.N204S	FECH_uc002lgp.4_Missense_Mutation_p.N210S|FECH_uc002lgr.4_Missense_Mutation_p.N62S	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	204					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GTAAATGGCATTTAAGCTGCT	0.408												
ZNF236	7776	broad.mit.edu	37	18	74635065	74635065	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:74635065G>A	uc002lmi.3	+	20	3788	c.3590G>A	c.(3589-3591)tGt>tAt	p.C1197Y	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1197					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAAATGTGATGAATGT	0.368												
PLIN4	729359	broad.mit.edu	37	19	4511216	4511216	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:4511216G>T	uc002mar.1	-	2	2714	c.2714C>A	c.(2713-2715)aCc>aAc	p.T905N	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	905	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						AGTCTTGCTGGTGTCCACGCC	0.577												
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:15728930C>T	uc002nbi.3	+	2	382	c.318C>T	c.(316-318)atC>atT	p.I106I	CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	106					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567												
KCNA7	3743	broad.mit.edu	37	19	49573469	49573469	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49573469C>T	uc002pmg.3	-	1	1578	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	408						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCAGCCTCTTCGCCCTCTGTC	0.597												
RPL13A	23521	broad.mit.edu	37	19	49994303	49994303	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49994303C>T	uc002pny.3	+	5	371	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RPL13A_uc002pnz.3_Missense_Mutation_p.R56W|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACAGAAAAAGCGGATGGTGGT	0.562												
PRPF31	26121	broad.mit.edu	37	19	54627985	54627985	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:54627985C>T	uc002qdh.2	+	7	1201	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PRPF31_uc010yek.1_Missense_Mutation_p.P269S|PRPF31_uc021vbi.1_Missense_Mutation_p.P269S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	269	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAGTGCTGCCCCACACCGG	0.672												
PPP1R12C	54776	broad.mit.edu	37	19	55603589	55603589	+	Splice_Site	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:55603589C>G	uc002qix.3	-	19	2176	c.2160_splice	c.e19+1	p.Q720_splice	PPP1R12C_uc010yfs.2_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.3_Splice_Site_p.Q718_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	720						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTTACCTGCGTGGCC	0.721												
NBAS	51594	broad.mit.edu	37	2	15615941	15615941	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:15615941G>A	uc002rcc.1	-	13	1237	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	404										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCATCGAGCTAAAGTCAC	0.398												
WDR92	116143	broad.mit.edu	37	2	68358402	68358402	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:68358402C>G	uc002see.1	-	7	1123	c.1042G>C	c.(1042-1044)Gta>Cta	p.V348L	WDR92_uc002sed.1_Intron	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	348					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACGATCAGTACTCTCACCGTT	0.478												
TTC31	64427	broad.mit.edu	37	2	74710499	74710499	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:74710499C>T	uc002slt.2	+	1	114	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	TTC31_uc002sls.2_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.3_5'Flank|CCDC142_uc002slq.3_5'Flank|CCDC142_uc002slr.3_5'Flank|CCDC142_uc002slp.2_5'Flank	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	31							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCACCCAAACTTTGCAAGGA	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAB3GAP1	22930	broad.mit.edu	37	2	135890504	135890504	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:135890504G>C	uc010fnf.3	+	13	1319	c.1276G>C	c.(1276-1278)Gga>Cga	p.G426R	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.G426R|RAB3GAP1_uc010fng.3_Missense_Mutation_p.G251R|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.	426						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			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)		ACCATTAGATGGAACTACTTC	0.308												
NEB	4703	broad.mit.edu	37	2	152580858	152580858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:152580858C>T	uc021vrb.1	-	5	557	c.528G>A	c.(526-528)tgG>tgA	p.W176*	NEB_uc002txu.3_Nonsense_Mutation_p.W176*|NEB_uc021vrc.1_Nonsense_Mutation_p.W176*|NEB_uc010fnx.3_Nonsense_Mutation_p.W176*|NEB_uc021vrd.1_Nonsense_Mutation_p.W176*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		TGGTGTCTTCCCAGTTCTGCT	0.493												
TTN	7273	broad.mit.edu	37	2	179610717	179610717	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:179610717C>T	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.M5470I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CAGAATCTCCCATGGTGAGGA	0.398												
C2orf83	56918	broad.mit.edu	37	2	228476292	228476292	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:228476292T>A	uc002vph.3	-	2	506	c.271A>T	c.(271-273)Att>Ttt	p.I91F	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	91						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCAGGGTGAATGAAGGTCAGC	0.517												
PTPRT	11122	broad.mit.edu	37	20	41100999	41100999	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:41100999G>A	uc002xkg.3	-	7	1541	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	PTPRT_uc010ggj.3_Missense_Mutation_p.R453C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	453	Fibronectin type-III 2.		R -> C (in a gastric cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAGGGGCGCAGGCCTCGC	0.607												
SLC13A3	64849	broad.mit.edu	37	20	45204315	45204315	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:45204315G>C	uc002xsf.2	-	9	1269	c.1229C>G	c.(1228-1230)aCa>aGa	p.T410R	SLC13A3_uc010ghn.2_Missense_Mutation_p.T379R|SLC13A3_uc010zxx.2_Missense_Mutation_p.T312R|SLC13A3_uc010zxw.2_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.2_Missense_Mutation_p.T363R|SLC13A3_uc010gho.2_Missense_Mutation_p.T328R|SLC13A3_uc010zxv.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	410						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTCTGTCTCTGTGTTGGGAGC	0.622												
KRTAP10-1	386677	broad.mit.edu	37	21	45959481	45959481	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr21:45959481C>T	uc002zfh.1	-	0	598	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	185	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGACGGGCACGCAGCAGGCC	0.627												
RIMBP3	85376	broad.mit.edu	37	22	20458153	20458153	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:20458153G>A	uc002zsd.4	-	0	3634	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCGGTAGTGCGTGCCGGGGCA	0.642												
CABIN1	23523	broad.mit.edu	37	22	24439394	24439394	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:24439394A>G	uc002zzi.1	+	5	501	c.374A>G	c.(373-375)aAc>aGc	p.N125S	CABIN1_uc021wnc.1_Missense_Mutation_p.N125S|CABIN1_uc002zzj.1_Missense_Mutation_p.N125S|CABIN1_uc002zzl.2_Missense_Mutation_p.N125S|CABIN1_uc010guk.1_Missense_Mutation_p.N80S|CABIN1_uc002zzk.2_Missense_Mutation_p.N80S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGATGTCAACCTCTGGTAT	0.557												
MAPK8IP2	23542	broad.mit.edu	37	22	51042339	51042340	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:51042339_51042340delGC	uc003bmx.3	+	4	728_729	c.611_612delGC	c.(610-612)tgcfs	p.C204fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	204	JNK-binding domain (JBD).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCCGGGTTGCGACTGCGAAG	0.743												
TADA3	10474	broad.mit.edu	37	3	9825867	9825867	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:9825867G>A	uc003bsx.1	-	7	1499	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TADA3_uc010hcn.1_Silent_p.R317R|TADA3_uc003bsy.3_Silent_p.R317R|TADA3_uc003bsw.1_Silent_p.R146R	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	317					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCCTTGATGCGGCTCTCCA	0.622												
PLCL2	23228	broad.mit.edu	37	3	17052411	17052411	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:17052411A>T	uc011awc.2	+	2	1645	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.2_Missense_Mutation_p.I399F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	525	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACTGTTCCATTAAACAACA	0.373												
SEC22C	9117	broad.mit.edu	37	3	42602655	42602655	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:42602655C>G	uc003clj.3	-	3	690	c.480G>C	c.(478-480)gtG>gtC	p.V160V	SEC22C_uc003clh.3_Silent_p.V160V|SEC22C_uc010hic.3_Silent_p.V160V|SEC22C_uc011azo.2_Silent_p.V90V|SEC22C_uc003cli.3_Silent_p.V160V	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	160					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCCCATTTGCCACATCTGTGT	0.468												
ARIH2	10425	broad.mit.edu	37	3	48965232	48965232	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:48965232G>T	uc003cvb.3	+	2	553	c.241G>T	c.(241-243)Gct>Tct	p.A81S	ARIH2_uc003cvc.3_Missense_Mutation_p.A81S|ARIH2_uc003cvf.3_5'UTR|ARIH2_uc010hkl.3_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	81					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GACCAGCTTAGCTTCTGTCCT	0.483												
ROBO2	6092	broad.mit.edu	37	3	77147196	77147196	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:77147196G>A	uc011bgk.2	+	1	736	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ROBO2_uc021xat.1_Silent_p.P47P|ROBO2_uc003dpy.4_Silent_p.P31P|ROBO2_uc003dpz.3_Silent_p.P31P|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.	31	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTTTCCCCCGCGGATTGTGG	0.537												
ADCY5	111	broad.mit.edu	37	3	123036910	123036910	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:123036910C>T	uc003egh.2	-	10	2311	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	ADCY5_uc021xdd.1_Missense_Mutation_p.V421I|ADCY5_uc003egg.2_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	771					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGAGGAAGACGAGCGAGGCA	0.602												
TNFSF10	8743	broad.mit.edu	37	3	172241153	172241153	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:172241153C>A	uc003fid.3	-	0	145	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.2_Missense_Mutation_p.G8W	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	8					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGTCCCCCCTGGACCTCC	0.527												
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597												
MUC4	4585	broad.mit.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195516064C>T	uc021xjp.1	-	1	2543	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.R678Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.R796Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGTGGTTCGTGACCCTGA	0.602												
SH3TC1	54436	broad.mit.edu	37	4	8233729	8233729	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:8233729T>A	uc003gkv.4	+	12	3078	c.2977T>A	c.(2977-2979)Tgc>Agc	p.C993S	SH3TC1_uc003gkw.4_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	993							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGCGGCTGTGCCACTTCTA	0.642												
CPEB2	132864	broad.mit.edu	37	4	15060838	15060838	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:15060838G>A	uc003gnk.2	+	9	2608	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	CPEB2_uc003gnl.2_Missense_Mutation_p.D843N|CPEB2_uc003gnm.2_Missense_Mutation_p.D840N|CPEB2_uc003gni.2_Missense_Mutation_p.D862N|CPEB2_uc003gnn.2_Missense_Mutation_p.D835N|CPEB2_uc003gnj.2_Missense_Mutation_p.D832N	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	425					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373												
GABRA4	2557	broad.mit.edu	37	4	46979123	46979123	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:46979123C>T	uc003gxg.3	-	4	1515	c.532G>A	c.(532-534)Gat>Aat	p.D178N	GABRA4_uc021xnz.1_Missense_Mutation_p.D159N|GABRA4_uc021xoa.1_Missense_Mutation_p.D159N	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	178					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGGAAAATCCACCAATCTC	0.333												
SLC10A4	201780	broad.mit.edu	37	4	48490671	48490671	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:48490671C>T	uc003gyc.2	+	2	1248	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	343						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGTGCAGCTCTGTACAGCCA	0.473												
DNAH5	1767	broad.mit.edu	37	5	13886073	13886073	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:13886073C>T	uc003jfd.2	-	18	2785	c.2743_splice	c.e18+1	p.A915_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	915	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)					CATCTCTTACCTGAACTTTCA	0.289									Kartagener syndrome			
CD14	929	broad.mit.edu	37	5	140012230	140012230	+	Silent	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140012230T>A	uc003lgi.2	-	1	718	c.339A>T	c.(337-339)ctA>ctT	p.L113L	CD14_uc003lgj.2_Silent_p.L113L|CD14_uc021yej.1_Silent_p.L113L|CD14_uc021yek.1_Silent_p.L113L|CD14_uc021yel.1_5'UTR	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	113					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTACGCTAGCACACGCA	0.622												
PCDHAC2	56147	broad.mit.edu	37	5	140166089	140166089	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140166089A>G	uc003lhb.2	+	0	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	PCDHAC2_uc003lha.2_Missense_Mutation_p.R72G|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R72G	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	87	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)			CAAAACACACAGGGACCTTCT	0.592												
PCDHAC2	56136	broad.mit.edu	37	5	140263838	140263838	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140263838C>T	uc003lif.2	+	0	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.T662M|PCDHAC2_uc003lid.3_Missense_Mutation_p.T662M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	673	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T662M(1)		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)			CTGACGGCCACGGCAACGGTG	0.701												
ODZ2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:167420177G>A	uc010jjd.3	+	4	1176	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	ODZ2_uc021yhi.1_Silent_p.A322A|ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.4_Silent_p.A201A	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)		TTTTGCTGGCGTATTTCATAG	0.537												
SLIT3	6586	broad.mit.edu	37	5	168149967	168149967	+	Silent	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:168149967G>T	uc010jjg.3	-	21	2802	c.2382C>A	c.(2380-2382)acC>acA	p.T794T	SLIT3_uc003mab.3_Silent_p.T794T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	794					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTACTGAAGGTGTAATTGG	0.478												
MAS1L	116511	broad.mit.edu	37	6	29455303	29455303	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:29455303G>A	uc011dlq.2	-	0	377	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	126						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCCCACTGCCGAGCAGCAAAG	0.502												
SKIV2L	6499	broad.mit.edu	37	6	31937127	31937127	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:31937127C>T	uc003nyn.1	+	26	3859	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1157						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGAACCAGACGGTGGAGGAA	0.557												
NOTCH4	4855	broad.mit.edu	37	6	32165183	32165183	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:32165183C>T	uc003obb.3	-	26	5084	c.4945G>A	c.(4945-4947)Gct>Act	p.A1649T	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.A58T|NOTCH4_uc003oba.3_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1649					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGCGGGCAGCGGTTGGCCGG	0.697												
CD164	8763	broad.mit.edu	37	6	109690088	109690088	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:109690088C>A	uc003pte.3	-	5	741	c.560G>T	c.(559-561)tGc>tTc	p.C187F	CD164_uc003ptd.3_Intron|CD164_uc003ptf.3_Missense_Mutation_p.C168F|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Missense_Mutation_p.C174F	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	187					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TTTAGATTTGCAGAATTTATA	0.383												
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:117686282delG	uc003pxp.1	-	19	3258	c.3059delC	c.(3058-3060)cctfs	p.P1020fs	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.	1020	Fibronectin type-III 4.				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)		GTAGGTATAAGGAGTGACAGA	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
LFNG	3955	broad.mit.edu	37	7	2559902	2559902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:2559902delC	uc003smf.3	+	0	424	c.407delC	c.(406-408)accfs	p.T136fs	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Frame_Shift_Del_p.T136fs	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	136					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTGGAGACCTGGATCTCG	0.706												
DYNC1I1	1780	broad.mit.edu	37	7	95664970	95664970	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:95664970G>A	uc003uoc.4	+	12	1598	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	DYNC1I1_uc003uod.4_Missense_Mutation_p.A424T|DYNC1I1_uc003uob.3_Missense_Mutation_p.A404T|DYNC1I1_uc003uoe.4_Missense_Mutation_p.A421T|DYNC1I1_uc010lfl.3_Missense_Mutation_p.A430T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	441					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGCCTGTCGCTGTTACCGG	0.498												
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:127964701G>A	uc003vmp.2	-	11	1365	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_uc011koj.1_Missense_Mutation_p.A276V|RBM28_uc011kok.1_Missense_Mutation_p.A364V	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	417	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.A417A(2)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552												
AHCYL2	23382	broad.mit.edu	37	7	129040182	129040182	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:129040182G>A	uc011kov.2	+	5	938	c.875G>A	c.(874-876)tGt>tAt	p.C292Y	AHCYL2_uc003vot.3_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.3_Missense_Mutation_p.C189Y|AHCYL2_uc011kox.2_Missense_Mutation_p.C189Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	292					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTTGGTGGTGTATCGATAGA	0.463												
DPP6	1804	broad.mit.edu	37	7	154561187	154561187	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:154561187A>G	uc003wlk.3	+	8	1073	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	DPP6_uc003wli.3_Missense_Mutation_p.Y251C|DPP6_uc003wlm.3_Missense_Mutation_p.Y253C|DPP6_uc011kvq.2_Missense_Mutation_p.Y208C	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	315					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)			AGACTCGCCTACGCCGCCATC	0.527												
ZFAT	57623	broad.mit.edu	37	8	135622736	135622736	+	Nonsense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr8:135622736A>T	uc003yup.3	-	3	797	c.611T>A	c.(610-612)tTa>tAa	p.L204*	ZFAT_uc003yun.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.L192*|ZFAT_uc010meh.3_Nonsense_Mutation_p.L192*|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yur.3_Nonsense_Mutation_p.L192*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGTGCAGTTAAAACCACACT	0.502												
MORN5	254956	broad.mit.edu	37	9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr9:124936831G>A	uc011lyn.2	+	3	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	122								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463												
XKRX	402415	broad.mit.edu	37	X	100169504	100169504	+	Silent	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:100169504A>G	uc004egn.2	-	2	1778	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	XKRX_uc011mre.1_Silent_p.Y187Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	391						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGGAAATCAGATAAGCAATAA	0.403												
SLITRK4	139065	broad.mit.edu	37	X	142718880	142718880	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:142718880C>T	uc022cfm.1	-	0	45	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLITRK4_uc022cfl.1_Silent_p.S15S|SLITRK4_uc004fbx.3_Silent_p.S15S|SLITRK4_uc004fby.3_Silent_p.S15S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	15						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTTGTCGAAGAAATCA	0.388