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
MASP2	10747	broad.mit.edu	37	1	11107017	11107017	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:11107017G>A	uc001aru.3	-	1	197	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	55	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGCAGGCGGTAGCCGGGGG	0.657												
ZNF362	149076	broad.mit.edu	37	1	33745906	33745906	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:33745906G>C	uc001bxc.1	+	4	701	c.531G>C	c.(529-531)aaG>aaC	p.K177N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCCATCAAGACAATCCAGG	0.667												
KLF17	128209	broad.mit.edu	37	1	44595485	44595485	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:44595485G>A	uc001clp.3	+	1	600	c.542G>A	c.(541-543)gGc>gAc	p.G181D	KLF17_uc009vxf.1_Missense_Mutation_p.G144D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	181					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTACCCTGGCCTCTCGACA	0.597												
LRRC7	57554	broad.mit.edu	37	1	70489054	70489054	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:70489054A>T	uc001dep.3	+	14	1707	c.1677A>T	c.(1675-1677)agA>agT	p.R559S	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	559						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAGTGGCAGACAGGTAGGCC	0.507												
NEGR1	257194	broad.mit.edu	37	1	72400892	72400892	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:72400892A>C	uc001dfw.3	-	1	507	c.279T>G	c.(277-279)atT>atG	p.I93M	NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	93	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAATGTTGAAATTGAAACTC	0.443												
MOV10	4343	broad.mit.edu	37	1	113232671	113232671	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:113232671G>A	uc001eck.3	+	4	1057	c.787G>A	c.(787-789)Gga>Aga	p.G263R	MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	263					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGGATCACCGGAAACCCTGT	0.602												
INSRR	3645	broad.mit.edu	37	1	156816384	156816384	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:156816384C>T	uc010pht.2	-	7	2036	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	579	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTGGTTAGCGTGATGGCCC	0.607												
OR10Z1	128368	broad.mit.edu	37	1	158576316	158576316	+	Silent	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:158576316T>C	uc010pio.2	+	0	88	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTTTGCCTTGTTCCTCTC	0.502												
ATF6	22926	broad.mit.edu	37	1	161816315	161816315	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:161816315T>C	uc001gbs.3	+	9	1381	c.1264T>C	c.(1264-1266)Tct>Cct	p.S422P	ATF6_uc001gbq.2_Missense_Mutation_p.S422P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	422					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TCTAGGATTTTCTGCTAAAGA	0.403												
GORAB	92344	broad.mit.edu	37	1	170511696	170511696	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:170511696C>T	uc001gha.2	+	2	586	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	187						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAAATAAACGTAAAAAAGC	0.398												
PAPPA2	60676	broad.mit.edu	37	1	176526282	176526282	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:176526282G>A	uc001gkz.3	+	1	1988	c.824G>A	c.(823-825)cGt>cAt	p.R275H	PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	275					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTGCTGCGTCCAGAAGTG	0.577												
HMCN1	83872	broad.mit.edu	37	1	186062774	186062774	+	Missense_Mutation	SNP	G	G	A	rs143555094		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:186062774G>A	uc001grq.1	+	65	10398	c.10169G>A	c.(10168-10170)cGg>cAg	p.R3390Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3390	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCCATATCCGGTTACTGGCA	0.428												
AVPR1B	553	broad.mit.edu	37	1	206224826	206224826	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:206224826C>T	uc001hds.2	+	0	544	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	129					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T129M(4)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGCCATGACGCTGGACCGC	0.657												
CD55	1604	broad.mit.edu	37	1	207500170	207500170	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:207500170C>T	uc001hfq.4	+	4	946	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	218	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACCCGTTGCCAGAGTGCAG	0.403												
SIPA1L2	57568	broad.mit.edu	37	1	232581433	232581433	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:232581433C>T	uc001hvg.3	-	8	3353	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	SIPA1L2_uc001hvf.3_Silent_p.T139T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1065					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGGTGCCACGTGGTGTTCC	0.642												
OR2L13	284521	broad.mit.edu	37	1	248262881	248262881	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248262881G>T	uc001ids.3	+	2	541	c.204G>T	c.(202-204)atG>atT	p.M68I	OR2L13_uc021pmc.1_Missense_Mutation_p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTCCCTTATGGACCTGATGT	0.547												
OR2T4	127074	broad.mit.edu	37	1	248525679	248525679	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248525679G>A	uc001ieh.1	+	0	797	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGAGGGCCGGAAAAAGGCC	0.547												
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527												
GDF2	2658	broad.mit.edu	37	10	48413956	48413956	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:48413956C>T	uc001jfa.1	-	1	1072	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	304					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCT	0.607												
A1CF	29974	broad.mit.edu	37	10	52566580	52566580	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:52566580G>T	uc001jjj.3	-	12	1882	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	565					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGTCCAAGGGTTACCGCTTG	0.493												
PTEN	5728	broad.mit.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:89692883C>T	uc001kfb.3	+	4	1399	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
FAM178A	55719	broad.mit.edu	37	10	102676871	102676871	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:102676871C>T	uc001krs.3	+	2	1271	c.729C>T	c.(727-729)taC>taT	p.Y243Y	FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	243																	TAGCTTCTTACTGCAGAGAAC	0.473												
PCGF6	84108	broad.mit.edu	37	10	105108477	105108477	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:105108477T>C	uc001kwt.3	-	2	621	c.553A>G	c.(553-555)Ata>Gta	p.I185V	PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.	185					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTACCTTATGTTATAAAGA	0.284												
OR56B4	196335	broad.mit.edu	37	11	6129052	6129052	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:6129052T>A	uc010qzx.2	+	0	44	c.44T>A	c.(43-45)aTt>aAt	p.I15N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCAGATTTCCCAGTTC	0.493												
QSER1	79832	broad.mit.edu	37	11	32954286	32954286	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:32954286G>A	uc001mty.3	+	3	1362	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	365	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTCCAGCAAGGTTGAGAAAT	0.383												
OR5AR1	219493	broad.mit.edu	37	11	56431526	56431526	+	Missense_Mutation	SNP	G	G	A	rs143043362		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:56431526G>A	uc010rjm.2	+	0	365	c.365G>A	c.(364-366)cGt>cAt	p.R122H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCCTATGGTCGTTTTGTGGCC	0.512												
PLAC1L	219990	broad.mit.edu	37	11	59807826	59807826	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:59807826C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAGGAAAACGAACGCAGCT	0.463												
MS4A14	84689	broad.mit.edu	37	11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:60183888T>A	uc001npj.3	+	4	2012	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	483	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAAAATCCTCAAGACGGCA	0.398												
AHNAK	79026	broad.mit.edu	37	11	62285625	62285625	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:62285625C>T	uc001ntl.3	-	4	16564	c.16264G>A	c.(16264-16266)Gtc>Atc	p.V5422I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5422					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGCATTGACGTGCAAGTCG	0.532												
RBM14	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	uc009yrj.3	+	2	1344_1364	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	480	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615												
DHH	50846	broad.mit.edu	37	12	49483743	49483743	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:49483743G>A	uc001rtf.3	-	2	1397	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	364					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CCTAGCGCGTGCAGCAGTCTC	0.667												
ACVRL1	94	broad.mit.edu	37	12	52312886	52312887	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:52312886_52312887TG>GT	uc001rzj.3	+	8	1647_1648	c.1364_1365TG>GT	c.(1363-1365)ctg>cGT	p.L455R	ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	455	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTAACCGGCTGGCTGCAGACC	0.599												
TPCN1	53373	broad.mit.edu	37	12	113730818	113730818	+	Silent	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:113730818G>C	uc001tux.3	+	26	2583	c.2409G>C	c.(2407-2409)cgG>cgC	p.R803R	TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	731						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGGAGGCACGGGGGGCCTCCT	0.617												
ORAI1	84876	broad.mit.edu	37	12	122079191	122079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:122079191G>A	uc021rff.1	+	1	747	c.554G>A	c.(553-555)gGc>gAc	p.G185D		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	183					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ACCGTCATCGGCACGCTGCTC	0.637												
ENOX1	55068	broad.mit.edu	37	13	43935415	43935415	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr13:43935415T>C	uc001uza.4	-	6	682	c.382_splice	c.e6+1	p.N128_splice	ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	128	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTTACTTACTTGGATTTTGA	0.378												
PRKD1	5587	broad.mit.edu	37	14	30068325	30068325	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr14:30068325C>T	uc001wqh.3	-	14	2255	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	692	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCAAAGCCACGAGTATCTGT	0.368												
MKRN3	7681	broad.mit.edu	37	15	23811197	23811197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:23811197C>T	uc001ywh.4	+	0	744	c.268C>T	c.(268-270)Cga>Tga	p.R90*	MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	90						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTTGCCAAGCCGAAGCAGCGG	0.607												
FBN1	2200	broad.mit.edu	37	15	48744871	48744871	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:48744871C>A	uc001zwx.2	-	44	5828	c.5433G>T	c.(5431-5433)gaG>gaT	p.E1811D	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1811	EGF-like 30; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTTCTGACACTCGTCAATAT	0.488												
VPS13C	54832	broad.mit.edu	37	15	62292774	62292774	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:62292774C>A	uc002agz.3	-	15	1433	c.1342G>T	c.(1342-1344)Gca>Tca	p.A448S	VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	448					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAACTTGTGCTTGTTGCCTT	0.308												
TLN2	83660	broad.mit.edu	37	15	63058560	63058560	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:63058560G>A	uc002alb.4	+	37	5135	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1712					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGAAATCGGACACCTTATC	0.572												
SH3GL3	6457	broad.mit.edu	37	15	84245409	84245409	+	Silent	SNP	C	C	T	rs138675150	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:84245409C>T	uc002bjw.3	+	5	735	c.540C>T	c.(538-540)gaC>gaT	p.D180D	SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGATACCAGACGAAGAAGTCA	0.383												
CHD2	1106	broad.mit.edu	37	15	93563361	93563361	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:93563361G>A	uc002bsp.3	+	37	5601	c.5026G>A	c.(5026-5028)Ggg>Agg	p.G1676R	CHD2_uc002bso.1_Missense_Mutation_p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1676					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACCATTATGGGGACCGGCG	0.527												
IL4R	3566	broad.mit.edu	37	16	27363945	27363945	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:27363945C>T	uc002don.3	+	6	840	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	200	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.A199V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTACAGGGCACGGGTGAGGGC	0.552												
PLCG2	5336	broad.mit.edu	37	16	81954828	81954828	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:81954828A>C	uc002fgt.3	+	20	2439	c.2261A>C	c.(2260-2262)gAc>gCc	p.D754A	PLCG2_uc010chg.1_Missense_Mutation_p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	754					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCCTCTACGACGTCAGCAGA	0.428												
OR1D4	653166	broad.mit.edu	37	17	3144469	3144469	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:3144469C>A	uc002fvf.3	+	0	500	c.500C>A	c.(499-501)aCc>aAc	p.T167N						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		ACCAGGGTGACCTTCTGTGGG	0.542												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7578211	7578214	+	Frame_Shift_Del	DEL	CGAA	CGAA	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7578211_7578214delCGAA	uc002gim.2	-	5	829_832	c.635_638delTTCG	c.(634-639)tttcgafs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTTTCT	0.534		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CDRT1	10626	broad.mit.edu	37	17	15517208	15517208	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:15517208C>T	uc002gor.1	-	8	2077	c.1740G>A	c.(1738-1740)ggG>ggA	p.G580G	CDRT1_uc002gov.4_Silent_p.G270G			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	270										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTTGCTGAACCCAGAAGACA	0.488												
KPNB1	3837	broad.mit.edu	37	17	45734349	45734349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:45734349delA	uc002ilt.1	+	3	742	c.406delA	c.(406-408)aatfs	p.N136fs	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	136					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GCTGGTGGCCAATGTCACAAA	0.483												
RBBP8	5932	broad.mit.edu	37	18	20573449	20573449	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:20573449C>G	uc002kua.3	+	10	1782	c.1659C>G	c.(1657-1659)ccC>ccG	p.P553P	RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	553					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.P553P(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGGGGAGCCCTGTTCACAGG	0.438								Homologous recombination				
PSMA8	143471	broad.mit.edu	37	18	23738210	23738210	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:23738210T>A	uc002kvq.3	+	4	609	c.495_splice	c.e4+2	p.K165_splice	PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCTTGGAAGGTGAGTCATGAA	0.299												
SERPINB3	6317	broad.mit.edu	37	18	61323223	61323223	+	Missense_Mutation	SNP	C	C	T	rs143634391		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:61323223C>T	uc002lji.3	-	7	985	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACGTGTC	0.418												
FARSA	2193	broad.mit.edu	37	19	13041262	13041262	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:13041262C>T	uc002mvs.2	-	2	413	c.365G>A	c.(364-366)gGg>gAg	p.G122E	FARSA_uc010xmv.1_Missense_Mutation_p.G122E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	122					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CACCCGGGGCCCGTCAGCCGC	0.637												
ZNF681	148213	broad.mit.edu	37	19	23927229	23927229	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:23927229A>C	uc002nrk.4	-	3	1265	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACTGCCTAAAGGCTTTGCCA	0.413												
ZNF569	148266	broad.mit.edu	37	19	37905163	37905163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:37905163T>C	uc002ogj.3	-	8	1401	c.469A>G	c.(469-471)Aga>Gga	p.R157G	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTGTGTCTGGAAGGGAAA	0.323												
PRX	57716	broad.mit.edu	37	19	40903183	40903183	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:40903183C>T	uc002onr.3	-	6	1345	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	359					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAAACTAAGGCGGGGCATCTT	0.637												
SIGLEC8	27181	broad.mit.edu	37	19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:51960834C>T	uc002pwt.3	-	1	681	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	205	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652												
NLRP7	199713	broad.mit.edu	37	19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:55451643C>T	uc002qih.4	-	3	620	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	182	NACHT.						ATP binding	p.V182M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562												
USP29	57663	broad.mit.edu	37	19	57641754	57641754	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:57641754T>A	uc002qny.3	+	3	2067	c.1711T>A	c.(1711-1713)Tct>Act	p.S571T	USP29_uc021vci.1_Missense_Mutation_p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	571					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGATGATTTCTGAGATCAA	0.468												
NBAS	51594	broad.mit.edu	37	2	15417158	15417158	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:15417158G>T	uc002rcc.1	-	42	5232	c.5206C>A	c.(5206-5208)Cca>Aca	p.P1736T	NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1736								p.P1736L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGGCTTCTGGATCAGTCTTC	0.398												
ASXL2	55252	broad.mit.edu	37	2	25965918	25965918	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:25965918C>T	uc002rgs.2	-	11	3509	c.3288G>A	c.(3286-3288)caG>caA	p.Q1096Q	ASXL2_uc002rgt.1_Silent_p.Q579Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCCAGCTGGAAACCTG	0.493												
IL18R1	8809	broad.mit.edu	37	2	102984390	102984390	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:102984390G>T	uc002tbw.4	+	2	314	c.164G>T	c.(163-165)aGc>aTc	p.S55I	IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	55	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.S55N(2)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448												
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567												
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468												
ITGA6	3655	broad.mit.edu	37	2	173338970	173338970	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:173338970G>A	uc002uhp.1	+	5	1166	c.963G>A	c.(961-963)gcG>gcA	p.A321A	ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	360					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGATGTGGCGGTGGTGGACC	0.483												
TTN	7273	broad.mit.edu	37	2	179528769	179528769	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:179528769T>G	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.K259Q	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)			TCAGGCTTTTTAGGAGGCACC	0.388												
ALPP	250	broad.mit.edu	37	2	233246043	233246043	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:233246043C>T	uc002vsq.3	+	9	1440	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	425						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTCAAGGACGGCGCCCGGC	0.697												
COL6A3	1293	broad.mit.edu	37	2	238275874	238275874	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:238275874C>T	uc002vwl.2	-	10	5241	c.4956G>A	c.(4954-4956)agG>agA	p.R1652R	COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1652	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAAACTGTCCCTCCTGAAGT	0.433												
OR6B2	389090	broad.mit.edu	37	2	240969715	240969715	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:240969715G>T	uc010zoc.2	-	0	132	c.132C>A	c.(130-132)gcC>gcA	p.A44A	OR6B2_uc002vyr.3_Silent_p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGGATGATGGCCAGGTTCT	0.577												
SIRPB1	10326	broad.mit.edu	37	20	1600544	1600544	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:1600544A>G	uc010gai.3	-	0	146	c.47T>C	c.(46-48)cTg>cCg	p.L16P	SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	16					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCGTCATCAGCAGGAAAGG	0.572												
NINL	22981	broad.mit.edu	37	20	25457045	25457045	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:25457045G>A	uc002wux.1	-	16	2956	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	961					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGCCTCAGGGGTGGCTCCCA	0.692												
PPP1R16B	26051	broad.mit.edu	37	20	37547256	37547256	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:37547256G>A	uc002xje.3	+	10	1840	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGTTCAAGGCCCCCATAGA	0.577												
BMP7	655	broad.mit.edu	37	20	55777537	55777537	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:55777537G>A	uc010gip.1	-	2	1283	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	BMP7_uc002xyc.3_Silent_p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	252					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCACCATCCAGCGTCTCCACC	0.607												
CACNG2	10369	broad.mit.edu	37	22	36983511	36983511	+	Splice_Site	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:36983511C>T	uc003aps.2	-	2	364	c.295_splice	c.e2+1	p.R99_splice		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	99					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCACTCACGGAGGAAATA	0.507												
LINC00207	388910	broad.mit.edu	37	22	44967345	44967345	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:44967345C>T	uc011aqg.2	+	3		c.348C>T			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						TCTGGAGGGACGTCCTGTCAG	0.557												
CHL1	10752	broad.mit.edu	37	3	424158	424158	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:424158G>T	uc003bot.3	+	18	2621	c.1979_splice	c.e18-1	p.E660_splice	CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	644	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACTACCAGAGTATATTGTTG	0.338												
POLQ	10721	broad.mit.edu	37	3	121206922	121206922	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:121206922T>G	uc003eee.4	-	15	4985	c.4856A>C	c.(4855-4857)aAa>aCa	p.K1619T	POLQ_uc003eed.3_Missense_Mutation_p.K791T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1619					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCAGTTAATTTTGATTTTTC	0.408								DNA polymerases (catalytic subunits)				
EFCAB12	90288	broad.mit.edu	37	3	129137225	129137225	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:129137225G>A	uc003emg.3	-	2	716	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GACAGGGCAGGGGGCTCGGGC	0.602												
PRR23C	389152	broad.mit.edu	37	3	138762733	138762733	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:138762733G>A	uc011bmt.1	-	0	1002	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	244	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AGCTCCGGGCGCGCGTGGGGA	0.642												
NMNAT3	349565	broad.mit.edu	37	3	139297857	139297857	+	Silent	SNP	G	G	A	rs79043406	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:139297857G>A	uc003etj.3	-	1	190	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	50					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATAGGTGTCGTTGACAGGAG	0.572												
MCF2L2	23101	broad.mit.edu	37	3	182897228	182897228	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:182897228C>T	uc003fli.1	-	29	3375	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	1095					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGCCGTCGCCCCCGCAGGAG	0.741												
DRD5	1816	broad.mit.edu	37	4	9784506	9784506	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:9784506C>T	uc003gmb.4	+	0	1249	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CACCAGCCTGCGCGCTTCCAT	0.627												
PCDH7	5099	broad.mit.edu	37	4	30724196	30724196	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:30724196G>T	uc003gsk.1	+	0	2160	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	384	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCGCTTCACGGTCATGGCCC	0.652												
OCIAD1	54940	broad.mit.edu	37	4	48852092	48852092	+	Missense_Mutation	SNP	C	C	T	rs150423557		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:48852092C>T	uc010igk.3	+	5	601	c.385C>T	c.(385-387)Cca>Tca	p.P129S	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	124						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACGATCTTCACCACCTGGGTA	0.373												
MOB1B	92597	broad.mit.edu	37	4	71847741	71847741	+	Silent	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:71847741A>G	uc011cba.2	+	6	927	c.633A>G	c.(631-633)gaA>gaG	p.E211E	MOB1B_uc003hfw.3_Silent_p.E206E	NM_001244766	NP_001231695	Q7L9L4	MOL1A_HUMAN	Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA.	206					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										CACTCCAAGAACTGATTGAAA	0.353												
SLC39A8	64116	broad.mit.edu	37	4	103184237	103184237	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:103184237G>A	uc003hwb.1	-	7	1876	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	449						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAAGGTAATGAGTAGAATGG	0.348												
TET2	54790	broad.mit.edu	37	4	106158045	106158045	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:106158045G>C	uc011cez.2	+	2	3414	c.3009G>C	c.(3007-3009)aaG>aaC	p.K1003N	TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	982					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.W1003*(2)|p.W1003fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCCAATTAAGGTGGAACCTG	0.473			"""Mis N, F"""		MDS							
EGF	1950	broad.mit.edu	37	4	110880565	110880565	+	Silent	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:110880565C>A	uc003hzy.4	+	5	1490	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	346	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGGATACGCCCTAAGTCGAG	0.502												
TBC1D9	23158	broad.mit.edu	37	4	141578365	141578365	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:141578365C>T	uc010ioj.3	-	12	2495	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	741						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTTTATTGGTCACACTGTCTA	0.438												
PCDHB5	26167	broad.mit.edu	37	5	140517019	140517019	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:140517019C>T	uc003liq.3	+	0	2220	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	668	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.701												
C5orf25	375484	broad.mit.edu	37	5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:175717198G>A	uc003mds.4	+	3	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|C5orf25_uc003mdu.1_Missense_Mutation_p.R116Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	205	Pro-rich.											all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGCCCCCTGCGACCTTTGCCA	0.587												
HK3	3101	broad.mit.edu	37	5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:176311062C>T	uc003mfa.3	-	13	2023	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HK3_uc003mez.3_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R644W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGCTTCCCGCAACAGACT	0.587												
DSP	1832	broad.mit.edu	37	6	7585169	7585169	+	Silent	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:7585169T>A	uc003mxp.1	+	23	7953	c.7674T>A	c.(7672-7674)gcT>gcA	p.A2558A	DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2558	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAATTTGCTGACATGATCT	0.478												
TULP1	7287	broad.mit.edu	37	6	35480607	35480607	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:35480607T>C	uc003okv.4	-	0	41	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	10					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCCACACCTCTCGGAGGGT	0.637												
TCTE1	202500	broad.mit.edu	37	6	44255398	44255398	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:44255398C>T	uc003oxi.2	-	1	321	c.165G>A	c.(163-165)agG>agA	p.R55R	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATATTGGCCCTGGGATGTG	0.547												
PTCHD4	442213	broad.mit.edu	37	6	47846160	47846160	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:47846160A>G	uc011dwm.2	-	2	2454	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P	PTCHD4_uc011dwn.2_Missense_Mutation_p.L554P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	807						integral to membrane	hedgehog receptor activity										GAAAAACGTTAGGAACACAGG	0.443												
MLIP	90523	broad.mit.edu	37	6	53986287	53986287	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:53986287T>A	uc011dxa.2	+	1	172	c.139T>A	c.(139-141)Ttt>Att	p.F47I	MLIP_uc003pcf.2_Missense_Mutation_p.F36I|MLIP_uc003pcg.4_Missense_Mutation_p.F36I|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	36						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GATCTTCACATTTGTCCCCAC	0.413												
LMBRD1	55788	broad.mit.edu	37	6	70411373	70411373	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:70411373T>A	uc003pfa.3	-	10	1321	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	349					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S349C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTGGATTACTCAGGTTAGCT	0.294												
SIM1	6492	broad.mit.edu	37	6	100838922	100838922	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:100838922G>C	uc003pqj.4	-	10	2083	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R	SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	539	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433												
AIM1	202	broad.mit.edu	37	6	106968654	106968654	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:106968654C>T	uc003prh.3	+	1	3259	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	783							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGACCCAAACGTGCATCTGC	0.468												
AKD1	221264	broad.mit.edu	37	6	109993127	109993127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:109993127delT	uc003ptn.2	-	4	403	c.326delA	c.(325-327)cacfs	p.H109fs	AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	109					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CATACCAAAGTGACAGACTTC	0.383												
RFX6	222546	broad.mit.edu	37	6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:117203548delC	uc003pxm.3	+	3	586	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	175					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413												
HOXA9	3205	broad.mit.edu	37	7	27204781	27204781	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:27204781G>A	uc003syt.3	-	0	369	c.296C>T	c.(295-297)gCg>gTg	p.A99V	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	99							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCCGCCGCCGCCACGGGCGC	0.721			T	"""NUP98, MSI2"""	AML*							
OGDH	4967	broad.mit.edu	37	7	44714133	44714133	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:44714133C>T	uc003tln.3	+	6	1071	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGTGGACTACGTGATCATGG	0.562												
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
NPTX2	4885	broad.mit.edu	37	7	98254345	98254345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:98254345T>A	uc003upl.2	+	2	932	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	252	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTTCACCATCTGCCTGTGG	0.592												
LAMB4	22798	broad.mit.edu	37	7	107706294	107706294	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:107706294G>A	uc010ljo.1	-	20	2833	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	917	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGCTTGAGGGATCATCTGGA	0.428												
MET	4233	broad.mit.edu	37	7	116398608	116398608	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:116398608C>A	uc003vij.3	+	8	2385	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	733	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACCGAGAGACAAGCATCTTC	0.368			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)			
MSR1	4481	broad.mit.edu	37	8	16021738	16021738	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:16021738C>T	uc010lsu.3	-	4	771	c.707G>A	c.(706-708)cGt>cAt	p.R236H	MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	218					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTGTAAACACGCTCCTCTAA	0.338												
ZNF395	55893	broad.mit.edu	37	8	28210755	28210755	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:28210755C>T	uc003xgq.3	-	4	842	c.754G>A	c.(754-756)Gat>Aat	p.D252N	ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	252					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAGCCATGATCAGTTTGGGGA	0.592												
FER1L6	654463	broad.mit.edu	37	8	125110059	125110059	+	Silent	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:125110059A>G	uc003yqw.3	+	36	5024	c.4818A>G	c.(4816-4818)gaA>gaG	p.E1606E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1606	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAACACTGAAGATGTCATTT	0.423												
NFIB	4781	broad.mit.edu	37	9	14155894	14155894	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:14155894T>A	uc022bdo.1	-	4	1152	c.617_splice	c.e4-1	p.G206_splice	NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	206					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CAAGGTAACCTGAAAATAAAT	0.274			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""							
ADAMTSL1	92949	broad.mit.edu	37	9	18777209	18777209	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:18777209C>G	uc003zne.4	+	18	3134	c.2982C>G	c.(2980-2982)acC>acG	p.T994T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	994						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGCAGACCCACAAACACC	0.687												
FAM108B1	51104	broad.mit.edu	37	9	74485080	74485080	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:74485080A>G	uc004ail.3	-	2	1168	c.566T>C	c.(565-567)aTt>aCt	p.I189T	FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	189						extracellular region	hydrolase activity	p.V188D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AGAATGAAGAATAACAGCAGC	0.423												
TMC1	117531	broad.mit.edu	37	9	75406910	75406910	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:75406910C>T	uc004aiz.1	+	15	1873	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	445					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTACTGGGACGCATTTTTGC	0.393												
GRIN3A	116443	broad.mit.edu	37	9	104432454	104432454	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:104432454T>G	uc004bbp.2	-	2	2841	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T	GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	747					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGCCCAAAGGTTCATTAGAAA	0.433												
MUSK	4593	broad.mit.edu	37	9	113445003	113445003	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:113445003A>T	uc022blv.1	+	1	263	c.129A>T	c.(127-129)gaA>gaT	p.E43D	MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	43	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TAGTTGAAGAAGTGGCTACTT	0.378												
COL4A5	1287	broad.mit.edu	37	X	107827754	107827754	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:107827754T>C	uc022ccg.1	+	18	1234	c.1032_splice	c.e18+1	p.L344_splice	COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	344	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACTTGTAAGTTTT	0.343									Alport syndrome with Diffuse Leiomyomatosis			
AFF2	2334	broad.mit.edu	37	X	147743983	147743983	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:147743983C>T	uc004fcp.3	+	2	1214	c.735C>T	c.(733-735)gcC>gcT	p.A245A	AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	245					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAATTCGCCGTGCAAGCGC	0.458												
MAGEA12	4111	broad.mit.edu	37	X	151900520	151900520	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:151900520C>A	uc022chj.1	-	0	281	c.281G>T	c.(280-282)gGg>gTg	p.G94V	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	94										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCTTCCTGTTC	0.547												
ARHGAP4	393	broad.mit.edu	37	X	153184317	153184317	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:153184317C>T	uc004fjk.2	-	6	1059	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTCAAAGCGCAGCGGGGG	0.617												
