Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MKI67	4288	broad.mit.edu	37	10	129906236	129906236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:129906236G>A	ENST00000368654.3	-	13	4243	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S	MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1290	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGCTGATGGCATTAGATTC	0.488000													9	1184					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490662	48490662	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48490662T>C	ENST00000273861.4	+	3	1239	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	340						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTAGTCAGAATGTGCAGCTCT	0.468000													4	193					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19018058	19018058	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:19018058T>C	ENST00000379878.3	-	24	2444	c.2203A>G	c.(2203-2205)Acc>Gcc	p.T735A	GPR64_ENST00000356606.4_Missense_Mutation_p.T737A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	751					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGATGATGGTCACAACCACA	0.453000													5	175					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150237049	150237049	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:150237049C>A	ENST00000369111.4	+	11	1974	c.1004C>A	c.(1003-1005)aCt>aAt	p.T335N		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	335						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCACGACTGAGGCATAA	0.478000													39	169					4.90955e-16	6.34151e-16	1	1	0
SLC9A9	285195	broad.mit.edu	37	3	143292951	143292951	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:143292951C>T	ENST00000316549.6	-	8	1187	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	327					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGCCTCGGCAGACAGGAAG	0.532000													5	91					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60773849	60773849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60773849C>T	ENST00000370823.3	+	5	646	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TACCCCTGGACAGCCAGGACA	0.627000													5	58					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839661	150839661	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:150839661C>T	ENST00000397238.2	+	16	2213	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	702	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AATGCCCTCGCCAACAGCGTC	0.667000													17	37					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71208625	71208625	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71208625G>A	ENST00000319023.2	+	19	2049	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S|NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	621	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAAACTCCTCGGCATGTGGAG	0.547000													8	569					0	0	1	0	0
TMEM42	131616	broad.mit.edu	37	3	44906548	44906548	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44906548T>C	ENST00000302392.4	+	3	412	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	119						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CTGGGCTATGTGCTGTATGGA	0.557000													6	476					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135158714T>C	ENST00000372169.2	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L			Q7Z333	SETX_HUMAN	senataxin	2161					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478000													48	126					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150859002	150859002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150859002G>T	ENST00000243389.3	+	10	1334	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	371					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CGAGCACTGTGAGTTAGTGGT	0.527000													20	467					2.21704e-12	2.8143e-12	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012468	151012468	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:151012468A>T	ENST00000260843.4	-	3	1030	c.566T>A	c.(565-567)aTc>aAc	p.I189N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	189						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGTCATGGATATTGTCCTC	0.448000													5	489					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917735	2917735	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:2917735C>A	ENST00000306908.5	+	4	1264	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAAGCCTTCACTTGGT	0.438000													45	140					2.18419e-29	2.91721e-29	1	1	0
FDX1	2230	broad.mit.edu	37	11	110327646	110327646	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:110327646A>G	ENST00000260270.2	+	3	553	c.315A>G	c.(313-315)gcA>gcG	p.A105A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	105	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTCAGGTGCATGTGAGGGAA	0.418000													6	349					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458000													7	233					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477948	88477948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:88477948G>T	ENST00000267549.3	+	2	1315	c.757G>T	c.(757-759)Gag>Tag	p.E253*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	253					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTTTAGAGCATGCTGT	0.383000													5	252					1.23904e-05	1.42538e-05	1	1	0
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303000													4	49					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	BLK_ENST00000529894.1_Silent_p.G182G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	253	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607000													7	58					0.335167	0.337459	1	1	0
MYL1	4632	broad.mit.edu	37	2	211163200	211163200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:211163200C>T	ENST00000352451.3	-	3	395	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MYL1_ENST00000341685.4_Missense_Mutation_p.G39D|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	83	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGGATTTGTGCCCAGAGCTCG	0.463000													4	168					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345617	23345617	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23345617G>T	ENST00000338121.5	+	2	674	c.597G>T	c.(595-597)aaG>aaT	p.K199N	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	199					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCCACCGAAGAAGTCCAAGG	0.527000													6	272					0.00307968	0.00333443	1	1	0
OR52B6	340980	broad.mit.edu	37	11	5602518	5602518	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5602518G>T	ENST00000345043.2	+	1	412	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCCATGGCCTTTGACCG	0.522000													37	322					9.80977e-26	1.29261e-25	1	1	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													4	35					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48523136	48523136	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48523136C>A	ENST00000537810.1	-	55	8222	c.7618G>T	c.(7618-7620)Gtg>Ttg	p.V2540L	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2540					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTGAAGCACTTCCTCTGTT	0.488000													7	351					0.00307968	0.00333443	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110777203	110777203	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:110777203G>A	ENST00000395494.2	+	11	2019	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M	ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	513					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAAGATGTTTGTGAAGGCAAG	0.373000													3	45					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463969	66463969	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66463969G>A	ENST00000533211.1	-	21	4388	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	SPTBN2_ENST00000309996.2_Silent_p.L1353L|SPTBN2_ENST00000529997.1_Silent_p.L1353L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1353					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCGACACCAGGGCTTTCAGC	0.577000													5	757					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213196	9213196	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9213196C>A	ENST00000305456.2	-	1	786	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGGTGAGACCCACAGGTGGAA	0.473000													7	186					0.00448238	0.00483539	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16254213	16254213	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:16254213G>A	ENST00000339732.5	+	6	1838	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	GALNT15_ENST00000437509.1_Silent_p.L445L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGACCTGGCTGGGGTCATTCA	0.562000													6	796					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	326										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423000													9	877					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632411	67632411	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:67632411C>T	ENST00000272342.5	+	5	2727	c.2597C>T	c.(2596-2598)gCt>gTt	p.A866V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	866						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CTGGAGGAAGCTGTTGGACAG	0.333000													3	36					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246727	7246727	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7246727G>A	ENST00000158762.3	+	6	580	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	125	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGGCTCGCCGGGATTTCTGG	0.632000													4	177					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722041	56722041	+	Missense_Mutation	SNP	G	G	A	rs143838622		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56722041G>A	ENST00000425394.2	-	4	930	c.554C>T	c.(553-555)aCt>aTt	p.T185I	PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	185					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCCTGGACAGTGTTAAGATC	0.507000													5	376					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42788641	42788641	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:42788641A>T	ENST00000379274.2	+	25	3035		c.e25-1		DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000337343.4_Splice_Site			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTTGCTTTTAGGATATGTGA	0.358000													5	147					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380960	3380960	+	Silent	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:3380960A>T	ENST00000354599.6	-	4	1166	c.1062T>A	c.(1060-1062)acT>acA	p.T354T	ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000399602.4_Silent_p.T426T|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	426				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTATGTTTAGTAAGGTCTG	0.433000													6	330					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758861	55758861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:55758861C>T	ENST00000395863.3	-	4	1380	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					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)			CCCCGTGGACCGGATGCTGCG	0.637000													5	776					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749927	56749927	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56749927G>A	ENST00000314128.4	-	3	297	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	92					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGAATGTCCCGGCAGAATTTC	0.512000													6	433					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820076	43820076	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43820076C>A	ENST00000382031.1	+	5	7150	c.7119C>A	c.(7117-7119)tcC>tcA	p.S2373S	MAP1A_ENST00000300231.5_Silent_p.S2135S|MAP1A_ENST00000399453.1_Silent_p.S2135S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2135						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTATGGGGTCCCCCACATTAT	0.577000													4	97					0.27861	0.281478	1	1	0
MGP	4256	broad.mit.edu	37	12	15038693	15038693	+	Silent	SNP	G	G	A	rs142282008		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:15038693G>A	ENST00000539261.1	-	1	167	c.33C>T	c.(31-33)gcC>gcT	p.A11A	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	11					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CCGCTAAGGCGGCCAGGATGG	0.478000													4	203					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630070	67630070	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:67630070C>A	ENST00000272342.5	+	4	636	c.506C>A	c.(505-507)gCa>gAa	p.A169E	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	169						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCCAGTGTAGCAAAAGGAAAA	0.353000													7	66					0.0381472	0.0396974	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604589	140604589	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140604589C>A	ENST00000239449.4	+	1	1512	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V	PCDHB14_ENST00000515856.2_Silent_p.V351V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTTGGTCTCCATCAACG	0.657000													3	79					0.184627	0.188467	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76183611	76183611	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:76183611A>T	ENST00000529032.1	+	7	835	c.835A>T	c.(835-837)Att>Ttt	p.I279F	C11orf30_ENST00000533248.1_Missense_Mutation_p.I293F|C11orf30_ENST00000525038.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524767.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524490.1_Missense_Mutation_p.I280F|C11orf30_ENST00000525919.1_Missense_Mutation_p.I280F|C11orf30_ENST00000343878.3_Missense_Mutation_p.I279F|C11orf30_ENST00000334736.3_Missense_Mutation_p.I279F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	279	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCTTAGGTTATTATAGTCAC	0.333000													6	275					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440676	145440676	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145440676G>A	ENST00000369317.4	+	6	1210	c.876G>A	c.(874-876)ctG>ctA	p.L292L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	292					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGACCTGCCCCTGGTAA	0.498000													8	116					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350146	30350146	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:30350146G>T	ENST00000359358.4	-	2	847	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	137	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCGAGCACCAGGCGCAGCCCG	0.657000													4	136					0.000602214	0.000662999	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379606	154379606	+	Missense_Mutation	SNP	G	G	T	rs147606989	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:154379606G>T	ENST00000406326.1	+	6	1277	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGGCTGGAGGATTGCAGGAG	0.562000													32	1050					1.36565e-18	1.77957e-18	1	1	0
MMS22L	253714	broad.mit.edu	37	6	97599721	97599721	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:97599721G>T	ENST00000275053.4	-	23	3673	c.3408C>A	c.(3406-3408)aaC>aaA	p.N1136K	MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1136					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTATTGCAGGTTCTCTGTGG	0.438000													150	376					1.06673e-69	1.468e-69	1	1	0
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338000													5	202					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445694	10445694	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:10445694A>T	ENST00000326756.3	-	3	2697	c.2259T>A	c.(2257-2259)aaT>aaA	p.N753K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGTTTTCCTATTACTGCCAT	0.453000													6	472					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089935	20089935	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089935G>A	ENST00000396085.1	+	22	5335	c.4974G>A	c.(4972-4974)ctG>ctA	p.L1658L	NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000396087.3_Silent_p.L1714L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000311043.8_Silent_p.L722L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1714	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACCCAGCTGACAGCAAATG	0.512000													15	84					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952163	124952163	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124952163C>A	ENST00000360647.4	-	9	1892	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H	ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	469					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTTCAAAAACTGCATGGCAT	0.443000													13	304					1.49906e-05	1.72114e-05	1	1	0
KANK1	23189	broad.mit.edu	37	9	738458	738458	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000382293.3_Silent_p.S1011S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1169S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527000													6	899					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:25611305G>T	ENST00000330688.4	+	4	926	c.505G>T	c.(505-507)Gag>Tag	p.E169*	RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488000													5	80					1.23904e-05	1.42538e-05	1	1	0
ZP2	7783	broad.mit.edu	37	16	21209092	21209092	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21209092G>A	ENST00000574002.1	-	19	2572	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	697					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTACCTCGTGAGCCAACCTC	0.473000													9	518					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													3	63					0.184627	0.188467	1	1	0
IQCH	64799	broad.mit.edu	37	15	67677314	67677314	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:67677314C>T	ENST00000335894.4	+	11	1479	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	IQCH_ENST00000546225.1_Silent_p.N219N|IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	471										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCGATTTCAACACACAGCAGA	0.418000													4	245					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93542882	93542882	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:93542882G>T	ENST00000251871.3	+	11	1871		c.e11-1		MED17_ENST00000533367.1_Splice_Site	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCATTCACAGATGTCACAGC	0.463000													11	153					1.08611e-07	1.2976e-07	1	1	0
CNOT7	29883	broad.mit.edu	37	8	17102635	17102635	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:17102635G>T	ENST00000361272.4	-	2	325	c.27C>A	c.(25-27)agC>agA	p.S9R	CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	9					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AAATTCTTTGGCTATGATCTA	0.383000													14	83					3.45872e-05	3.9404e-05	1	1	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000													6	726					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14900719	14900719	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:14900719C>A	ENST00000532378.1	-	5	1426	c.572G>T	c.(571-573)cGa>cTa	p.R191L	CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	424					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GTCCAGAAATCGCTCAGGATG	0.403000													61	255					3.28615e-30	4.39897e-30	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53560368	53560368	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:53560368T>A	ENST00000342160.3	-	83	13484	c.13027A>T	c.(13027-13029)Aat>Tat	p.N4343Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4343	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGATTAAAACTAAGG	0.507000													5	163					0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133985015	133985015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:133985015T>A	ENST00000378509.4	-	7	787		c.e7-2			NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CCCCAATACCTAAAAAACAAA	0.378000													7	250					0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386955	187386955	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:187386955C>T	ENST00000287641.3	-	2	356	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	83					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCAGCTCAAGCCTCATTTCAT	0.517000													11	1405					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013287	57013287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:57013287G>T	ENST00000370706.4	+	10	2648	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCATGATCCTGAGAGTGCACA	0.423000													3	63					0.004672	0.0050124	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592000													9	29					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107050819	107050819	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:107050819C>A	ENST00000409886.3	-	15	2157	c.2070G>T	c.(2068-2070)agG>agT	p.R690S	RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	690					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCTGCCTTCCTGTGAAAAA	0.368000													5	60					0.248553	0.251975	1	1	0
DGKI	9162	broad.mit.edu	37	7	137237231	137237231	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:137237231C>T	ENST00000453654.1	-	20	1670	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	677	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATCCACTTGCATGGGGATGG	0.517000													8	821					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													10	109					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													12	215					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101294527	101294527	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:101294527G>T	ENST00000342624.5	-	7	937	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	208						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATACTCAGCAGCACCCAGAAG	0.502000													40	152					4.45467e-35	6.01789e-35	1	1	0
SOGA2	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:8825455C>A	ENST00000359865.3	+	15	4089	c.3947C>A	c.(3946-3948)aCg>aAg	p.T1316K	SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1626																	GGGTCCCGGACGATGGGGACC	0.612000													5	26					0.0215528	0.0225882	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	864					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488000													4	130					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471128	4471128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:4471128G>A	ENST00000325719.4	+	1	604	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGCTGTGGTGAGGCTGGC	0.522000													5	400					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													10	957					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152081372G>A	ENST00000368804.1	-	2	4320	c.4321C>T	c.(4321-4323)Cgc>Tgc	p.R1441C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTCCTGGCGGCGCACCTGC	0.577000											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	4	120					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45000995	45000995	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:45000995C>T	ENST00000429094.2	-	15	2124	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	NELL2_ENST00000437801.2_Silent_p.V590V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000549027.1_Silent_p.V539V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	540	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAGGCACACACATTAGCGG	0.383000													23	71					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535099	110535099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:110535099G>T	ENST00000378402.5	+	75	12414	c.12310G>T	c.(12310-12312)Gta>Tta	p.V4104L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4104					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGCCTTCGGTAAAGGCAAC	0.458000										HNSCC(38;0.096)			11	69					3.99206e-14	5.11157e-14	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38941494	38941494	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38941494C>T	ENST00000302328.3	-	13	2111	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R638H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	638					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCAGCCTCGGCGAAAGTAGTG	0.423000													4	183					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097418	124097418	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:124097418C>T	ENST00000422452.2	-	1	248	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM1_ENST00000371130.3_Missense_Mutation_p.R62K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTCCTCTTTCTACTCTGGCT	0.368000													5	321					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61					2.0095e-06	2.36719e-06	1	1	0
NUP188	23511	broad.mit.edu	37	9	131733230	131733230	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:131733230G>T	ENST00000372577.2	+	11	1127	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	369					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCAGTGGGGGAAATGATGTG	0.488000													19	377					3.62473e-10	4.48523e-10	1	1	0
FYB	2533	broad.mit.edu	37	5	39153708	39153708	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:39153708T>A	ENST00000351578.6	-	3	1326		c.e3-2		FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGCTAGTACCTAAGAAGCAAA	0.423000													5	168					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128381	90128381	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:90128381T>C	ENST00000407825.1	-	7	849	c.212A>G	c.(211-213)gAg>gGg	p.E71G	PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	277	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AATTCGGCCCTCATAGGGGCC	0.557000													5	669					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253426	65253426	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:65253426C>A	ENST00000455586.2	-	2	428	c.302G>T	c.(301-303)aGc>aTc	p.S101I	VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I|VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	101	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTGCTCAATTGGAG	0.532000													8	408					1.76689e-08	2.12822e-08	1	1	0
PRC1	9055	broad.mit.edu	37	15	91517866	91517866	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:91517866T>C	ENST00000361188.5	-	10	2510	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	PRC1_ENST00000442656.2_Silent_p.A392A|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000361919.3_Silent_p.A433A			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	433	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCATTGTTCTGCCACATACT	0.433000													33	4648					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962726	69962726	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:69962726T>C	ENST00000305231.7	+	1	534	c.488T>C	c.(487-489)cTa>cCa	p.L163P	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	163					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCTGAGCTATTTAACATA	0.383000													36	351					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809327	26809327	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:26809327G>T	ENST00000381340.3	-	19	2763	c.2347C>A	c.(2347-2349)Ctc>Atc	p.L783I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	783					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGCATGTGGAGCATGAGGCGA	0.552000													10	361					9.70103e-10	1.19538e-09	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:168289893A>T	ENST00000366806.2	+	7	1039		c.e7-1		MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328000			T	MLL	AL								6	63					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364920	53364920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:53364920A>G	ENST00000229416.6	-	15	2108	c.1625T>C	c.(1624-1626)cTt>cCt	p.L542P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	542					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CATGTTTTCAAGGTAAGAGTT	0.428000													5	436					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154999	111154999	+	Missense_Mutation	SNP	G	G	A	rs146857088		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:111154999G>A	ENST00000280325.4	+	3	353	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	69										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGAGACTACCGGCCTCCGGCG	0.692000													4	201					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920900	57920900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57920900G>T	ENST00000355673.3	+	7	2328	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	658	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGCTTGGGAGACCTGTCCCC	0.637000													7	15					6.5536e-12	8.28341e-12	1	1	0
NSA2	10412	broad.mit.edu	37	5	74065165	74065165	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:74065165T>A	ENST00000296802.5	+	3	687	c.318T>A	c.(316-318)atT>atA	p.I106I	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	106	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCAATATGATTAAACAGAAAA	0.373000													8	439					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595825	38595825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38595825G>T	ENST00000413689.1	-	27	4951	c.4758C>A	c.(4756-4758)taC>taA	p.Y1586*	SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1586					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTTGGTGAAGTAGTAGTGGC	0.532000													50	425					7.34454e-26	9.69941e-26	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168295	10168295	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:10168295T>C	ENST00000396502.1	+	5	777	c.649T>C	c.(649-651)Tgg>Cgg	p.W217R	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGTTGGTTCTGGGAAGATGG	0.418000													4	261					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24881964	24881964	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:24881964A>G	ENST00000313367.2	-	13	1786	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000352860.1_Silent_p.T414T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	445					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAGGGAGTCAGTGATGGAGA	0.383000													9	662					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824601	102824601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102824601G>A	ENST00000370200.5	+	5	1165	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	280					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	p.G280D(1)		endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AACTCTACAGGCATCCCCCAG	0.557000													5	626					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369159	139369159	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139369159G>A	ENST00000313050.7	-	1	2982	c.2909C>T	c.(2908-2910)gCa>gTa	p.A970V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	792	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGCCGTGTGCAGGTGGAAC	0.493000													19	17					0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166829540	166829540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:166829540G>T	ENST00000367874.4	-	6	668	c.575C>A	c.(574-576)tCa>tAa	p.S192*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	192					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTTCCTTCTTGACACAACTGA	0.368000													12	92					2.61681e-11	3.27937e-11	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85468686	85468686	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:85468686G>A	ENST00000316356.4	-	2	647	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	28	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTTCTTCGGCCCTCTTCAG	0.478000													12	1018					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636336	42636336	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:42636336G>A	ENST00000315323.3	+	1	1412	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	427					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.G427D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGTTCATCGGCACGTCCTTC	0.642000													3	68					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028864	37028864	+	Missense_Mutation	SNP	G	G	T	rs147158965	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:37028864G>T	ENST00000358047.3	+	1	2433	c.2381G>T	c.(2380-2382)cGt>cTt	p.R794L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	794										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGTCGAGTGTCC	0.622000													6	64					3.35478e-16	4.34278e-16	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33355682	33355682	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:33355682G>A	ENST00000023064.4	-	3	279	c.87_splice	c.e3-1	p.L30_splice	SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	30					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATGAGGCCCAGCTGGGTGTGG	0.647000													6	286					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532655	113532655	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:113532655A>G	ENST00000257600.3	+	6	1792	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	430					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGCTTCGGCACAAGGGCGTG	0.652000													8	137					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20346399	20346399	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:20346399C>A	ENST00000338910.4	-	2	816	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	219	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GCAAGAATGCCCCATCACCAC	0.423000													75	616					6.5209e-17	8.45993e-17	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31282301	31282301	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:31282301G>A	ENST00000544665.3	+	6	525	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	152	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAGTGACATTGCCTTCTTGAT	0.438000													19	1180					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96460276	96460276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:96460276G>T	ENST00000274382.4	-	2	435	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	47										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ACTTGGGAATGCAGCCTTCTG	0.488000													10	270					1.33987e-11	1.68629e-11	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367240	128367240	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:128367240C>T	ENST00000389524.4	+	23	3027	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACATCCGGCGGCCCCTCCG	0.587000													3	54					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													10	112					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4628042	4628042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:4628042C>A	ENST00000261250.3	-	7	820	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	245				E -> G (in Ref. 2; CAE46058).						NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACTTTAATTTCCTCACTAAAA	0.299000													9	35					0.335167	0.337459	1	1	0
GUF1	60558	broad.mit.edu	37	4	44696433	44696433	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:44696433G>T	ENST00000281543.5	+	14	1812	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	540					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTAGTTTTGATTACGAAGA	0.343000													4	44					2.56e-06	3.00367e-06	1	1	0
YTHDF2	51441	broad.mit.edu	37	1	29069235	29069235	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29069235C>G	ENST00000373812.3	+	4	815	c.453C>G	c.(451-453)agC>agG	p.S151R	YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	151					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATATAGTAGCAATTATGCTT	0.448000													203	129					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25138782	25138782	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:25138782A>G	ENST00000320152.6	-	9	697	c.669T>C	c.(667-669)taT>taC	p.Y223Y	PRTFDC1_ENST00000376378.1_3'UTR	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	223					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TTTAGACTCGATATTTTTCTT	0.398000													4	335					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171394541	171394541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:171394541C>T	ENST00000342215.6	-	16	1866	c.1751G>A	c.(1750-1752)tGg>tAg	p.W584*	PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V|PLD1_ENST00000356327.5_Silent_p.V655V			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTGACGTGCCACATCACGAG	0.542000													53	512					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48523234T>A	ENST00000537810.1	-	55	8126		c.e55-2		FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373000													13	210					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379738	154379738	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:154379738C>T	ENST00000406326.1	+	6	1409	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCTCACCCCGGGGATAAT	0.592000													6	951					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169185	113169185	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113169185G>A	ENST00000295872.4	-	15	2580	c.2321C>T	c.(2320-2322)aCt>aTt	p.T774I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	774					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACCAACCAGTCCATGCTCT	0.373000													4	128					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65955683	65955683	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:65955683T>A	ENST00000321892.4	+	26	8392	c.8331T>A	c.(8329-8331)atT>atA	p.I2777I	BPTF_ENST00000424123.3_Silent_p.I2495I|BPTF_ENST00000306378.6_Silent_p.I2651I|BPTF_ENST00000335221.5_Silent_p.I2634I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2777					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTGAAAATTAAGAAAGAAA	0.488000													5	115					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799370	5799370	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5799370C>A	ENST00000317093.2	-	1	527	c.495G>T	c.(493-495)atG>atT	p.M165I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAAAGGAATCATCAGCAATA	0.463000													5	347					0.0215528	0.0225882	1	1	0
STAT6	6778	broad.mit.edu	37	12	57500503	57500503	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57500503G>T	ENST00000300134.3	-	5	776	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	STAT6_ENST00000454075.3_Missense_Mutation_p.L151M|STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	151					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCTTCTGCAGGGCTTCTCGG	0.577000													38	386					1.69475e-38	2.30002e-38	1	1	0
POC1B	282809	broad.mit.edu	37	12	89890946	89890946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:89890946A>T	ENST00000313546.3	-	3	401		c.e3+1		POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron	NM_172240.2	NP_758440.1			POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTTCTCTTACTTATCAGGA	0.453000													6	156					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57932141	57932141	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:57932141C>T	ENST00000307658.7	+	4	1550	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S427S			P17021	ZNF17_HUMAN	zinc finger protein 17	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACACTTCCACACTCATTA	0.383000													4	165					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961602	68961602	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:68961602C>A	ENST00000261778.1	+	13	2271	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CCCATGGAGCCTTTGCCACTG	0.493000													62	351					9.12251e-31	1.22395e-30	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143231	56143231	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56143231T>C	ENST00000302270.1	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCAACTTGGGTTTGATCCTAC	0.423000													5	730					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567000													17	151					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089937	9089937	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9089937T>C	ENST00000397910.4	-	1	2081	c.1878A>G	c.(1876-1878)ctA>ctG	p.L626L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	626	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGTGAGTAGGTGGGTTG	0.577000													6	318					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688351	109688351	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:109688351G>T	ENST00000277225.5	+	3	2447	c.2158G>T	c.(2158-2160)Gtt>Ttt	p.V720F	ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	720					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGATCAATGTTGAGGATGA	0.463000													53	558					2.78941e-39	3.79437e-39	1	1	0
TG	7038	broad.mit.edu	37	8	133923676	133923676	+	Nonsense_Mutation	SNP	C	C	T	rs114157534	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:133923676C>T	ENST00000220616.4	+	19	4097	c.4057C>T	c.(4057-4059)Cag>Tag	p.Q1353*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1353					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCTCTGTGCAGGTGGGTTG	0.478000													5	584					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCTGAAAACTAAAGTAAAAG	0.453000													15	680					0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383000													7	288					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182295	57182295	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:57182295G>T	ENST00000504228.1	+	6	2732	c.2627G>T	c.(2626-2628)gGa>gTa	p.G876V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V			Q6ZU35	K1211_HUMAN	KIAA1211	876										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCACCGGAGACAGCGCG	0.572000													5	46					3.59834e-05	4.06798e-05	1	1	0
ATG13	9776	broad.mit.edu	37	11	46690111	46690111	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:46690111G>C	ENST00000434074.1	+	14	1904	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	ATG13_ENST00000359513.4_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000451945.1_Missense_Mutation_p.E368D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	405					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TGGAGCTGGAGGATACCGATC	0.517000													122	93					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69733351	69733351	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:69733351C>A	ENST00000260363.4	+	18	2429	c.2312C>A	c.(2311-2313)aCt>aAt	p.T771N	KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	771					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATGTACTGGACTGAAGGCAGG	0.468000													12	477					1.62849e-17	2.1174e-17	1	1	0
A2M	2	broad.mit.edu	37	12	9224978	9224978	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:9224978G>T	ENST00000318602.7	-	31	4387	c.4080C>A	c.(4078-4080)agC>agA	p.S1360R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1360					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGATTTGGAAGCTGGTGTGGG	0.438000													10	446					5.50884e-06	6.42516e-06	1	1	0
USP11	8237	broad.mit.edu	37	X	47103931	47103931	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:47103931G>T	ENST00000377107.2	+	14	2179	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	USP11_ENST00000218348.3_Missense_Mutation_p.D652Y			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGATGATGAGGACGATGGGGA	0.567000													7	94					5.68852e-11	7.11368e-11	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460483	1460483	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1460483G>A	ENST00000359801.3	-	2	349	c.313C>T	c.(313-315)Cca>Tca	p.P105S	SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	105	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAATTCAGTGGTTCTGATGTC	0.453000													5	423					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338000													14	1764					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59064302	59064302	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:59064302C>G	ENST00000507116.1	-	1	169	c.34G>C	c.(34-36)Gta>Cta	p.V12L	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000546160.1_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	ACTTCAGGTACTGTTAAAGTG	0.517000													4	311					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57484919	57484919	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57484919G>A	ENST00000300131.3	+	2	473	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	32					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGCCCGAGCCATGGCA	0.607000													3	73					0	0	1	0	0
IFNB1	3456	broad.mit.edu	37	9	21077375	21077375	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:21077375G>A	ENST00000380232.2	-	1	568	c.494C>T	c.(493-495)aCc>aTc	p.T165I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	165					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCTGACTATGGTCCAGGCACA	0.468000													5	601					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33590973	33590973	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:33590973T>C	ENST00000252015.2	-	19	2459	c.2370A>G	c.(2368-2370)atA>atG	p.I790M	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	790					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCCTGTCTATGTCCATGT	0.597000													3	117					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													5	76					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371359	109371359	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:109371359A>T	ENST00000283195.6	+	16	2328		c.e16-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTTTAGTTGCCTGTG	0.323000													7	479					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													9	478					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11701058	11701058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11701058G>T	ENST00000262442.3	+	43	8436	c.8368G>T	c.(8368-8370)Gaa>Taa	p.E2790*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2790	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCACAATGAAGTCAACAC	0.483000													6	202					1.06961e-07	1.28049e-07	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333000													3	15					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883471	12883471	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12883471G>A	ENST00000264827.5	-	6	582	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	138	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GATTCTTCCAGCGTCATGATT	0.572000													5	742					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152112258	152112258	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:152112258C>A	ENST00000331426.5	-	2	155		c.e2-1			NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43								nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTGATGCCTGTAAGAGAA	0.358000													6	58					0.0215528	0.0225882	1	1	0
TSR1	55720	broad.mit.edu	37	17	2227510	2227510	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:2227510G>A	ENST00000301364.4	-	15	3474	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	799					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCCCTTGAGGCACTGTTGAA	0.463000													5	822					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50007990	50007990	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:50007990T>A	ENST00000371564.3	-	11	3030		c.e11-2		NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCATTAACTACAAAAGAAA	0.458000													8	107					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41606987	41606987	+	Missense_Mutation	SNP	C	C	T	rs148198572		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:41606987C>T	ENST00000319349.5	-	11	1311	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	338					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGGGCACCCCGGCGCTGGTA	0.582000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								3	60					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43579536G>A	ENST00000406487.1	-	3	777	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R227C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000													8	427					0	0	1	0	0
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373000													4	143					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27215502	27215502	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:27215502G>T	ENST00000374135.4	-	2	726	c.526C>A	c.(526-528)Ctc>Atc	p.L176I		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	176							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TTGGAAAGGAGGTTGATGTGG	0.537000													4	276					1.23904e-05	1.42538e-05	1	1	0
DLC1	10395	broad.mit.edu	37	8	13251191	13251191	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:13251191T>C	ENST00000276297.4	-	4	1594	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S	DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	395					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCAGATCCTGATTCCAGAT	0.428000													8	310					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678590	100678590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100678590T>C	ENST00000306151.4	+	3	3957	c.3893T>C	c.(3892-3894)cTt>cCt	p.L1298P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1298	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGCACCCTTTTAACAACT	0.478000													4	174					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419442	419442	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:419442G>T	ENST00000354200.4	-	8	1147	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	334					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GGCCTCTGCTGGGCTGATGCC	0.547000													6	105					0.000157383	0.000176569	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166900434	166900434	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:166900434G>T	ENST00000423058.2	-	11	1805	c.1788C>A	c.(1786-1788)agC>agA	p.S596R	SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	596						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTCAAAGGTGCTGTGCTCAT	0.507000													54	417					1.27862e-28	1.70386e-28	1	1	0
PARP3	10039	broad.mit.edu	37	3	51980200	51980200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51980200C>T	ENST00000417220.2	+	10	1605	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCAGGCCCACTCCAAACT	0.587000													14	142					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131958	91131958	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:91131958C>A	ENST00000373094.1	+	2	1564	c.719C>A	c.(718-720)aCt>aAt	p.T240N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAGTGTTACTGATACAAAT	0.428000													4	164					0.00909568	0.0096878	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23509581	23509581	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:23509581C>A	ENST00000296682.3	+	3	254	c.72C>A	c.(70-72)gtC>gtA	p.V24V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	24	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCTAGGTCAAAGATGCCT	0.453000										HNSCC(3;0.000094)			5	770					0.27861	0.281478	1	1	0
PEX7	5191	broad.mit.edu	37	6	137191043	137191043	+	Missense_Mutation	SNP	G	G	A	rs121909152		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:137191043G>A	ENST00000541292.1	+	7	735	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	PEX7_ENST00000318471.4_Missense_Mutation_p.G217R			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	217			G -> R (in RCDP1; could be a polymorphism).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.G217W(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTGGTGACCGGGGCGGTTGA	0.413000													6	170					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21901549	21901549	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:21901549A>G	ENST00000328843.6	+	70	11333	c.11302A>G	c.(11302-11304)Atg>Gtg	p.M3768V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3768					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTATCCTGATGGAGAGCAT	0.517000									Kartagener syndrome				7	456					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													6	142					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307284	14307284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:14307284C>A	ENST00000380959.3	-	2	739	c.266G>T	c.(265-267)cGa>cTa	p.R89L	NFIB_ENST00000397579.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000380953.1_Missense_Mutation_p.R89L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	89					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)		AAAGTCCTCTCGATACTCCTG	0.507000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								33	620					2.32173e-10	2.87895e-10	1	1	0
ATE1	11101	broad.mit.edu	37	10	123503319	123503319	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:123503319G>A	ENST00000369043.3	-	12	1519	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ATE1_ENST00000224652.6_Missense_Mutation_p.A478V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	478					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGCATGATGGCTCTCTTGTG	0.478000													4	421					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53589220	53589220	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53589220C>A	ENST00000267082.5	-	9	1330	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S|ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	367	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCCAACTGCAGACTTAGGA	0.542000													11	549					0.0931896	0.0962959	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7619529	7619529	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7619529C>T	ENST00000221249.6	+	24	2871	c.2440C>T	c.(2440-2442)Ccc>Tcc	p.P814S	PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	853					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGCTGACGCCCTGGACCGT	0.667000													6	242					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279236	74279236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:74279236G>A	ENST00000295897.4	+	8	1032	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	315	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCACTGCATTGCCGAAGTGGA	0.423000													7	182					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324168	158324168	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:158324168T>C	ENST00000368160.3	+	2	60	c.58_splice	c.e2-1	p.A20_splice	CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	20					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCTCTCAGCTCCCCAGGCTC	0.498000													7	538					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358000													5	127					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304364	3304364	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3304364G>A	ENST00000219596.1	-	2	743	c.704C>T	c.(703-705)tCg>tTg	p.S235L	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	235					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CATCTTTCCCGAGGGCAGGTA	0.627000													12	1018					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106857698	106857698	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:106857698C>A	ENST00000286398.7	+	2	321	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	11					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAGGGATTCAAGTCCTATG	0.433000													4	171					0.014758	0.0155779	1	1	0
MBD4	8930	broad.mit.edu	37	3	129152054	129152054	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129152054T>A	ENST00000429544.2	-	6	1625	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	483					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AGGATACTTCTCCAGAAACTT	0.438000								Base excision repair (BER), DNA glycosylases					4	242					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874328	24874328	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:24874328C>T	ENST00000396432.2	-	26	5376	c.4890G>A	c.(4888-4890)ggG>ggA	p.G1630G		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1629	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACAGGCCGCCCTTCACTGA	0.567000													11	482					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089906	20089906	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089906G>A	ENST00000396085.1	+	22	5306	c.4945G>A	c.(4945-4947)Gag>Aag	p.E1649K	NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1705	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCTCCCAGGAGAAAGTTTC	0.522000													29	87					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620562	7620562	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:7620562T>C	ENST00000486284.1	+	8	2243	c.1969T>C	c.(1969-1971)Ttc>Ctc	p.F657L	GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	657					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTGTGTTCTTTCCGGCGAGT	0.458000													4	193					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:189349364G>A	ENST00000264731.3	+	1	149	c.60G>A	c.(58-60)caG>caA	p.Q20Q	TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403000										HNSCC(45;0.13)			6	326					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693790	99693790	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:99693790C>G	ENST00000303887.5	-	11	1847	c.1201_splice	c.e11-1	p.S401_splice	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	401	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TGTGTACTGGCCTGGAAGAGA	0.562000													9	353					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532000													90	58					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627114	43627114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:43627114G>A	ENST00000332857.6	-	4	1601	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		ACTTTATTCTGCGATGCAGGG	0.502000													7	391					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079698	57079698	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:57079698G>A	ENST00000316981.3	-	5	1086	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	203	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACCACCATGTGTCTCCGGACA	0.483000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								89	233					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815053	167815053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167815053C>A	ENST00000367848.1	-	21	2976	c.2479G>T	c.(2479-2481)Gag>Tag	p.E827*	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	919					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCGATCACCTCATTCTCCAGT	0.502000													21	153					1.37878e-21	1.80869e-21	1	1	0
RIMS1	22999	broad.mit.edu	37	6	72678723	72678723	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:72678723A>G	ENST00000264839.7	+	2	202	c.202A>G	c.(202-204)Aaa>Gaa	p.K68E	RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	68	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCCTGCAAAACACCAAG	0.458000													7	276					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043719	117043719	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:117043719G>T	ENST00000371876.1	-	4	3179	c.758C>A	c.(757-759)aCt>aAt	p.T253N	KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	304	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTATTGTCAGTTCTCATGAA	0.418000													5	248					3.59834e-05	4.06798e-05	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460378	1460378	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1460378T>C	ENST00000359801.3	-	2	454	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	140	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATCCGATTTCATTTCTGAG	0.473000													8	1043					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16409650	16409650	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:16409650C>A	ENST00000354981.2	-	14	1580		c.e14-1		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTGACCTTCCTGGGAAGAAA	0.393000													6	232					0.000274275	0.000304808	1	1	0
IL11RA	3590	broad.mit.edu	37	9	34660928	34660928	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:34660928G>A	ENST00000555003.1	+	12	2603	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	416						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GTGGACAGGCGTCCAGGTGAG	0.522000													4	195					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835367	38835367	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38835367C>T	ENST00000449082.2	-	1	134	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	45					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTCTTGGTCCTTCTGCTCCC	0.552000													5	259					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587000													20	705					0	0	1	0	0
MIR518E	574487	broad.mit.edu	37	19	54233120	54233120	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54233120C>T	ENST00000385252.1	+	0	29					NR_030209.1																						TAGAGGGAAGCGCTTTCTGTT	0.428000													5	321					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114341111	114341111	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:114341111C>A	ENST00000407693.2	-	7	878	c.616G>T	c.(616-618)Gcg>Tcg	p.A206S	PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	206					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCAGGAGACGCTTTCTTCAAG	0.358000													5	78					0.00116845	0.00127921	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:198950684C>T	ENST00000428675.1	+	2	2841	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438000													44	86					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133098622G>A	ENST00000515826.1	+	3	190	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552000													13	731					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502915	140502915	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140502915C>T	ENST00000194152.1	+	1	1335	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTCAATGACAACGCCCCCG	0.597000													27	147					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150916465	150916465	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:150916465G>A	ENST00000368963.1	+	7	848	c.743G>A	c.(742-744)gGc>gAc	p.248_248insD	SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000271640.5_Silent_p.R315R|SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron			Q15047	SETB1_HUMAN	SET domain, bifurcated 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTTGCCGGCCACGTGAGT	0.413000													4	111					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917768	160917768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160917768G>T	ENST00000368029.3	-	7	833	c.776C>A	c.(775-777)gCc>gAc	p.A259D	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	259	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGGCGTTGGCTGCTCTCTC	0.458000													7	60					5.4927e-09	6.67052e-09	1	1	0
LIN37	55957	broad.mit.edu	37	19	36245353	36245353	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:36245353G>A	ENST00000301159.9	+	9	1083	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	240							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGATCCTACGAGAGATGTAC	0.587000													3	37					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12902559	12902559	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:12902559C>T	ENST00000361905.4	+	7	1093	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	158	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGTTCTGGCCGGGAATGATT	0.527000													4	274					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249767	238249767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:238249767C>T	ENST00000295550.4	-	38	8244	c.7792G>A	c.(7792-7794)Gga>Aga	p.G2598R	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2598	Nonhelical region.				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)		CTGCCAAATCCACAGGATGGG	0.532000													11	119					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43494079	43494079	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43494079G>T	ENST00000300215.3	-	12	2423	c.1966C>A	c.(1966-1968)Ctg>Atg	p.L656M	EPB42_ENST00000441366.2_Missense_Mutation_p.L626M|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000563128.1_5'UTR			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	626					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCCCTTCCCAGGATGGAGATC	0.552000													31	1223					4.47668e-21	5.85948e-21	1	1	0
IGFL2	147920	broad.mit.edu	37	19	46663969	46663969	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:46663969G>A	ENST00000434646.2	+	4	496	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	58						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGACGCCATCGTGTCCCTGAG	0.577000													4	518					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512000										HNSCC(10;0.0054)			5	231					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150663716	150663716	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150663716T>A	ENST00000335230.3	-	8	1274	c.863A>T	c.(862-864)tAc>tTc	p.Y288F	SLC36A3_ENST00000377713.3_Missense_Mutation_p.Y329F	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	288						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCCCAAGTACAGAACAAA	0.448000													7	394					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:23931741G>T	ENST00000331837.4	-	1	709	c.624C>A	c.(622-624)agC>agA	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637000									Prader-Willi syndrome				9	98					2.27111e-07	2.70786e-07	1	1	0
KIF19	124602	broad.mit.edu	37	17	72345343	72345343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:72345343C>T	ENST00000389916.4	+	10	1206	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	356					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCTCCTGAACGTCTCCTACC	0.617000													5	77					0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16516801	16516801	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:16516801C>T	ENST00000396209.1	+	4	437	c.294C>T	c.(292-294)ccC>ccT	p.P98P	MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P|MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	98					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	p.P98P(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGAGTGGTCCCGACCCCTCTA	0.453000													4	246					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9580692	9580692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:9580692G>A	ENST00000460593.1	+	8	1860	c.722G>A	c.(721-723)tGt>tAt	p.C241Y	CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	278					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCAAGAAGTGTATGGCAGTG	0.373000													4	97					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409923	98409923	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:98409923G>T	ENST00000186436.5	-	30	3708	c.3480C>A	c.(3478-3480)aaC>aaA	p.N1160K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1160						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGAAGGGCGGGTTCGAGGCCT	0.473000													9	44					1.58986e-06	1.87661e-06	1	1	0
MCM2	4171	broad.mit.edu	37	3	127327298	127327298	+	Missense_Mutation	SNP	G	G	A	rs144869999		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:127327298G>A	ENST00000265056.7	+	7	1419	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	392					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGGCTGCCCCGCTCCAAGGAC	0.607000													6	489					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79403540	79403540	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79403540A>T	ENST00000264895.6	+	58	9044		c.e58-1			NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTTCTCTTCTAGTATTGCACC	0.458000													8	1262					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55178153	55178153	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55178153G>A	ENST00000391736.1	+	12	1309	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	332						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCAGGTGCTGCCGTGAAGAA	0.612000													5	475					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581468	82581468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:82581468G>A	ENST00000423517.2	-	5	9138	c.8801C>T	c.(8800-8802)gCa>gTa	p.A2934V	PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2865					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCTCCCTGCGGTTAAATC	0.428000													6	495					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596443	48596443	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:48596443G>A	ENST00000310248.2	-	1	727	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TGAGCACCATGGGGCTGAGAA	0.547000													6	358					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55106130G>A	ENST00000453777.1	+	4	241	c.70_splice	c.e4-1	p.G24_splice	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587000													18	25					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70530595	70530595	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:70530595C>A	ENST00000357887.3	-	3	2589	c.1836G>T	c.(1834-1836)aaG>aaT	p.K612N	SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron	NM_033262.3	NP_150287.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	612	Calx-beta 2.		E -> Q (in a breast cancer sample; somatic mutation).		cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAAGTAATTCTTGTTTTTCT	0.403000													5	545					0.217242	0.220613	1	1	0
CP	1356	broad.mit.edu	37	3	148904372	148904372	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:148904372C>T	ENST00000264613.6	-	11	2274	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTGTCTCTCCGTTCTCCTCT	0.458000													6	316					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139699235	139699235	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139699235C>A	ENST00000338005.6	+	8	849	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	272										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTGGACTTCCCCTCGAACCT	0.642000													3	37					0.00909568	0.0096878	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3090749	3090749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:3090749C>A	ENST00000400569.3	-	27	4249	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	MYOM1_ENST00000356443.4_Nonsense_Mutation_p.E1306*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*			P52179	MYOM1_HUMAN	myomesin 1	1306						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTAGCTTTTCCATGAACATT	0.378000													63	327					5.80444e-35	7.82337e-35	1	1	0
GUF1	60558	broad.mit.edu	37	4	44696434	44696434	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:44696434A>T	ENST00000281543.5	+	14	1813	c.1619A>T	c.(1618-1620)gAt>gTt	p.D540V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	540					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAGTTTTGATTACGAAGAT	0.343000													4	45					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751279	6751279	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:6751279C>A	ENST00000230859.6	+	11	1367	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	413					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACCACTTCCAGAACACTG	0.587000													19	173					6.44725e-10	7.96107e-10	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33373738	33373738	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:33373738A>G	ENST00000303296.4	+	16	3403	c.3098A>G	c.(3097-3099)cAg>cGg	p.Q1033R	HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1033					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGATTAAACCAGCCTTCTGCA	0.403000													7	506					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358000													22	47					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743241	42743241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42743241G>C	ENST00000263805.4	-	2	1486	c.1160C>G	c.(1159-1161)aCa>aGa	p.T387R	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTGTATTCCTGTAGTTATCAA	0.388000													6	848					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519551	52519551	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52519551T>C	ENST00000270649.6	-	5	1844	c.1300A>G	c.(1300-1302)Aaa>Gaa	p.K434E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGAAGCCTTTACCACATTCA	0.418000													4	264					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575768	52575768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:52575768C>A	ENST00000395489.2	-	11	1514	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.R388I	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	380	Required for nuclear localization.				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						GGTGTTACCTCTAACAGAAGG	0.458000													15	129					2.32078e-09	2.8478e-09	1	1	0
IGLV3-19	28797	broad.mit.edu	37	22	23063563	23063563	+	RNA	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:23063563C>A	ENST00000390309.2	+	0	310																											ACACAGCTTCCTTGACCATCA	0.542000													6	129					0.217242	0.220613	1	1	0
ALOX5AP	241	broad.mit.edu	37	13	31330136	31330136	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:31330136C>T	ENST00000380490.3	+	4	395	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	99					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTACTTTGTCGGTTACCTAG	0.448000													4	164					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4910785	4910785	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:4910785G>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGAGTTTCCTGGTGTCCACAG	0.547000											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108791	10108791	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10108791G>A	ENST00000264828.3	-	9	1230	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	382	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCAATCACTGCGGGCTCTCC	0.537000													10	1146					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079650	42079650	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:42079650C>T	ENST00000395925.3	-	7	1099	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	339					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGCACTTGCAGATAAGTGA	0.418000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	182					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784722	11784722	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11784722C>A	ENST00000262442.3	+	55	10866	c.10798C>A	c.(10798-10800)Cag>Aag	p.Q3600K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3600	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACTTGGAGCAGCTGAAGGT	0.587000													14	38					4.7546e-09	5.79806e-09	1	1	0
PPP6C	5537	broad.mit.edu	37	9	127951918	127951918	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:127951918C>A	ENST00000451402.1	-	1	300	c.80G>T	c.(79-81)aGc>aTc	p.S27I	PPP6C_ENST00000415905.1_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	25					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAAATAGGGCTCACCTTCAG	0.632000													38	114					1.81118e-26	2.40267e-26	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112696345	112696345	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112696345G>A	ENST00000550722.1	-	20	3040	c.2645C>T	c.(2644-2646)cCg>cTg	p.P882L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|RP3-521E19.2_ENST00000547401.1_RNA	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGCACCACACGGGGAACAGCC	0.498000													4	462					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103317	71103317	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:71103317G>A	ENST00000393567.2	-	14	1977	c.1827C>T	c.(1825-1827)ggC>ggT	p.G609G	HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000538248.1_Silent_p.G636G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	609										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTTTTATGGCCAAGGCCAT	0.413000													5	204					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52830849	52830849	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:52830849G>A	ENST00000449956.2	+	4	382	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	126	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAAGACGGCCGGCTTGGTCAA	0.517000													3	94					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52979842	52979842	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:52979842C>A	ENST00000293745.2	-	9	1545	c.1460G>T	c.(1459-1461)aGc>aTc	p.S487I	KRT72_ENST00000398066.3_Missense_Mutation_p.S299I|KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	487	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACTGCCACAGCTGCCTTTGGT	0.567000													35	1134					3.01185e-09	3.68811e-09	1	1	0
PTENP1	11191	broad.mit.edu	37	9	33676633	33676633	+	RNA	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:33676633T>C	ENST00000532280.1	-	0	864					NR_023917.1																						AACGATCTCTTTGATGATGGC	0.463000													3	137					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33406139	33406139	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33406139C>T	ENST00000484457.1	+	5	309	c.218C>T	c.(217-219)tCg>tTg	p.S73L	FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S73L|FBXL2_ENST00000538892.1_Missense_Mutation_p.S73L|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	73					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.S73L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GAAAATATCTCGAAGCGATGC	0.438000													7	322					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443000													46	129					6.21074e-16	8.00465e-16	1	1	0
NDUFA1	4694	broad.mit.edu	37	X	119005930	119005930	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:119005930C>T	ENST00000371437.4	+	1	481	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	19					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	TTGTTGATTCCAGGACTGGCT	0.587000													4	119					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437859	42437859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42437859G>C	ENST00000397272.3	-	16	1791	c.1700C>G	c.(1699-1701)gCc>gGc	p.A567G	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGCTGGTGGCAAAGGCGCT	0.647000													4	39					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7682737	7682737	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:7682737A>T	ENST00000256861.6	-	4	459	c.381T>A	c.(379-381)aaT>aaA	p.N127K	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.N127K|ITIH5_ENST00000397145.2_Missense_Mutation_p.N127K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	127	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGTGGTTTTATTCCTTTTCT	0.373000													6	310					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433000													10	75					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985617	140985617	+	Nonstop_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:140985617G>T	ENST00000298296.1	+	8	1931	c.1931G>T	c.(1930-1932)tGa>tTa	p.*644L	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGAGTGATGTCTGAAG	0.537000													5	435					1.23904e-05	1.42538e-05	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120466571	120466571	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:120466571G>T	ENST00000256646.2	-	26	4767	c.4548C>A	c.(4546-4548)aaC>aaA	p.N1516K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1516	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCACAGTGGTTGTCTTTGA	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				13	69					7.93312e-07	9.38275e-07	1	1	0
PHC1	1911	broad.mit.edu	37	12	9086983	9086983	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:9086983A>G	ENST00000433083.2	+	9	2172	c.2027A>G	c.(2026-2028)gAc>gGc	p.D676G	PHC1_ENST00000536844.1_Missense_Mutation_p.D327G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000544916.1_Missense_Mutation_p.D721G			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	721					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAAATGGGTGACTCAAAACCC	0.522000													4	118					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737090	142737090	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:142737090G>C	ENST00000230173.6	+	20	3303	c.2827G>C	c.(2827-2829)Gca>Cca	p.A943P	GPR126_ENST00000296932.8_Missense_Mutation_p.A915P|GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCCTTCTGGCAACCTTTAC	0.428000													8	140					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTCTTCCTTAGTTTACCCTC	0.517000													6	154					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383000													5	66					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35591991	35591991	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:35591991C>T	ENST00000353139.5	-	25	3626	c.3145G>A	c.(3145-3147)Gcc>Acc	p.A1049T	ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1012					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.A954T(1)|p.A1049T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTCGGAGGGCGAATACACAT	0.393000													6	707					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47336769	47336769	+	Splice_Site	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:47336769A>G	ENST00000342922.4	+	27	4449		c.e27-1		MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain						activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCATCAGAATGGACGC	0.473000													3	55					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44101009	44101009	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:44101009G>A	ENST00000272286.2	+	9	1385	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	432	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGACCATCGGCTTCCTCTAT	0.522000													6	770					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:73422349C>A	ENST00000553457.1	+	11	1114	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547000													15	402					8.00594e-06	9.31917e-06	1	1	0
LRBA	987	broad.mit.edu	37	4	151935680	151935680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:151935680G>A	ENST00000535741.1	-	2	588	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F|LRBA_ENST00000357115.3_Missense_Mutation_p.L39F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	39						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATGGGGAGCCCTGGTTTC	0.512000													55	13					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53783446	53783446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:53783446C>T	ENST00000288139.3	+	28	3644	c.3526C>T	c.(3526-3528)Cag>Tag	p.Q1176*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1156					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGTTACATTTCAGGAACAAGG	0.428000													5	97					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27287824	27287824	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:27287824T>C	ENST00000317338.12	-	6	1836	c.1409_splice	c.e6+1	p.R470_splice	SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	470	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCCCTCACCTGTCATCATCC	0.607000													4	534					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413000													8	550					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	129					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863593	4863593	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:4863593G>A	ENST00000573366.1	-	4	968	c.110C>T	c.(109-111)gCt>gTt	p.A37V	SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V|SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V			O75391	SPAG7_HUMAN	sperm associated antigen 7	88						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGTCAGGCCAGCCACTTCCAC	0.557000													3	42					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438000													5	117					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462299	5462299	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5462299C>T	ENST00000380211.1	-	1	445	c.446G>A	c.(445-447)gGc>gAc	p.G149D	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAAGGATGCCCAGACCCAT	0.473000													5	397					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223213	80223213	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:80223213C>A	ENST00000392959.1	-	4	1047	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	LCA5_ENST00000369846.4_Missense_Mutation_p.A146S|LCA5_ENST00000467898.2_Missense_Mutation_p.A146S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	146					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTATTCAGGGCTTTCTCCTGT	0.363000													3	59					1	1	1	1	0
TAF4	6874	broad.mit.edu	37	20	60574157	60574157	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60574157T>G	ENST00000252996.3	-	12	2794	c.2795A>C	c.(2794-2796)gAc>gCc	p.D932A		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	932					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCATATCTGTCGTCATCCTA	0.488000													5	428					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45152365	45152365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:45152365C>A	ENST00000327574.4	+	2	457	c.107C>A	c.(106-108)tCg>tAg	p.S36*	PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000476313.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	0					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TCAGCTTGCTCGTGCTCTCAT	0.493000													3	29					0.115264	0.118483	1	1	0
HSPA2	3306	broad.mit.edu	37	14	65008729	65008729	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:65008729T>C	ENST00000247207.6	+	1	1544	c.1162T>C	c.(1162-1164)Tca>Cca	p.S388P	HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	388					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGCGACAAATCAGAGAATGT	0.602000													3	67					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57743445	57743445	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:57743445G>T	ENST00000302804.7	+	3	335	c.149G>T	c.(148-150)gGc>gTc	p.G50V	AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	50	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		CGTCCCCTGGGCAAGGGGAAA	0.542000													4	77					0.00024832	0.000276485	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249212482	249212482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:249212482C>T	ENST00000355360.4	+	3	1216	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	567										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCCTCTGCCACTCACAGAC	0.552000													7	156					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925316	116925316	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:116925316A>T	ENST00000355044.3	+	7	1130		c.e7-1		ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTGCTTTTAGTTACAATTT	0.328000													4	54					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46835125	46835125	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:46835125C>T	ENST00000262738.3	-	3	4366	c.4367G>A	c.(4366-4368)cGg>cAg	p.R1456Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1456	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCAGGCCCCGGAAGGTGAC	0.642000													4	323					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89334236C>T	ENST00000380265.5	+	12	1559	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443000													16	2057					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473048	42473048	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:42473048A>G	ENST00000545399.1	-	20	2900	c.2747T>C	c.(2746-2748)gTg>gCg	p.V916A	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	903					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAACTCCACCACCTTCCTCTG	0.612000													5	255					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:39885673G>A	ENST00000260356.5	+	19	3236	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTATGCTGGATTTGTCTTT	0.517000													5	577					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7811408	7811408	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7811408C>T	ENST00000315599.7	-	3	138	c.116G>A	c.(115-117)gGc>gAc	p.G39D	CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601256.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	39					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGACCATGGCCAAGACACCC	0.642000													5	352					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79566670	79566670	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:79566670G>A	ENST00000372391.2	-	26	4818	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	DLG5_ENST00000372388.2_Silent_p.L1265L|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1605	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCTGCCAGCCGGTCGTAC	0.597000													3	61					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768273	88768273	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:88768273C>T	ENST00000444431.1	+	0	2873				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGTCCATGGGCTGGTCCAACC	0.567000													14	1001					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85779652	85779652	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:85779652G>T	ENST00000233838.3	-	10	1406	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	442					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	202	1332					2.84368e-68	3.90426e-68	1	1	0
MYRF	745	broad.mit.edu	37	11	61538984	61538984	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61538984C>A	ENST00000278836.5	+	6	849	c.753C>A	c.(751-753)caC>caA	p.H251Q	MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TCCCTACACACCCCTCCAAGA	0.617000													3	9					1	1	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809651	18809651	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:18809651T>C	ENST00000400664.1	+	1	2228	c.2176T>C	c.(2176-2178)Tac>Cac	p.Y726H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	726						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCATCTACTGCGTGGG	0.662000													3	26					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1281_splice	c.e11-1	p.E428_splice	ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483000													4	174					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527000													12	1251					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:26219542G>T	ENST00000335473.7	+	13	2842	c.2592G>T	c.(2590-2592)gaG>gaT	p.E864D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	864	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTATGAGGAGCTGAACA	0.572000													5	423					1.024e-07	1.22838e-07	1	1	0
TTF1	7270	broad.mit.edu	37	9	135266069	135266069	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135266069G>A	ENST00000334270.2	-	7	2176	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	713	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGTTTTTCCCGAACAATTGAT	0.418000													10	962					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939306	14939306	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:14939306T>A	ENST00000313519.5	+	2	690	c.459T>A	c.(457-459)aaT>aaA	p.N153K	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	213					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGGCTTATAATAAAAACCAAC	0.393000													5	89					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204294	9204294	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9204294C>T	ENST00000429566.3	+	1	440	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGTTCGTGGCCATCTGCCAC	0.542000													4	239					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48575226	48575226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48575226C>A	ENST00000537810.1	-	26	3485	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCGAGTGCTTCTTTAATTATG	0.343000													14	74					1.64113e-05	1.8806e-05	1	1	0
AP4B1	10717	broad.mit.edu	37	1	114437917	114437917	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:114437917C>A	ENST00000369569.1	-	10	2270	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	664					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGATGTTCACTACTTGAAGA	0.488000													10	213					1.76689e-08	2.12822e-08	1	1	0
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403000													5	104					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252410	145252410	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:145252410T>C	ENST00000377976.1	-	1	121	c.122A>G	c.(121-123)gAa>gGa	p.E41G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	41										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TGACTCTAATTCCTGCCCATC	0.488000													15	1222					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676360	100676360	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100676360C>G	ENST00000306151.4	+	3	1727	c.1663C>G	c.(1663-1665)Cct>Gct	p.P555A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	555	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTACAACTCCTGAAGGTAC	0.517000													6	492					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154221341	154221341	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:154221341C>A	ENST00000360256.4	-	4	671	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	157	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCAGGACCTGCCAGACATATG	0.448000													4	290					1	1	1	1	0
GNL1	2794	broad.mit.edu	37	6	30520260	30520260	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30520260C>T	ENST00000376621.3	-	8	2053	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	361					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCGATGGTCACCACCCCAT	0.572000													22	189					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587936	128587936	+	Missense_Mutation	SNP	G	G	A	rs144448991		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:128587936G>A	ENST00000402030.2	+	7	965	c.893G>A	c.(892-894)cGc>cAc	p.R298H	IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	298					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGCAAGTGCGCTTCCCCAGC	0.632000													8	34					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342090	65342090	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:65342090C>T	ENST00000402939.2	-	23	4351	c.4352G>A	c.(4351-4353)cGa>cAa	p.R1451Q	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1480					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGTAAGGTCGCCTTCTCTG	0.517000													4	196					0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:161192276G>T	ENST00000594609.1	+	2	211	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000481413.1_5'UTR																							TCTTGATCAGGGGTGTCAGCT	0.507000													9	924					5.18039e-06	6.0661e-06	1	1	0
HYAL1	3373	broad.mit.edu	37	3	50340148	50340148	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:50340148G>A	ENST00000266031.4	-	1	855	c.240C>T	c.(238-240)ggC>ggT	p.G80G	HYAL1_ENST00000320295.8_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	80						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	AGGGGTAGGTGCCCAGCTGGG	0.597000													11	417					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43515433	43515433	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:43515433T>C	ENST00000265351.7	-	19	2282	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	691					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGCATCAACATCTGACAGCAC	0.458000													5	244					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825775	122825775	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122825775A>T	ENST00000358808.2	-	10	2097	c.1943T>A	c.(1942-1944)cTa>cAa	p.L648Q	CLIP1_ENST00000545889.1_Missense_Mutation_p.L349Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L648Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.L659Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L613Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.L613Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	659					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGTGTTTTTAGTTCAGCAAA	0.438000													5	128					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601642	64601642	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:64601642C>A	ENST00000498707.1	-	20	3360	c.3018G>T	c.(3016-3018)tgG>tgT	p.W1006C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1006	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACTTCAGTCCAGGCAGAAT	0.498000													5	418					6.5536e-12	8.28341e-12	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173322742	173322742	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:173322742C>A	ENST00000457714.1	+	3	783	c.354C>A	c.(352-354)ccC>ccA	p.P118P	NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	118					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P118P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGTGTGTCCCCAGAATATCA	0.478000													5	391					0.014758	0.0155779	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66467884	66467884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:66467884C>A	ENST00000273854.3	-	3	985	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	129					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATTTGAGTTCTATGAAGATT	0.423000										TSP Lung(17;0.13)			35	135					1.07637e-12	1.37225e-12	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:78492255C>T	ENST00000377211.4	-	2	876	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	152					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGTCAATGACGATGTGCAGC	0.507000													11	364					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857217	111857217	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:111857217C>T	ENST00000369740.1	+	5	416	c.314_splice	c.e5+1	p.P105_splice	CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	105					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGGGACTGCCCCGTAAGTCTT	0.453000													11	32					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420787	55420787	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55420787T>C	ENST00000594765.1	+	4	564	c.539T>C	c.(538-540)gTg>gCg	p.V180A	NCR1_ENST00000357397.5_Missense_Mutation_p.V73A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGGGCCCTGTGACCACAGCC	0.577000													4	139					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424630	9424630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:9424630A>T	ENST00000378501.2	+	27	2746	c.2731A>T	c.(2731-2733)Att>Ttt	p.I911F	PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	911					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTAGGTATTGAACTTAT	0.313000													4	131					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71691150	71691150	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:71691150T>A	ENST00000254799.6	-	8	1375		c.e8-2		GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Splice_Site|GRSF1_ENST00000502323.1_Splice_Site|GRSF1_ENST00000545193.1_Splice_Site	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1						mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGCAAAAAACTAAACGACAAA	0.443000													6	255					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131896926	131896926	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:131896926C>T	ENST00000286355.5	-	8	4085	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	665					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTAATTTCCTCAGGCCCAGAC	0.438000										HNSCC(32;0.087)			4	258					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677361	219677361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:219677361G>A	ENST00000258415.4	+	4	1160	c.733G>A	c.(733-735)Ggg>Agg	p.G245R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAGATCCATCGGGTTAATGTT	0.542000													5	641					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11137010	11137010	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:11137010G>A	ENST00000358026.2	+	23	3487	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCACTGGCGGCATTGTCCAA	0.592000			"""F, N, Mis"""		NSCLC								3	107					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196343	8196343	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:8196343G>T	ENST00000162391.3	+	4	1600	c.455G>T	c.(454-456)aGa>aTa	p.R152I	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	152					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCGAAAGAGAAGACACCCT	0.483000													5	638					0.0293803	0.0306284	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25304766	25304766	+	RNA	SNP	G	G	A	rs140779859	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:25304766G>A	ENST00000549804.2	+	0	159				SNHG14_ENST00000384733.1_RNA																							GTCGTTCTCAGCGGAACTGAG	0.517000													4	350					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61417421	61417421	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:61417421A>G	ENST00000398571.2	-	78	9934	c.9858T>C	c.(9856-9858)agT>agC	p.S3286S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3286					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAAAGAAGCACTTGCTTTGG	0.408000													8	410					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76276447	76276447	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:76276447G>A	ENST00000263187.3	+	4	758	c.654G>A	c.(652-654)gtG>gtA	p.V218V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	218					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTGTGCTGTGGGGAATTCCA	0.284000								Mismatch excision repair (MMR)					3	52					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76088498	76088498	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:76088498A>G	ENST00000238667.4	+	2	1102	c.746A>G	c.(745-747)cAc>cGc	p.H249R	FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	249					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGCCTACCACATCAGCATC	0.478000													8	783					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128623348	128623348	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:128623348G>T	ENST00000308982.7	+	11	1230	c.1149_splice	c.e11+1	p.K383_splice	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	383						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCATGGTGAAGGTAACCCTGG	0.567000													3	101					0.014758	0.0155779	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620404	7620404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:7620404C>T	ENST00000486284.1	+	8	2085	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	604					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGATCATTGCCACCATCTTT	0.522000													4	122					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158135	38158135	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38158135G>A	ENST00000308059.6	+	28	4069	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1350					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTCAGCCATGAAACTGACTC	0.627000													4	165					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42730412	42730412	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:42730412G>A	ENST00000287777.4	+	4	1573	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K		NM_152393.2	NP_689606.2			kelch-like family member 40																		TTGAGTGGAAGGAGCTGGCAC	0.607000													4	163					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24887048	24887048	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:24887048T>C	ENST00000347898.3	+	6	1095	c.473T>C	c.(472-474)aTc>aCc	p.I158T	SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000424767.2_Intron	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	158					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTCACCAAGATCTCGGTAAGG	0.527000													4	375					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79553848	79553848	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:79553848C>T	ENST00000372391.2	-	31	5579	c.5574G>A	c.(5572-5574)agG>agA	p.R1858R	DLG5_ENST00000372388.2_Silent_p.R1518R|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1858	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCACCTTGTCCCTCAGGTAGA	0.592000													7	838					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92182267	92182267	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:92182267T>A	ENST00000212355.4	-	11	2032		c.e11-2		TGFBR3_ENST00000525962.1_Splice_Site|TGFBR3_ENST00000370399.2_Splice_Site	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TATCACAATCTAAAAGGCAAA	0.423000													9	688					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641944	172641944	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:172641944G>A	ENST00000422440.2	-	18	1914	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	626					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGAAGGTCTGCAATGCGTGA	0.498000													4	81					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088165	9088165	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9088165A>T	ENST00000397910.4	-	1	3853	c.3650T>A	c.(3649-3651)cTg>cAg	p.L1217Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1217	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGGAACCAGGGTGCTTTT	0.502000													7	874					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39910035	39910035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:39910035C>A	ENST00000303538.8	-	11	1752	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	405					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGTTCTTTCCCTTACAAAG	0.363000													4	192					0.000602214	0.000662999	1	1	0
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592000													3	20					0.00024832	0.000276485	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22203096	22203096	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:22203096T>G	ENST00000374695.3	-	22	2814	c.2735A>C	c.(2734-2736)cAc>cCc	p.H912P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	912	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTACTCAGGTGGAAAGAGCC	0.592000													4	17					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004813	248004813	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:248004813G>A	ENST00000355784.2	-	1	441	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGCGGAGTGGGCTGCAGAT	0.602000													4	73					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30071491	30071491	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30071491G>T	ENST00000376734.3	-	9	1225	c.1100C>A	c.(1099-1101)gCt>gAt	p.A367D	TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	367						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GACTTTCCCAGCAGACGAGGC	0.532000													101	300					2.07075e-64	2.83645e-64	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62299309	62299309	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:62299309G>A	ENST00000378024.4	-	5	2854	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	860					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)				GGACATCAATGTCCATTTTGG	0.453000													5	502					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75633083	75633083	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:75633083G>T	ENST00000451157.1	-	7	859	c.690C>A	c.(688-690)caC>caA	p.H230Q	STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	230	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TACCAATGAAGTGACACATGT	0.547000													7	108					5.4927e-09	6.67052e-09	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27276327	27276327	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:27276327C>T	ENST00000360131.4	+	3	432	c.273C>T	c.(271-273)aaC>aaT	p.N91N	AGBL5_ENST00000323064.8_Silent_p.N91N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	91					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGATCAACATTATGAACA	0.542000													3	71					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155758	129155758	+	Silent	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129155758A>T	ENST00000429544.2	-	3	924	c.729T>A	c.(727-729)atT>atA	p.I243I	MBD4_ENST00000249910.1_Silent_p.I243I|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Silent_p.I243I|MBD4_ENST00000507208.1_Silent_p.I243I|MBD4_ENST00000393278.2_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	243					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGTTTTCTTAATTGGGATTC	0.358000								Base excision repair (BER), DNA glycosylases					5	268					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110205834	110205834	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:110205834G>A	ENST00000538780.1	+	3	816	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	34																	GGTGGCCAGCGCCATGCATTC	0.652000													37	3004					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256443	63256443	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:63256443C>T	ENST00000323865.3	-	1	1337	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	368					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGCAGAAGGGCAGAACAAGAG	0.572000													7	567					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145072	58145072	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:58145072A>G	ENST00000257904.6	-	3	637	c.272T>C	c.(271-273)cTg>cCg	p.L91P	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTCAAACACCAGGGTTACCTT	0.532000			Mis			melanoma			Hereditary Melanoma				5	460					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	77818477	77818477	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:77818477T>A	ENST00000372499.1	+	4	583	c.368T>A	c.(367-369)gTa>gAa	p.V123E	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	123	LRRCT.									endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GCCCAGAAAGTAACCAGACAA	0.483000													6	223					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536215	186536215	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:186536215G>T	ENST00000431808.1	-	17	3301	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000498125.1_5'UTR			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	913	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTATGAGATCGGGAAGATGCC	0.443000													5	120					3.59834e-05	4.06798e-05	1	1	0
TMEM33	55161	broad.mit.edu	37	4	41956089	41956089	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:41956089C>A	ENST00000504986.1	+	7	982	c.617C>A	c.(616-618)aCc>aAc	p.T206N	TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N|TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	206						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TCTTGCAGGACCTTATTTAAT	0.343000													4	85					8.12818e-05	9.13645e-05	1	1	0
TRAV13-2	28670	broad.mit.edu	37	14	22386370	22386370	+	RNA	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:22386370G>T	ENST00000390439.2	+	0	8																											ACCCGATGATGGAAGTAGCTC	0.403000													5	76					7.03913e-09	8.53096e-09	1	1	0
FER	2241	broad.mit.edu	37	5	108168555	108168555	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:108168555C>A	ENST00000281092.4	+	4	676	c.292C>A	c.(292-294)Cac>Aac	p.H98N	FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.H98N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	98	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACCTTTACACAGGCTCAC	0.393000													9	483					1.76689e-08	2.12822e-08	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29019452A>T	ENST00000373816.1	+	5	474		c.e5-1		GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403000													6	176					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69026898	69026898	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:69026898C>T	ENST00000383701.3	-	18	2197	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GGTGCTCCCCCAGGGTTGGAT	0.448000													3	35					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129201223	129201223	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:129201223G>T	ENST00000308167.5	-	9	1844	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	489					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGCCAGAAGTTGGGGGAGG	0.657000			T	ERG	AML								3	16					0.004672	0.0050124	1	1	0
BCL9	607	broad.mit.edu	37	1	147095648	147095648	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:147095648G>A	ENST00000234739.3	+	10	3909	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCTAGGAATGGGCATTAATAC	0.383000			T	"""IGH@, IGL@"""	B-ALL								4	398					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270906	84270906	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:84270906C>T	ENST00000568181.1	-	2	306	c.186G>A	c.(184-186)ctG>ctA	p.L62L	KCNG4_ENST00000308251.4_Silent_p.L62L			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	62						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCACGTTGATCAGGATCTCCT	0.642000													40	206					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755343	149755343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:149755343C>T	ENST00000451292.1	+	12	1872	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000394269.3_Silent_p.P588P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000513346.1_Silent_p.P588P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	588					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGGGCCCCCTCAGAAGG	0.612000													9	71					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860131	23860131	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23860131C>A	ENST00000304710.4	-	1	256	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						AGTACTCATCCTTATTAATGA	0.567000													196	1491					8.64784e-51	1.17907e-50	1	1	0
DGKA	1606	broad.mit.edu	37	12	56347133	56347133	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56347133G>T	ENST00000331886.5	+	23	2517		c.e23-1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCCTCCTATAGCACCACAAAA	0.458000													6	838					0.000602214	0.000662999	1	1	0
LMO1	4004	broad.mit.edu	37	11	8248620	8248620	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:8248620A>G	ENST00000335790.3	-	3	762	c.267T>C	c.(265-267)gcT>gcC	p.A89A	LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	89	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TGCTGCAAGCAGCACAGTTCC	0.617000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							10	1178					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31612763C>T	ENST00000404765.2	-	10	1618	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587000													5	322					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359175	145359175	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145359175G>C	ENST00000342960.5	+	72	9150	c.9115G>C	c.(9115-9117)Gtt>Ctt	p.V3039L	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3039										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTTGGCTGTTGACATGGA	0.463000													7	949					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496167	102496167	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:102496167G>A	ENST00000360184.4	+	50	9818	c.9654G>A	c.(9652-9654)ctG>ctA	p.L3218L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3218	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAGAAGAACTGCGTCGTGACT	0.483000													10	989					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:118623533A>T	ENST00000354673.2	-	8	1193	c.813T>A	c.(811-813)aaT>aaA	p.N271K	IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343000													7	158					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				4	98					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71929729	71929729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71929729C>T	ENST00000449475.2	+	2	450	c.152C>T	c.(151-153)gCc>gTc	p.A51V	FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	34					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGTATGGATGCCAAGCACCAC	0.542000													4	203					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427961	134427961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:134427961A>T	ENST00000370766.3	-	3	2815	c.106T>A	c.(106-108)Tac>Aac	p.Y36N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	36					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTGTGCTGTATTTCTTACTC	0.507000													8	783					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080103	23080103	+	Missense_Mutation	SNP	G	G	A	rs148627286		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:23080103G>A	ENST00000219689.7	-	16	3322	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	USP31_ENST00000567975.1_Missense_Mutation_p.S401L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1108	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAAGGAGATGACACGGAGTC	0.582000													7	363					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552000													12	384					9.31168e-06	1.08177e-05	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91735015	91735015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:91735015G>A	ENST00000359028.2	+	47	11591	c.11366G>A	c.(11365-11367)tGg>tAg	p.W3789*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3789					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTCGACGGTGGCATCGAGTC	0.333000			T	BRAF	papillary thyroid								64	86					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73150893	73150893	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:73150893T>C	ENST00000377110.2	-	25	5343	c.5100A>G	c.(5098-5100)caA>caG	p.Q1700Q	TRPM3_ENST00000396285.1_Silent_p.Q1559Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Silent_p.Q1549Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1725						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCAAAGCTTTGGAAAGCCG	0.507000													3	128					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													4	55					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160395071	160395071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160395071G>A	ENST00000368061.2	+	8	1943	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	490					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGTCAGCACCAAGAAG	0.527000													4	346					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665832	19665832	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:19665832G>A	ENST00000328041.6	+	12	1348	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	384						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGAGAATGGGACAGGGCCC	0.522000													4	161					0	0	1	0	0
PTRHD1	391356	broad.mit.edu	37	2	25013321	25013321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25013321C>A	ENST00000328379.4	-	2	386	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	128					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TGGCCCACTTCTTCCTTGGGG	0.493000													14	147					1.5739e-10	1.96404e-10	1	1	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472930	67472930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67472930G>A	ENST00000290949.3	-	6	910	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	254					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGAGCCAGCTGCGCCAGGCCC	0.587000													6	309					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26856137	26856137	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:26856137C>G	ENST00000226247.2	+	4	754	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	242					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAGCTACCCCATACCCTAC	0.582000													7	290					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372453	133372453	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:133372453A>G	ENST00000204726.3	-	11	3012	c.2454T>C	c.(2452-2454)gcT>gcC	p.A818A	GOLGA3_ENST00000545875.1_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	818					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGGATTTGATAGCTAATTCTT	0.433000													4	263					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214646	3214646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:3214646G>A	ENST00000380059.3	-	6	756	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	192					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GACAGCAGGTGGACTGAGGAA	0.652000													4	62					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179974674	179974674	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:179974674G>A	ENST00000428443.3	-	18	2359	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	681					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGCCTTTTGAGATTAACTA	0.418000													4	127					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217801	134217801	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:134217801G>A	ENST00000359579.4	+	4	717	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	133					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TAATGCCATCGGTGGAAAAGC	0.463000													8	1049					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417337	113417337	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:113417337A>G	ENST00000272542.3	+	8	2144	c.1605A>G	c.(1603-1605)gtA>gtG	p.V535V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCAATGACGTAAGGTCAGTTG	0.458000													3	172					0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33557371	33557371	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:33557371A>T	ENST00000592875.1	+	4	946		c.e4-1		C18orf21_ENST00000333234.5_Splice_Site	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21											endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						TTTTTATGGTAGTTGATCACT	0.358000													5	152					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122774917	122774917	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:122774917G>T	ENST00000368454.1	-	7	916	c.587C>A	c.(586-588)gCa>gAa	p.A196E	SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E			Q9NRX5	SERC1_HUMAN	serine incorporator 1	196					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAGCTTACCTGCATACCAACA	0.368000													33	231					3.93418e-24	5.17239e-24	1	1	0
SLC24A5	283652	broad.mit.edu	37	15	48434343	48434343	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:48434343T>A	ENST00000341459.3	+	9	1371	c.1298T>A	c.(1297-1299)gTa>gAa	p.V433E	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.V373E|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	433					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGCAGAAGTAAACAGCAGA	0.358000													7	259					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472314	50472314	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50472314G>A	ENST00000228468.4	+	6	1333	c.948G>A	c.(946-948)acG>acA	p.T316T	ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	316					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGTGAGACGCGCTACCTGG	0.612000													13	920					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295457	101295457	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:101295457G>A	ENST00000538618.1	+	4	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTGAAAAGCGTTTGCAAATC	0.507000										HNSCC(74;0.22)			20	184					0	0	1	0	0
ZNF740	283337	broad.mit.edu	37	12	53580224	53580224	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53580224G>T	ENST00000416904.3	+	6	868	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TCATCCAGAAGTACCACCTGG	0.502000													19	52					1.96292e-10	2.43916e-10	1	1	0
CUX2	23316	broad.mit.edu	37	12	111776090	111776090	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:111776090G>A	ENST00000261726.6	+	20	3351	c.3196_splice	c.e20-1	p.G1066_splice		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1066						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTATCCCCAGGGCAGCGGCTG	0.622000													13	28					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691473	7691473	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7691473A>G	ENST00000572933.1	+	44	8271	c.6811A>G	c.(6811-6813)Aac>Gac	p.N2271D	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2271	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAAGGACAACTGCAAGGA	0.557000													10	327					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130712	37130712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:37130712T>A	ENST00000588268.1	-	6	762	c.535A>T	c.(535-537)Act>Tct	p.T179S	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAGTAAAGTATGTTGGCTA	0.333000													5	252					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638938	56638938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56638938C>G	ENST00000267116.7	-	22	2562	c.2441G>C	c.(2440-2442)aGc>aCc	p.S814T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	814							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGAAAACGGGCTGTGTTCAAG	0.522000													12	920					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43707823	43707823	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43707823C>T	ENST00000263801.3	-	23	5295	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K	TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1681					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCGACCTCGCTTGGCAGGGG	0.507000								Other conserved DNA damage response genes					4	435					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32145408	32145408	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:32145408C>A	ENST00000312561.4	+	6	5597	c.5183C>A	c.(5182-5184)aCc>aAc	p.T1728N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		ATGTTTCAAACCTACAAACAG	0.368000													20	204					0.014323	0.0152279	1	1	0
FCHSD1	89848	broad.mit.edu	37	5	141026213	141026213	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141026213C>T	ENST00000435817.2	-	11	1051	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	334								p.S334I(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCTCGGCTGGTCAAGCG	0.602000													5	16					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579133	41579133	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:41579133C>A	ENST00000402904.2	-	8	905	c.537G>T	c.(535-537)aaG>aaT	p.K179N	SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	179					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGAGGGTTCTTCCTGTCCA	0.512000													6	62					0.0215528	0.0225882	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77652058	77652058	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:77652058G>A	ENST00000296043.6	+	4	1510	c.557G>A	c.(556-558)gGc>gAc	p.G186D	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	186					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTATGATCGGCCCTCCTTGG	0.498000													6	441					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:347159C>A	ENST00000262320.3	-	7	2223	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612000													4	112					1	1	1	1	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													4	101					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092540	30092540	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:30092540G>A	ENST00000567636.1	+	0	915					NR_003558.1																						GCCCAGCGAGGTCATGATGAT	0.488000													12	500					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510859	56510859	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56510859G>A	ENST00000302957.3	-	1	428	c.429C>T	c.(427-429)aaC>aaT	p.N143N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAGCAATGGGTTACAAATTG	0.498000													40	217					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													6	259					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514252	125514252	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:125514252C>A	ENST00000241305.3	-	13	2098	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	648					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCTCTCACCAAGCCTT	0.498000													8	223					0.00621372	0.00665432	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153314103	153314103	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153314103C>A	ENST00000368739.3	-	6	971	c.613_splice	c.e6+1	p.A205_splice	PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	209					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGTCTTACCCTTCTTCAGG	0.542000													6	287					3.59834e-05	4.06798e-05	1	1	0
RBM19	9904	broad.mit.edu	37	12	114385216	114385216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:114385216C>A	ENST00000545145.2	-	11	1408	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	444	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AATGCAAAACCCTTGGGTTTC	0.602000													19	99					4.35082e-09	5.31666e-09	1	1	0
FLT3	2322	broad.mit.edu	37	13	28592645	28592645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:28592645G>A	ENST00000380982.4	-	20	2581	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	834	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATATCTCGAGCCAATCCA	0.453000			"""Mis, O"""		"""AML, ALL"""								4	72					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70396783	70396783	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:70396783C>A	ENST00000264434.2	-	6	1429	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	350										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CATCTAACAGCTGACCACAGG	0.388000													3	39					0.115264	0.118483	1	1	0
C6	729	broad.mit.edu	37	5	41149560	41149560	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:41149560C>T	ENST00000263413.3	-	17	2670	c.2406G>A	c.(2404-2406)gtG>gtA	p.V802V	C6_ENST00000337836.5_Silent_p.V802V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	802	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTGTCAAACACACAGAGAT	0.398000													6	317					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416143	82416143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:82416143G>T	ENST00000370728.1	+	9	2114	c.1469G>T	c.(1468-1470)cGa>cTa	p.R490L	LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L			O95490	LPHN2_HUMAN	latrophilin 2	490					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTTGAACGACCATGCCCT	0.383000													21	136					6.12954e-19	8.00509e-19	1	1	0
GCOM1	145781	broad.mit.edu	37	15	57921931	57921931	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:57921931G>A	ENST00000574161.1	+	6	676	c.557G>A	c.(556-558)aGc>aAc	p.S186N	GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		186					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTGGAAAACAGCAACATTAAG	0.458000													7	697					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697676	111697676	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:111697676G>T	ENST00000435970.1	-	15	2464	c.1648C>A	c.(1648-1650)Cct>Act	p.P550T	REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	628					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATCCAGGGTATTTCATA	0.323000								DNA polymerases (catalytic subunits)					4	50					0.217242	0.220613	1	1	0
ZBTB22	9278	broad.mit.edu	37	6	33283506	33283506	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33283506A>G	ENST00000431845.2	-	2	1339	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	ZBTB22_ENST00000418724.1_Silent_p.L396L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGAGTCATCAAGACCTGCCA	0.612000													8	424					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2108854	2108854	+	Missense_Mutation	SNP	G	G	T	rs137854263		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:2108854G>T	ENST00000219476.3	+	10	1585	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L	TSC2_ENST00000382538.6_Missense_Mutation_p.V270L|TSC2_ENST00000568454.1_Missense_Mutation_p.V330L|TSC2_ENST00000353929.4_Missense_Mutation_p.V319L|TSC2_ENST00000350773.4_Missense_Mutation_p.V319L|TSC2_ENST00000401874.2_Missense_Mutation_p.V319L|TSC2_ENST00000439673.2_Missense_Mutation_p.V282L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	319	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCGACATCTGTGTTGCCATC	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				11	31					0.00136819	0.00149511	1	1	0
APOL6	80830	broad.mit.edu	37	22	36054744	36054744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:36054744G>T	ENST00000409652.3	+	3	409	c.133G>T	c.(133-135)Gaa>Taa	p.E45*		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	45					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTTTGAGAGAATTTCCCAG	0.443000													9	49					1.12685e-05	1.30653e-05	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9237454	9237454	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9237454G>A	ENST00000305444.2	-	1	172	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAAGTACATGGGGGTGTGGAG	0.557000													4	356					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55527162	55527162	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:55527162G>A	ENST00000219070.4	+	9	1938	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	477	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTATTTGATGGCATCGCTCA	0.567000													7	490					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039464	2039464	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:2039464A>T	ENST00000382203.1	+	4	564		c.e4-1		SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000491574.1_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTTTTATTTTAGGTTATATGT	0.493000													6	94					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054074	49054074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:49054074G>A	ENST00000440857.1	-	8	1235	c.533C>T	c.(532-534)gCa>gTa	p.A178V	DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	345					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGCTTCAGTGCTGAGGCCTT	0.587000													7	100					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324819	152324819	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152324819A>C	ENST00000388718.5	-	3	5515	c.5443T>G	c.(5443-5445)Ttc>Gtc	p.F1815V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1815							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTGTGAGAACCCTGAGTGC	0.532000													7	250					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33000357	33000357	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:33000357G>T	ENST00000374864.4	+	5	462	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	83	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTTCGTGTGTGGAGTCACC	0.303000													8	59					9.05144e-12	1.14161e-11	1	1	0
L1TD1	54596	broad.mit.edu	37	1	62675572	62675572	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:62675572A>T	ENST00000498273.1	+	4	1421	c.1126A>T	c.(1126-1128)Act>Tct	p.T376S		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	376	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACTTAGAGACTCAAGAGGA	0.463000													3	63					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422317	70422317	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:70422317C>T	ENST00000393640.4	-	3	2773	c.666G>A	c.(664-666)ctG>ctA	p.L222L	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	222					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				ACAGAAGGTCCAGGACCTTGA	0.582000													4	300					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319446	132319446	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:132319446T>A	ENST00000249887.2	+	2	301	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		TTATGCCTATTACAAGAAACA	0.398000													5	334					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74092013	74092013	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:74092013T>A	ENST00000389156.4	-	11	1194		c.e11-2		FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A											breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GACTCCAATCTAAAAAACAAA	0.348000													5	125					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726270	11726270	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11726270G>A	ENST00000262442.3	+	48	9233	c.9165G>A	c.(9163-9165)ttG>ttA	p.L3055L	DNAH9_ENST00000454412.2_Silent_p.L3055L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3055	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGCTTGTTGCACAGGCACA	0.512000													4	107					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884089	19884089	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:19884089C>G	ENST00000300571.2	-	2	270	c.79G>C	c.(79-81)Gcc>Ccc	p.A27P	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	27										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCAGAGGCCACCGAGGTG	0.577000													3	78					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45749891	45749891	+	Silent	SNP	G	G	A	rs71313004		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:45749891G>A	ENST00000357450.4	-	21	3239	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	SMC1B_ENST00000404354.3_Silent_p.I1080I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1080					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTTCTTGTAGATTTGATCAA	0.398000													14	146					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58301427	58301427	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:58301427G>T	ENST00000219299.4	+	7	907	c.828G>T	c.(826-828)aaG>aaT	p.K276N	CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	276						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCTGGACAAGGAGATCTTGC	0.398000													9	136					3.86212e-05	4.3495e-05	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121413623	121413623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121413623A>T	ENST00000393667.3	-	13	5857	c.5747T>A	c.(5746-5748)cTa>cAa	p.L1916Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L1911Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1911					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTCTCCTTTAGTTTGGTAAC	0.378000													8	266					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470993	120470993	+	Silent	SNP	G	G	A	rs78293159		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:120470993G>A	ENST00000355622.6	+	2	347	c.246G>A	c.(244-246)gtG>gtA	p.V82V	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	82					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AACTGCAGGTGCTGGATTTAT	0.458000													55	361					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36353326	36353326	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:36353326G>A	ENST00000373738.1	-	2	972	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.L43L|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000340181.4_Silent_p.L43L	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	43	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTTCCTGGCAGCTTGCAGATC	0.483000													4	382					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135153480	135153480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135153480A>T	ENST00000372169.2	-	21	7001	c.6819T>A	c.(6817-6819)taT>taA	p.Y2273*	SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273*			Q7Z333	SETX_HUMAN	senataxin	2273					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTTTCTGTTATAAACATAAT	0.368000													5	145					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069652	36069652	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:36069652A>G	ENST00000303965.4	-	33	5481	c.4992T>C	c.(4990-4992)aaT>aaC	p.N1664N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1664					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGCTTTGCTATTCCTGTCCT	0.448000													8	372					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACTCTGGCCAGTTGTTGCT	0.423000													3	74					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567000													6	72					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47103733	47103733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:47103733A>T	ENST00000409792.3	-	14	6255	c.6213T>A	c.(6211-6213)aaT>aaA	p.N2071K	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2071					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTTCTCTTTATTTTGAGTTT	0.493000			"""N, F, S, Mis"""		clear cell renal carcinoma								7	531					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32777354	32777354	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:32777354A>T	ENST00000427716.2	+	12	1935		c.e12-1		FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site|FGD4_ENST00000546442.1_Splice_Site	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTTATTTTAGTTCTGCGCA	0.333000													4	82					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336357	141336357	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141336357C>T	ENST00000231484.3	-	1	2270	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	354					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATGTGACGTGGATGCTT	0.507000													5	350					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887919	47887919	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:47887919G>T	ENST00000446256.2	+	12	1812	c.1240G>T	c.(1240-1242)Gtg>Ttg	p.V414L	DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	453						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCACCCGGTGGTGGTCATCTC	0.672000													4	128					0.184627	0.188467	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153036318	153036318	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:153036318C>A	ENST00000538966.1	+	12	2456	c.2185C>A	c.(2185-2187)Cgg>Agg	p.R729R	PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	706					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCGTGCGGAACCTTCA	0.642000													4	7					0.184627	0.188467	1	1	0
C14orf93	60686	broad.mit.edu	37	14	23468012	23468012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23468012C>T	ENST00000299088.6	-	2	650	c.221G>A	c.(220-222)gGt>gAt	p.G74D	C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	74						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTCAGCCAAACCCACTGCCTT	0.557000													157	57					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16173246	16173246	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:16173246G>T	ENST00000399408.2	+	16	2201	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	676	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTTGGTGGCCGTGGTGGGCCA	0.602000													17	572					9.95505e-16	1.27746e-15	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:1902443T>A	ENST00000503128.1	+	2	269	c.62T>A	c.(61-63)aTg>aAg	p.M21K	WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	21					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507000			T	IGH@	MM								6	176					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050925	25050925	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25050925G>T	ENST00000260600.5	-	13	3129	c.2278C>A	c.(2278-2280)Ctg>Atg	p.L760M	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	760					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATGAGGGACAGCACGGCCACA	0.592000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	77					5.3912e-06	6.30044e-06	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59519787	59519787	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:59519787T>C	ENST00000288235.4	-	7	912	c.513A>G	c.(511-513)ggA>ggG	p.G171G	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	171	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAAGTATTTTCCCTGCAAGA	0.408000													8	766					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32262283	32262283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:32262283G>A	ENST00000360482.2	-	10	2308	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTCTGCACGGCTCCTTCTGT	0.562000													29	46					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					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)					TCAACTCTAATACACAGCAAC	0.453000													7	446					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459704	69459704	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:69459704A>T	ENST00000374521.3	+	6	793	c.752A>T	c.(751-753)tAc>tTc	p.Y251F		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	251					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTTGGTTTCTACTGTTGTGTC	0.502000													7	568					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149907008	149907008	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:149907008G>A	ENST00000439741.2	-	5	589	c.339C>T	c.(337-339)tcC>tcT	p.S113S	MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	113							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGACTCGGGACAAGCCGC	0.547000													4	117					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299000			T	BRAF	papillary thyroid								5	43					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													4	94					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43240464	43240464	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:43240464G>T	ENST00000372525.5	+	4	382	c.339G>T	c.(337-339)gtG>gtT	p.V113V	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	113										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTAATATAGTGAAAAAACCTG	0.378000													4	148					2.56e-06	3.00367e-06	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152708494	152708494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152708494G>T	ENST00000367255.5	-	54	8801	c.8200C>A	c.(8200-8202)Caa>Aaa	p.Q2734K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2734					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTCCATTGGCTAATCACA	0.368000										HNSCC(10;0.0054)			5	219					0.00116845	0.00127921	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160061536	160061536	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:160061536A>G	ENST00000327245.5	-	12	2052	c.1206T>C	c.(1204-1206)ctT>ctC	p.L402L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	402					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATACAGGTCAAGGTCATTGC	0.478000													5	502					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567703	57567703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57567703G>A	ENST00000243077.3	+	22	3953	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1163	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCCCCCTGACAAGCTGTG	0.632000													4	89					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167653164	167653164	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167653164G>T	ENST00000367854.3	+	2	365	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	12										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAATGCCAATGTGGACAACTC	0.587000													130	820					4.08915e-86	5.64054e-86	1	1	0
NUP85	79902	broad.mit.edu	37	17	73221470	73221470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:73221470C>A	ENST00000447371.2	+	8	686	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	NUP85_ENST00000245544.4_Missense_Mutation_p.L256M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	256					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGAGCTGGAGCTGAAGTGGCA	0.562000													6	59					0.0809354	0.0837802	1	1	0
BRF2	55290	broad.mit.edu	37	8	37704631	37704631	+	Missense_Mutation	SNP	C	C	T	rs142395337		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:37704631C>T	ENST00000220659.6	-	3	397	c.277G>A	c.(277-279)Gcg>Acg	p.A93T	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.A93T	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	93					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAGGCAACCGCGGTATCCTCA	0.547000													7	787					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097420	124097420	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:124097420A>T	ENST00000422452.2	-	1	246	c.183T>A	c.(181-183)agT>agA	p.S61R	TENM1_ENST00000371130.3_Missense_Mutation_p.S61R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCTCTTTCTACTCTGGCTAT	0.368000													6	335					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23933821	23933821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:23933821T>C	ENST00000379211.3	+	4	770	c.221T>C	c.(220-222)tTc>tCc	p.F74S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCAGGAATTCTATGTAACA	0.378000													4	15					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33020118	33020118	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:33020118G>A	ENST00000242209.4	+	5	1015	c.846G>A	c.(844-846)agG>agA	p.R282R	FKBP9_ENST00000538443.1_Silent_p.R144R|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.R335R	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	282	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			ACTTTCTCAGGTATCATTACA	0.413000													4	321					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748606	43748606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43748606G>A	ENST00000263801.3	-	12	2437	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	729					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTTTGAGGGGAATCA	0.408000								Other conserved DNA damage response genes					6	250					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41204585	41204585	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:41204585C>A	ENST00000372652.1	+	2	338	c.70C>A	c.(70-72)Cct>Act	p.P24T	NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T|NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	24					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTCGTTCTGGCCTCGGGTCAT	0.408000													3	31					0.115264	0.118483	1	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622120	106622120	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:106622120G>A	ENST00000390604.2	-	0	198																											TCCAGAGGCTGCACAGGAGAG	0.587000													5	355					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135522302	135522302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135522302C>A	ENST00000372159.3	-	12	1577	c.1426G>T	c.(1426-1428)Gca>Tca	p.A476S	DDX31_ENST00000438527.3_Missense_Mutation_p.A347S|DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	476						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTGGTATTGCAAAGCTGTCC	0.532000													5	94					0.000602214	0.000662999	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129275241	129275241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129275241C>T	ENST00000324093.4	-	36	5870	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1898					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCTCCGGGCCGTGGGGTTG	0.612000													5	64					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47570047	47570047	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:47570047G>T	ENST00000397748.1	-	7	935	c.892C>A	c.(892-894)Cag>Aag	p.Q298K	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.Q298K|FTCD_ENST00000291670.5_Missense_Mutation_p.Q298K|FTCD_ENST00000397746.3_Missense_Mutation_p.Q298K|FTCD_ENST00000397743.1_Missense_Mutation_p.Q298K|FTCD_ENST00000355384.2_Missense_Mutation_p.Q298K			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	298	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGATCCGCTGCTCCTCCTCC	0.697000													6	12					0.00116845	0.00127921	1	1	0
ZNF57	126295	broad.mit.edu	37	19	2917734	2917734	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:2917734C>G	ENST00000306908.5	+	4	1263	c.1115C>G	c.(1114-1116)gCc>gGc	p.A372G	ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAAAGCCTTCACTTGG	0.443000													48	139					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209922	183209922	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:183209922G>T	ENST00000341319.3	-	7	1694	c.1659C>A	c.(1657-1659)atC>atA	p.I553I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	553										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGCAGGGCGCGATACCGCAGC	0.662000													12	110					2.12542e-12	2.70382e-12	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102496024	102496024	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:102496024G>T	ENST00000360184.4	+	49	9781	c.9617G>T	c.(9616-9618)aGg>aTg	p.R3206M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3206	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGGGCTCAGGAAGATCAAA	0.532000													95	315					1.44766e-59	1.97836e-59	1	1	0
BRDT	676	broad.mit.edu	37	1	92446676	92446676	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:92446676T>A	ENST00000370389.2	+	10	2396	c.1472T>A	c.(1471-1473)cTa>cAa	p.L491Q	BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCATCAACACTAAGAGAATTA	0.358000													4	70					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756191	3756191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:3756191G>A	ENST00000378230.3	-	7	1040	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	239						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCAGCAATGGCTTGTTTTAG	0.353000													5	222					0	0	1	0	0
FAM228A	653140	broad.mit.edu	37	2	24406229	24406229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:24406229C>T	ENST00000295150.3	+	4	324	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		AACTGGTCTTCAGTGTGAGAC	0.438000													6	81					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169212948	169212948	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:169212948C>A	ENST00000393743.3	-	8	1283	c.992G>T	c.(991-993)aGa>aTa	p.R331I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	331							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTGATGACTCTAGCACAAGC	0.373000													11	123					0.000219431	0.000245713	1	1	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				5	83					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111340073	111340073	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:111340073G>A	ENST00000257347.4	-	5	629	c.566C>T	c.(565-567)gCa>gTa	p.A189V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	189				RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTACCTTTTGCCGTTGAATA	0.408000													11	1947					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767222	41767222	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:41767222G>A	ENST00000379483.3	-	1	1480	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	391							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCATGGTCTGGGGACACACA	0.507000													29	52					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35615939	35615939	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:35615939C>A	ENST00000396757.1	-	6	853		c.e6+1		CD72_ENST00000490239.1_Splice_Site|CD72_ENST00000259633.4_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGCGGATACCTGCTGAGCC	0.557000													13	484					0.0545645	0.0566817	1	1	0
LPL	4023	broad.mit.edu	37	8	19809320	19809320	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:19809320C>T	ENST00000311322.8	+	3	760	c.290C>T	c.(289-291)gCc>gTc	p.A97V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	97					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AAACTTGTGGCCGCCCTGTAC	0.493000													7	603					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45165995	45165995	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:45165995G>A	ENST00000291565.4	+	5	550	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PDXK_ENST00000468090.1_Missense_Mutation_p.E95K|PDXK_ENST00000467908.1_Missense_Mutation_p.E83K	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	123					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTGGGACGGCGAAGGCTCGAT	0.502000													12	285					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945900	58945900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:58945900G>T	ENST00000254166.3	-	3	1311	c.911C>A	c.(910-912)tCt>tAt	p.S304Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCTCAGCTTAGATGAGTGACT	0.388000													6	57					0.0293803	0.0306284	1	1	0
RAF1	5894	broad.mit.edu	37	3	12632448	12632448	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:12632448G>C	ENST00000251849.4	-	12	1658	c.1219C>G	c.(1219-1221)Ctt>Gtt	p.L407V	RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	407	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCCATGAAAAGCAGAATGTTC	0.547000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				8	759					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264606	75264606	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:75264606C>A	ENST00000325680.7	+	5	2730	c.2606C>A	c.(2605-2607)aCc>aAc	p.T869N	YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	674	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTAGCAGACACCAGTAGTAAC	0.443000													8	527					0.00307968	0.00333443	1	1	0
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303000													6	47					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353000													6	114					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235178	100235178	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:100235178T>A	ENST00000305046.8	-	6	695	c.628A>T	c.(628-630)Atg>Ttg	p.M210L	ADH1B_ENST00000394887.3_Missense_Mutation_p.M170L			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	210					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTACAGCCCATAACAGCAGAT	0.483000													10	1626					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428000									Familial Paragangliomas				5	87					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981555	118981555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:118981555A>T	ENST00000336702.3	+	4	929		c.e4-1			NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTGTCTGTAGTTGGAAGTC	0.527000													7	367					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													6	216					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21071661	21071661	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21071661C>A	ENST00000261383.3	-	26	3736	c.3737G>T	c.(3736-3738)tGg>tTg	p.W1246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1246	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTGGAGCCACTTTTCCAC	0.527000													24	339					1.42536e-11	1.79005e-11	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553263	140553263	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140553263T>C	ENST00000231137.3	+	1	1021	c.847T>C	c.(847-849)Tac>Cac	p.Y283H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		283	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTCTTACGCCACTGA	0.438000													4	413					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102953051	102953051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:102953051C>A	ENST00000379263.3	-	17	2081	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AGCACTTGTTCTTGAGCAGCT	0.328000													5	182					0.0293803	0.0306284	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74624255	74624255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:74624255G>A	ENST00000253159.8	+	17	3053	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	952					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGGCACAAGGTTCCCAGTTT	0.488000													12	93					0	0	1	0	0
WFDC11	259239	broad.mit.edu	37	20	44279177	44279177	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44279177C>T	ENST00000356562.2	-	3	284	c.63G>A	c.(61-63)ctG>ctA	p.L21L	WFDC11_ENST00000324384.3_Silent_p.L21L			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	21						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCAGCACAGACAGTAGCACCG	0.468000													6	520					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131007746A>T	ENST00000307968.7	-	13	2306	c.2307T>A	c.(2305-2307)acT>acA	p.T769T	FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.T797T	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443000													5	310					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638432	176638432	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:176638432G>C	ENST00000439151.2	+	5	3077	c.3032G>C	c.(3031-3033)aGt>aCt	p.S1011T	NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1011					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGTAAAAGTCGTTCAGAC	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	736					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532750	23532750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23532750C>A	ENST00000262710.1	-	13	3133	c.2806G>T	c.(2806-2808)Gaa>Taa	p.E936*	ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	936					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCTCTTCTTCCCTCTGCCCA	0.517000													97	810					2.99311e-26	3.96167e-26	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134077468	134077468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:134077468C>G	ENST00000514516.1	-	9	2547	c.2369G>C	c.(2368-2370)gGc>gCc	p.G790A	AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	732										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCTGGGGGGCCCTCAGTCTG	0.637000											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	54					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905312	149905312	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:149905312G>A	ENST00000439741.2	-	10	1222	c.972C>T	c.(970-972)gcC>gcT	p.A324A	MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	324	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGGCAGAGGGCCCTCAGCC	0.557000													6	282					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33053608C>A	ENST00000418931.2	+	4	815	c.699C>A	c.(697-699)ttC>ttA	p.F233L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	233					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582000													43	236					2.01807e-28	2.68317e-28	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999908	72999908	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:72999908G>A	ENST00000322038.5	+	2	2995	c.2411G>A	c.(2410-2412)gGc>gAc	p.G804D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	849						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AACCTCACAGGCCGCCTGACG	0.597000													3	61					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15566947	15566947	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:15566947C>A	ENST00000343625.6	-	11	1769	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	563	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGAAGACCTCCTCGCAGCTGT	0.577000													5	112					0.014758	0.0155779	1	1	0
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:55049839A>G	ENST00000260102.4	+	3	349	c.275A>G	c.(274-276)cAg>cGg	p.Q92R		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398000													5	692					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457058	159457058	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:159457058C>T	ENST00000367066.3	-	10	2328	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTTTCCATCGCTCAGGCAG	0.627000													30	37					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259751	79259751	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:79259751C>A	ENST00000428286.1	-	12	8758	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2878					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCGGTTGTCCTCCCGTTCC	0.507000													11	129					3.86212e-05	4.3495e-05	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3664715	3664715	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:3664715C>A	ENST00000263087.4	-	5	513	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	139					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAGAAGTTGGCCTGAGCCTGG	0.567000													4	62					0.000602214	0.000662999	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13702551	13702551	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:13702551C>A	ENST00000357447.2	-	20	2031	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	555						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACCTGAGAGTCTTCTGCACAA	0.597000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0.00909568	0.0096878	1	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:12880890G>A	ENST00000155926.4	+	3	2421	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													3	91					0	0	1	0	0
C9orf153	389766	broad.mit.edu	37	9	88842305	88842305	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:88842305A>T	ENST00000376001.3	-	4	329	c.249T>A	c.(247-249)aaT>aaA	p.N83K	C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	83										breast(1)|lung(1)	2						tgtTCATTTTATTGACACTGT	0.323000													4	81					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79293949	79293949	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79293949C>A	ENST00000264895.6	+	24	3387	c.2947C>A	c.(2947-2949)Cag>Aag	p.Q983K	FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	983					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATGTTCTCCAGGATGGGGC	0.527000													130	1125					1.13981e-37	1.54333e-37	1	1	0
DPP8	54878	broad.mit.edu	37	15	65790316	65790316	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:65790316C>T	ENST00000341861.5	-	5	2229	c.649G>A	c.(649-651)Gat>Aat	p.D217N	DPP8_ENST00000300141.6_Missense_Mutation_p.D201N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000559233.1_Missense_Mutation_p.D217N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	217					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTTTGGATCCATCCGTATG	0.388000													3	96					0	0	1	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106146393	106146393	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:106146393G>A	ENST00000276173.4	-	1	154	c.125C>T	c.(124-126)tCc>tTc	p.S42F	RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	42					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						TTGTCCAGAGGAGAGAAGGCA	0.537000													6	55					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904736	148904736	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:148904736T>A	ENST00000261798.5	-	3	663		c.e3-2		CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCATACCACCTAACGAAACAA	0.353000													3	34					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463388	33463388	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:33463388G>T	ENST00000455041.2	-	23	2949	c.2890C>A	c.(2890-2892)Cct>Act	p.P964T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1016					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATATGGCGAGGAGACAGGCGA	0.652000													7	82					7.48243e-07	8.88538e-07	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:248201694T>C	ENST00000366479.2	+	1	221	c.125T>C	c.(124-126)cTa>cCa	p.L42P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393000													6	606					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145387	48145387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48145387C>T	ENST00000418331.2	+	5	1191	c.839C>T	c.(838-840)aCa>aTa	p.T280I	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	280	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAATAAGACAAAGGGAGAC	0.458000													14	229					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540772	40540772	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40540772C>T	ENST00000434248.1	-	5	2059	c.1994G>A	c.(1993-1995)gGt>gAt	p.G665D	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTTTACACCAGCATGAAT	0.388000													6	378					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948806	133948806	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:133948806A>T	ENST00000414371.2	+	4	397	c.224A>T	c.(223-225)aAt>aTt	p.N75I	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39I|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39I	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTAGTTTTAATTCACAGGTG	0.343000													5	119					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50405564	50405564	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:50405564C>A	ENST00000217086.4	-	3	2689	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	860					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTGGGCTGCTAACAAAGGG	0.577000													11	304					3.32936e-07	3.9616e-07	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140357192	140357192	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140357192A>T	ENST00000406427.1	-	30	3773	c.3437T>A	c.(3436-3438)cTg>cAg	p.L1146Q	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1121					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCCAGACAGCGCATCCCC	0.637000													2	4					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089905	20089905	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089905G>A	ENST00000396085.1	+	22	5305	c.4944G>A	c.(4942-4944)caG>caA	p.Q1648Q	NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000311043.8_Silent_p.Q712Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1704	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGCCTCCCAGGAGAAAGTTT	0.517000													29	87					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000548516.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													12	969					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178426848	178426848	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:178426848G>A	ENST00000448150.3	+	14	3206	c.2388G>A	c.(2386-2388)caG>caA	p.Q796Q	RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	666					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCCAAGCCAGGACAACACAG	0.408000													6	91					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93691888	93691888	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:93691888A>T	ENST00000343253.7	+	17	2674		c.e17-1		CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000421014.2_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTCCTGCTTAGGTTAGGCAA	0.299000													4	74					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43604483	43604483	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:43604483G>T	ENST00000355710.3	+	6	1300	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RET_ENST00000340058.5_Silent_p.L356L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	356					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGCAGGGCTGGTTCTCAACC	0.602000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	73					4.93089e-13	6.29999e-13	1	1	0
PKD2L1	9033	broad.mit.edu	37	10	102058505	102058505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102058505T>C	ENST00000318222.3	-	4	927	c.545A>G	c.(544-546)cAt>cGt	p.H182R	PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	182					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGGGAGCCATGGCCCAGGCT	0.547000													9	164					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674724	78674724	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:78674724C>T	ENST00000286627.5	-	23	3764	c.2812G>A	c.(2812-2814)Ggg>Agg	p.G938R	KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	996					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATGTTGACCCCAGTTGTGATG	0.488000													15	936					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16162137	16162137	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:16162137T>C	ENST00000399408.2	+	13	1977	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTCTCCCCATGGTCATCAGC	0.577000													7	499					0	0	1	0	0
RAB2B	84932	broad.mit.edu	37	14	21931904	21931904	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:21931904C>T	ENST00000397762.1	-	6	485	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	129					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TCTCTCTTCACATCCCTGCGG	0.398000													4	112					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983950	176983950	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:176983950C>T	ENST00000367654.2	-	8	1537	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	508					cell migration|neuron cell-cell adhesion	integral to membrane		p.R500R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCCATTCGTTCCGAATGCAAA	0.488000													19	2169					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779044	52779044	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:52779044G>T	ENST00000257951.3	-	1	392	c.326C>A	c.(325-327)gCt>gAt	p.A109D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	109	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCCAGCTCCAAAGCC	0.587000													3	63					0.004672	0.0050124	1	1	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism				87	226					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587000													5	49					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964520	123964520	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:123964520A>G	ENST00000314393.4	+	3	1605	c.770A>G	c.(769-771)aAg>aGg	p.K257R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	257	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTGCCCAAGGTCCCTGTC	0.507000													5	447					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433988	40433988	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40433988G>A	ENST00000221347.6	-	2	288	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	94	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCAGCCTTGGCACTGATGTT	0.547000													8	347					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177202251	177202251	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:177202251C>T	ENST00000392529.2	+	11	1026	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MTX2_ENST00000249442.6_Silent_p.G217G|MTX2_ENST00000443241.1_Silent_p.G161G			O75431	MTX2_HUMAN	metaxin 2	217					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTATTTGGCCATCTATACA	0.378000													5	189					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82611312	82611312	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:82611312C>T	ENST00000313010.3	-	1	327	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	45					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TAGTTCTTGGCTACAGCCGGG	0.647000													3	145					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													6	198					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													4	58					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428000													10	324					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131001	44131001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:44131001C>T	ENST00000222374.2	-	4	482	c.434G>A	c.(433-435)tGc>tAc	p.C145Y		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	145	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CGGAACGAGGCAGCTGAGCTC	0.672000													3	41					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38247400	38247400	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:38247400T>C	ENST00000412331.2	+	3	778	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	66						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCTCAGATTTGATTGACCA	0.438000													4	135					0	0	0.009096	0	0
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	BLK_ENST00000529894.1_Silent_p.G182G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	253	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607000													34	87					1.22384e-17	2.1139e-17	0.054565	1	0
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657000													5	33					0	0	0.014758	0	0
SOGA2	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:8825455C>A	ENST00000359865.3	+	15	4089	c.3947C>A	c.(3946-3948)aCg>aAg	p.T1316K	SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1626																	GGGTCCCGGACGATGGGGACC	0.612000													15	72					6.31663e-08	1.02141e-07	0.132662	1	0
DHX40	79665	broad.mit.edu	37	17	57663568	57663568	+	Silent	SNP	A	A	G	rs2697395	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:57663568A>G	ENST00000451169.2	+	14	1613	c.1254A>G	c.(1252-1254)caA>caG	p.Q418Q	DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	466	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q466Q(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCTTAAACAACTTTACCAGT	0.323000													4	25					0	0	0.009096	0	0
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403000													9	65					0	0	0.069234	0	0
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552000													15	95					0.000308642	0.00047871	0.132662	1	0
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592000													8	63					5.18039e-06	8.20229e-06	0.038147	1	0
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567000													7	208					0	0	0.038147	0	0
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443000													28	45					2.65835e-16	4.48965e-16	0.125774	1	0
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89334236C>T	ENST00000380265.5	+	12	1559	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443000													15	677					0	0	0.033300	0	0
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135158714T>C	ENST00000372169.2	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L			Q7Z333	SETX_HUMAN	senataxin	2161					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478000													59	200					0	0	0.139131	0	0
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532000													31	66					0	0	0.134883	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCAGGAAAGTTTGTGGGGCTT	0.478000													6	158					0	0	0.038147	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950897	14950897	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:14950897G>A	ENST00000453695.2	-	14	1673	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	530					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGATGTGAGTTGATTCTCC	0.453000								Non-homologous end-joining					5	114					0	0	0.014758	0	0
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512000										HNSCC(10;0.0054)			6	343					0	0	0.029380	0	0
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433000													37	110					0	0	0.074837	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	32					0	0	0.115264	0	0
ESPNP	284729	broad.mit.edu	37	1	17034167	17034167	+	RNA	SNP	G	G	A	rs2988287	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:17034167G>A	ENST00000492551.1	-	0	436					NR_026567.1																						CGCGAAGTGCGTGGCGGTGGC	0.731000													3	7					0	0	0.115264	0	0
EHHADH	1962	broad.mit.edu	37	3	184953206	184953206	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:184953206T>C	ENST00000231887.3	-	3	298	c.223A>G	c.(223-225)Aca>Gca	p.T75A	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	75	Enoyl-CoA hydratase / isomerase.		T -> I (in dbSNP:rs1062553).			peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGTCCCAGTGTAAGGCCAAAT	0.493000													5	119					0	0	0.021553	0	0
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567000													69	226					0	0	0.139131	0	0
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373000													5	344					0	0	0.014758	0	0
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627000													3	45					0	0	0.029380	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478000													6	156					0	0	0.038147	0	0
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592000													22	81					0	0	0.125774	0	0
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55106130G>A	ENST00000453777.1	+	4	241	c.70_splice	c.e4-1	p.G24_splice	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587000													32	142					0	0	0.054565	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													6	36					0	0	0.038147	0	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism				5	78					0	0	0.029380	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													6	36					0	0	0.021553	0	0
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587000													32	118					0	0	0.054565	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	864					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488000													7	276					0	0	0.029380	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6564	6564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chrM:6564G>A	ENST00000361624.2	+	1	661	c.661G>A	c.(661-663)Gac>Aac	p.221_221insN						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCACCTTCTTCGACCCCGCCG	0.488000													4	62					0	0	0.014758	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127000	42127000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42127000C>T	ENST00000382448.4	+	2	136	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCACTTCTACCGGGACTGGGT	0.602000													12	189					0	0	0.093190	0	0
TUSC5	286753	broad.mit.edu	37	17	1183365	1183365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:1183365C>T	ENST00000333813.3	+	1	409	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	24					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGACCTGCCGGAGATGGA	0.627000													4	117					0	0	0.009096	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358000													12	124					0	0	0.080935	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14312	14312	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chrM:14312A>G	ENST00000361681.2	-	1	361	c.362T>C	c.(361-363)gTa>gCa	p.V121A						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TTCAGCTTCCTACACTATTAA	0.468000													15	41					0	0	0.033300	0	0
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133098622G>A	ENST00000515826.1	+	3	190	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552000													20	824					0	0	0.043863	0	0
AMER3	205147	broad.mit.edu	37	2	131520926	131520926	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:131520926C>T	ENST00000423981.1	+	2	1391	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	AMER3_ENST00000321420.4_Silent_p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGCTCTTCCACGACCCCAGCG	0.637000													25	46					0	0	0.116897	0	0
MKI67	4288	broad.mit.edu	37	10	129906236	129906236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:129906236G>A	ENST00000368654.3	-	13	4243	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S	MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1290	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGCTGATGGCATTAGATTC	0.488000													9	1184					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140																											gagaggctgcgaaaggaggag	0.607000													14	150					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490662	48490662	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48490662T>C	ENST00000273861.4	+	3	1239	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	340						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTAGTCAGAATGTGCAGCTCT	0.468000													4	193					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19018058	19018058	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:19018058T>C	ENST00000379878.3	-	24	2444	c.2203A>G	c.(2203-2205)Acc>Gcc	p.T735A	GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A|GPR64_ENST00000356606.4_Missense_Mutation_p.T737A	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	751					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGATGATGGTCACAACCACA	0.453000													5	175					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150237049	150237049	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:150237049C>A	ENST00000369111.4	+	11	1974	c.1004C>A	c.(1003-1005)aCt>aAt	p.T335N		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	335						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCACGACTGAGGCATAA	0.478000													39	169					4.90955e-16	6.64618e-16	1	1	0
SLC9A9	285195	broad.mit.edu	37	3	143292951	143292951	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:143292951C>T	ENST00000316549.6	-	8	1187	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	327					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGCCTCGGCAGACAGGAAG	0.532000													5	91					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986719	11986719	+	RNA	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11986719G>C	ENST00000434078.2	+	0	608					NR_027425.1																						TGGATTTCAGGAAAAGCTGCA	0.522000													3	88					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839661	150839661	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:150839661C>T	ENST00000397238.2	+	16	2213	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	702	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AATGCCCTCGCCAACAGCGTC	0.667000													17	37					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71208625	71208625	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:71208625G>A	ENST00000319023.2	+	19	2049	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	621	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAAACTCCTCGGCATGTGGAG	0.547000													8	569					0	0	1	0	0
TMEM42	131616	broad.mit.edu	37	3	44906548	44906548	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44906548T>C	ENST00000302392.4	+	3	412	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	119						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CTGGGCTATGTGCTGTATGGA	0.557000													6	476					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135158714T>C	ENST00000372169.2	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L			Q7Z333	SETX_HUMAN	senataxin	2161					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478000													48	126					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150859002	150859002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:150859002G>T	ENST00000243389.3	+	10	1334	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	371					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CGAGCACTGTGAGTTAGTGGT	0.527000													20	467					2.21704e-12	2.93873e-12	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012468	151012468	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:151012468A>T	ENST00000260843.4	-	3	1030	c.566T>A	c.(565-567)aTc>aAc	p.I189N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	189						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGTCATGGATATTGTCCTC	0.448000													5	489					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917735	2917735	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2917735C>A	ENST00000306908.5	+	4	1264	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAAGCCTTCACTTGGT	0.438000													45	140					2.18419e-29	3.08821e-29	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85468686	85468686	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:85468686G>A	ENST00000316356.4	-	2	647	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	28	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTTCTTCGGCCCTCTTCAG	0.478000													12	1018					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477948	88477948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:88477948G>T	ENST00000267549.3	+	2	1315	c.757G>T	c.(757-759)Gag>Tag	p.E253*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	253					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTTTAGAGCATGCTGT	0.383000													5	252					1.23904e-05	1.45652e-05	1	1	0
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	BLK_ENST00000529894.1_Silent_p.G182G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	253	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607000													7	58					0.335167	0.337822	1	1	0
MYL1	4632	broad.mit.edu	37	2	211163200	211163200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:211163200C>T	ENST00000352451.3	-	3	395	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.G39D	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	83	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGGATTTGTGCCCAGAGCTCG	0.463000													4	168					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345617	23345617	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:23345617G>T	ENST00000338121.5	+	2	674	c.597G>T	c.(595-597)aaG>aaT	p.K199N	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	199					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCCACCGAAGAAGTCCAAGG	0.527000													6	272					0.00307968	0.00337835	1	1	0
OR52B6	340980	broad.mit.edu	37	11	5602518	5602518	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5602518G>T	ENST00000345043.2	+	1	412	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCCATGGCCTTTGACCG	0.522000													37	322					9.80977e-26	1.36799e-25	1	1	0
FRYL	285527	broad.mit.edu	37	4	48523136	48523136	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48523136C>A	ENST00000537810.1	-	55	8222	c.7618G>T	c.(7618-7620)Gtg>Ttg	p.V2540L	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L			O94915	FRYL_HUMAN	FRY-like	2540					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTGAAGCACTTCCTCTGTT	0.488000													7	351					0.00307968	0.00337835	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110777203	110777203	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:110777203G>A	ENST00000395494.2	+	11	2019	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M|ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	513					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAAGATGTTTGTGAAGGCAAG	0.373000													3	45					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463969	66463969	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:66463969G>A	ENST00000533211.1	-	21	4388	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	SPTBN2_ENST00000529997.1_Silent_p.L1353L|SPTBN2_ENST00000309996.2_Silent_p.L1353L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1353					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCGACACCAGGGCTTTCAGC	0.577000													5	757					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16254213	16254213	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:16254213G>A	ENST00000339732.5	+	6	1838	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	GALNT15_ENST00000437509.1_Silent_p.L445L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGACCTGGCTGGGGTCATTCA	0.562000													6	796					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:72685542G>A	ENST00000425256.1	-	0	116					NR_002164.1																						ACGTTACCATGACAAAAGCAG	0.463000													4	258					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632411	67632411	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:67632411C>T	ENST00000272342.5	+	5	2727	c.2597C>T	c.(2596-2598)gCt>gTt	p.A866V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	866						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CTGGAGGAAGCTGTTGGACAG	0.333000													3	36					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246727	7246727	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:7246727G>A	ENST00000158762.3	+	6	580	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	125	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGGCTCGCCGGGATTTCTGG	0.632000													4	177					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722041	56722041	+	Missense_Mutation	SNP	G	G	A	rs143838622		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56722041G>A	ENST00000425394.2	-	4	930	c.554C>T	c.(553-555)aCt>aTt	p.T185I	PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	185					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCCTGGACAGTGTTAAGATC	0.507000													5	376					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42788641	42788641	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:42788641A>T	ENST00000379274.2	+	25	3035		c.e25-1		DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000337343.4_Splice_Site			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTTGCTTTTAGGATATGTGA	0.358000													5	147					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758861	55758861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:55758861C>T	ENST00000395863.3	-	4	1380	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					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)			CCCCGTGGACCGGATGCTGCG	0.637000													5	776					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749927	56749927	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56749927G>A	ENST00000314128.4	-	3	297	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	92					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGAATGTCCCGGCAGAATTTC	0.512000													6	433					0	0	1	0	0
MGP	4256	broad.mit.edu	37	12	15038693	15038693	+	Silent	SNP	G	G	A	rs142282008		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:15038693G>A	ENST00000539261.1	-	1	167	c.33C>T	c.(31-33)gcC>gcT	p.A11A	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	11					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CCGCTAAGGCGGCCAGGATGG	0.478000													4	203					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630070	67630070	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:67630070C>A	ENST00000272342.5	+	4	636	c.506C>A	c.(505-507)gCa>gAa	p.A169E	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	169						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCCAGTGTAGCAAAAGGAAAA	0.353000													7	66					0.0381472	0.0398705	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604589	140604589	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140604589C>A	ENST00000239449.4	+	1	1512	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V	PCDHB14_ENST00000515856.2_Silent_p.V351V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTTGGTCTCCATCAACG	0.657000													3	79					0.184627	0.188705	1	1	0
KIF19	124602	broad.mit.edu	37	17	72345343	72345343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:72345343C>T	ENST00000389916.4	+	10	1206	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	356					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCTCCTGAACGTCTCCTACC	0.617000													5	77					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440676	145440676	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:145440676G>A	ENST00000369317.4	+	6	1210	c.876G>A	c.(874-876)ctG>ctA	p.L292L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	292					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGACCTGCCCCTGGTAA	0.498000													8	116					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350146	30350146	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:30350146G>T	ENST00000359358.4	-	2	847	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	137	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCGAGCACCAGGCGCAGCCCG	0.657000													4	136					0.000602214	0.000670738	1	1	0
ALOX5AP	241	broad.mit.edu	37	13	31330136	31330136	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:31330136C>T	ENST00000380490.3	+	4	395	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	99					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTACTTTGTCGGTTACCTAG	0.448000													4	164					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97599721	97599721	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:97599721G>T	ENST00000275053.4	-	23	3673	c.3408C>A	c.(3406-3408)aaC>aaA	p.N1136K	MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1136					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTATTGCAGGTTCTCTGTGG	0.438000													150	376					1.06673e-69	1.56024e-69	1	1	0
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:73422349C>A	ENST00000553457.1	+	11	1114	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547000													15	402					8.00594e-06	9.54338e-06	1	1	0
NAV2	89797	broad.mit.edu	37	11	20089935	20089935	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089935G>A	ENST00000396085.1	+	22	5335	c.4974G>A	c.(4972-4974)ctG>ctA	p.L1658L	NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000311043.8_Silent_p.L722L|NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000396087.3_Silent_p.L1714L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1714	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACCCAGCTGACAGCAAATG	0.512000													15	84					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60773849	60773849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:60773849C>T	ENST00000370823.3	+	5	646	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TACCCCTGGACAGCCAGGACA	0.627000													5	58					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952163	124952163	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:124952163C>A	ENST00000360647.4	-	9	1892	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H	ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	469					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTTCAAAAACTGCATGGCAT	0.443000													13	304					1.49906e-05	1.75811e-05	1	1	0
KANK1	23189	broad.mit.edu	37	9	738458	738458	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S1011S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527000													6	899					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:25611305G>T	ENST00000330688.4	+	4	926	c.505G>T	c.(505-507)Gag>Tag	p.E169*	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*|RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488000													5	80					1.23904e-05	1.45652e-05	1	1	0
ZP2	7783	broad.mit.edu	37	16	21209092	21209092	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:21209092G>A	ENST00000574002.1	-	19	2572	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	697					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTACCTCGTGAGCCAACCTC	0.473000													9	518					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													3	63					0.184627	0.188705	1	1	0
IQCH	64799	broad.mit.edu	37	15	67677314	67677314	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:67677314C>T	ENST00000335894.4	+	11	1479	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N|IQCH_ENST00000546225.1_Silent_p.N219N	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	471										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCGATTTCAACACACAGCAGA	0.418000													4	245					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93542882	93542882	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:93542882G>T	ENST00000251871.3	+	11	1871		c.e11-1		MED17_ENST00000533367.1_Splice_Site	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCATTCACAGATGTCACAGC	0.463000													11	153					1.08611e-07	1.33534e-07	1	1	0
CNOT7	29883	broad.mit.edu	37	8	17102635	17102635	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:17102635G>T	ENST00000361272.4	-	2	325	c.27C>A	c.(25-27)agC>agA	p.S9R	CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	9					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AAATTCTTTGGCTATGATCTA	0.383000													14	83					3.45872e-05	4.01938e-05	1	1	0
CYP2R1	120227	broad.mit.edu	37	11	14900719	14900719	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:14900719C>A	ENST00000532378.1	-	5	1426	c.572G>T	c.(571-573)cGa>cTa	p.R191L	CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	424					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GTCCAGAAATCGCTCAGGATG	0.403000													61	255					3.28615e-30	4.6592e-30	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53560368	53560368	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:53560368T>A	ENST00000342160.3	-	83	13484	c.13027A>T	c.(13027-13029)Aat>Tat	p.N4343Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4343	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGATTAAAACTAAGG	0.507000													5	163					0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133985015	133985015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:133985015T>A	ENST00000378509.4	-	7	787		c.e7-2			NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CCCCAATACCTAAAAAACAAA	0.378000													7	250					0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386955	187386955	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:187386955C>T	ENST00000287641.3	-	2	356	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	83					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCAGCTCAAGCCTCATTTCAT	0.517000													11	1405					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013287	57013287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:57013287G>T	ENST00000370706.4	+	10	2648	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*	ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCATGATCCTGAGAGTGCACA	0.423000													3	63					0.004672	0.00507046	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592000													9	29					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107050819	107050819	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:107050819C>A	ENST00000409886.3	-	15	2157	c.2070G>T	c.(2068-2070)agG>agT	p.R690S	RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	690					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCTGCCTTCCTGTGAAAAA	0.368000													5	60					0.248553	0.252018	1	1	0
DGKI	9162	broad.mit.edu	37	7	137237231	137237231	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:137237231C>T	ENST00000453654.1	-	20	1670	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	677	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATCCACTTGCATGGGGATGG	0.517000													8	821					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101294527	101294527	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:101294527G>T	ENST00000342624.5	-	7	937	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	208						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATACTCAGCAGCACCCAGAAG	0.502000													40	152					4.45467e-35	6.38711e-35	1	1	0
SOGA2	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:8825455C>A	ENST00000359865.3	+	15	4089	c.3947C>A	c.(3946-3948)aCg>aAg	p.T1316K	SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1626																	GGGTCCCGGACGATGGGGACC	0.612000													5	26					0.0215528	0.022713	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	864					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488000													4	130					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160395071	160395071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160395071G>A	ENST00000368061.2	+	8	1943	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	490					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGTCAGCACCAAGAAG	0.527000													4	346					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152081372G>A	ENST00000368804.1	-	2	4320	c.4321C>T	c.(4321-4323)Cgc>Tgc	p.R1441C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTCCTGGCGGCGCACCTGC	0.577000											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	4	120					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45000995	45000995	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:45000995C>T	ENST00000429094.2	-	15	2124	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	NELL2_ENST00000549027.1_Silent_p.V539V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000437801.2_Silent_p.V590V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	540	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAGGCACACACATTAGCGG	0.383000													23	71					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535099	110535099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:110535099G>T	ENST00000378402.5	+	75	12414	c.12310G>T	c.(12310-12312)Gta>Tta	p.V4104L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4104					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGCCTTCGGTAAAGGCAAC	0.458000										HNSCC(38;0.096)			11	69					3.99206e-14	5.34726e-14	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38941494	38941494	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38941494C>T	ENST00000450244.1	-	13	2111	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000302328.3_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	638					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCAGCCTCGGCGAAAGTAGTG	0.423000													4	183					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097418	124097418	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:124097418C>T	ENST00000422452.2	-	1	248	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM1_ENST00000371130.3_Missense_Mutation_p.R62K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTCCTCTTTCTACTCTGGCT	0.368000													5	321					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61					2.0095e-06	2.42378e-06	1	1	0
NUP188	23511	broad.mit.edu	37	9	131733230	131733230	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:131733230G>T	ENST00000372577.2	+	11	1127	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	369					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCAGTGGGGGAAATGATGTG	0.488000													19	377					3.62473e-10	4.65906e-10	1	1	0
FYB	2533	broad.mit.edu	37	5	39153708	39153708	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:39153708T>A	ENST00000351578.6	-	3	1326		c.e3-2		FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGCTAGTACCTAAGAAGCAAA	0.423000													5	168					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128381	90128381	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:90128381T>C	ENST00000407825.1	-	7	849	c.212A>G	c.(211-213)gAg>gGg	p.E71G	PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	277	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AATTCGGCCCTCATAGGGGCC	0.557000													5	669					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253426	65253426	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:65253426C>A	ENST00000455586.2	-	2	428	c.302G>T	c.(301-303)aGc>aTc	p.S101I	VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I|VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	101	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTGCTCAATTGGAG	0.532000													8	408					1.76689e-08	2.19353e-08	1	1	0
PRC1	9055	broad.mit.edu	37	15	91517866	91517866	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:91517866T>C	ENST00000361188.5	-	10	2510	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.A433A|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000442656.2_Silent_p.A392A			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	433	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCATTGTTCTGCCACATACT	0.433000													33	4648					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962726	69962726	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:69962726T>C	ENST00000305231.7	+	1	534	c.488T>C	c.(487-489)cTa>cCa	p.L163P	UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	163					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCTGAGCTATTTAACATA	0.383000													36	351					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809327	26809327	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:26809327G>T	ENST00000381340.3	-	19	2763	c.2347C>A	c.(2347-2349)Ctc>Atc	p.L783I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	783					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGCATGTGGAGCATGAGGCGA	0.552000													10	361					9.70103e-10	1.24066e-09	1	1	0
GCLC	2729	broad.mit.edu	37	6	53364920	53364920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:53364920A>G	ENST00000229416.6	-	15	2108	c.1625T>C	c.(1624-1626)cTt>cCt	p.L542P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	542					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CATGTTTTCAAGGTAAGAGTT	0.428000													5	436					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154999	111154999	+	Missense_Mutation	SNP	G	G	A	rs146857088		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:111154999G>A	ENST00000280325.4	+	3	353	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	69										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGAGACTACCGGCCTCCGGCG	0.692000													4	201					0	0	1	0	0
NSA2	10412	broad.mit.edu	37	5	74065165	74065165	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:74065165T>A	ENST00000296802.5	+	3	687	c.318T>A	c.(316-318)atT>atA	p.I106I	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	106	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCAATATGATTAAACAGAAAA	0.373000													8	439					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595825	38595825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38595825G>T	ENST00000413689.1	-	27	4951	c.4758C>A	c.(4756-4758)taC>taA	p.Y1586*	SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1586					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTTGGTGAAGTAGTAGTGGC	0.532000													50	425					7.34454e-26	1.02703e-25	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168295	10168295	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:10168295T>C	ENST00000396502.1	+	5	777	c.649T>C	c.(649-651)Tgg>Cgg	p.W217R	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGTTGGTTCTGGGAAGATGG	0.418000													4	261					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24881964	24881964	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:24881964A>G	ENST00000313367.2	-	13	1786	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000352860.1_Silent_p.T414T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	445					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAGGGAGTCAGTGATGGAGA	0.383000													9	662					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824601	102824601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102824601G>A	ENST00000370200.5	+	5	1165	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	280					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	p.G280D(1)		endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AACTCTACAGGCATCCCCCAG	0.557000													5	626					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369159	139369159	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:139369159G>A	ENST00000313050.7	-	1	2982	c.2909C>T	c.(2908-2910)gCa>gTa	p.A970V	SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	792	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGCCGTGTGCAGGTGGAAC	0.493000													19	17					0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166829540	166829540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:166829540G>T	ENST00000367874.4	-	6	668	c.575C>A	c.(574-576)tCa>tAa	p.S192*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	192					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTTCCTTCTTGACACAACTGA	0.368000													12	92					2.61681e-11	3.41528e-11	1	1	0
FDX1	2230	broad.mit.edu	37	11	110327646	110327646	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:110327646A>G	ENST00000260270.2	+	3	553	c.315A>G	c.(313-315)gcA>gcG	p.A105A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	105	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTCAGGTGCATGTGAGGGAA	0.418000													6	349					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028864	37028864	+	Missense_Mutation	SNP	G	G	T	rs147158965	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:37028864G>T	ENST00000358047.3	+	1	2433	c.2381G>T	c.(2380-2382)cGt>cTt	p.R794L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	794										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGTCGAGTGTCC	0.622000													6	64					3.35478e-16	4.55355e-16	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33355682	33355682	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:33355682G>A	ENST00000023064.4	-	3	279	c.87_splice	c.e3-1	p.L30_splice	SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	30					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATGAGGCCCAGCTGGGTGTGG	0.647000													6	286					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532655	113532655	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:113532655A>G	ENST00000257600.3	+	6	1792	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	430					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGCTTCGGCACAAGGGCGTG	0.652000													8	137					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20346399	20346399	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:20346399C>A	ENST00000338910.4	-	2	816	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	219	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GCAAGAATGCCCCATCACCAC	0.423000													75	616					6.5209e-17	8.8747e-17	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31282301	31282301	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:31282301G>A	ENST00000544665.3	+	6	525	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	152	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAGTGACATTGCCTTCTTGAT	0.438000													19	1180					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96460276	96460276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:96460276G>T	ENST00000274382.4	-	2	435	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	47										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ACTTGGGAATGCAGCCTTCTG	0.488000													10	270					1.33987e-11	1.75772e-11	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367240	128367240	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:128367240C>T	ENST00000389524.4	+	23	3027	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACATCCGGCGGCCCCTCCG	0.587000													3	54					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4628042	4628042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:4628042C>A	ENST00000261250.3	-	7	820	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	245				E -> G (in Ref. 2; CAE46058).						NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACTTTAATTTCCTCACTAAAA	0.299000													9	35					0.335167	0.337822	1	1	0
GUF1	60558	broad.mit.edu	37	4	44696433	44696433	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:44696433G>T	ENST00000281543.5	+	14	1812	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	540					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTAGTTTTGATTACGAAGA	0.343000													4	44					2.56e-06	3.07321e-06	1	1	0
YTHDF2	51441	broad.mit.edu	37	1	29069235	29069235	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:29069235C>G	ENST00000373812.3	+	4	815	c.453C>G	c.(451-453)agC>agG	p.S151R	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	151					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATATAGTAGCAATTATGCTT	0.448000													203	129					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25138782	25138782	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:25138782A>G	ENST00000320152.6	-	9	697	c.669T>C	c.(667-669)taT>taC	p.Y223Y	PRTFDC1_ENST00000376378.1_3'UTR	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	223					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TTTAGACTCGATATTTTTCTT	0.398000													4	335					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171394541	171394541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:171394541C>T	ENST00000342215.6	-	16	1866	c.1751G>A	c.(1750-1752)tGg>tAg	p.W584*	PLD1_ENST00000356327.5_Silent_p.V655V|PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTGACGTGCCACATCACGAG	0.542000													53	512					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379738	154379738	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:154379738C>T	ENST00000406326.1	+	6	1409	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCTCACCCCGGGGATAAT	0.592000													6	951					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169185	113169185	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:113169185G>A	ENST00000295872.4	-	15	2580	c.2321C>T	c.(2320-2322)aCt>aTt	p.T774I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	774					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACCAACCAGTCCATGCTCT	0.373000													4	128					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799370	5799370	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5799370C>A	ENST00000317093.2	-	1	527	c.495G>T	c.(493-495)atG>atT	p.M165I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAAAGGAATCATCAGCAATA	0.463000													5	347					0.0215528	0.022713	1	1	0
STAT6	6778	broad.mit.edu	37	12	57500503	57500503	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57500503G>T	ENST00000300134.3	-	5	776	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M|STAT6_ENST00000454075.3_Missense_Mutation_p.L151M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	151					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCTTCTGCAGGGCTTCTCGG	0.577000													38	386					1.69475e-38	2.45065e-38	1	1	0
ZNF17	7565	broad.mit.edu	37	19	57932141	57932141	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:57932141C>T	ENST00000307658.7	+	4	1550	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	ZNF17_ENST00000601808.1_Silent_p.S427S|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACACTTCCACACTCATTA	0.383000													4	165					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961602	68961602	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:68961602C>A	ENST00000261778.1	+	13	2271	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CCCATGGAGCCTTTGCCACTG	0.493000													62	351					9.12251e-31	1.29703e-30	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143231	56143231	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:56143231T>C	ENST00000302270.1	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCAACTTGGGTTTGATCCTAC	0.423000													5	730					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567000													17	151					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089937	9089937	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9089937T>C	ENST00000397910.4	-	1	2081	c.1878A>G	c.(1876-1878)ctA>ctG	p.L626L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	626	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGTGAGTAGGTGGGTTG	0.577000													6	318					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688351	109688351	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:109688351G>T	ENST00000277225.5	+	3	2447	c.2158G>T	c.(2158-2160)Gtt>Ttt	p.V720F	ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	720					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGATCAATGTTGAGGATGA	0.463000													53	558					2.78941e-39	4.04504e-39	1	1	0
TG	7038	broad.mit.edu	37	8	133923676	133923676	+	Nonsense_Mutation	SNP	C	C	T	rs114157534	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:133923676C>T	ENST00000220616.4	+	19	4097	c.4057C>T	c.(4057-4059)Cag>Tag	p.Q1353*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1353					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCTCTGTGCAGGTGGGTTG	0.478000													5	584					0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383000													7	288					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182295	57182295	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:57182295G>T	ENST00000504228.1	+	6	2732	c.2627G>T	c.(2626-2628)gGa>gTa	p.G876V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V			Q6ZU35	K1211_HUMAN	KIAA1211	876										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCACCGGAGACAGCGCG	0.572000													5	46					3.59834e-05	4.14379e-05	1	1	0
ATG13	9776	broad.mit.edu	37	11	46690111	46690111	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:46690111G>C	ENST00000434074.1	+	14	1904	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	ATG13_ENST00000451945.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000359513.4_Missense_Mutation_p.E405D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	405					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TGGAGCTGGAGGATACCGATC	0.517000													122	93					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69733351	69733351	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:69733351C>A	ENST00000260363.4	+	18	2429	c.2312C>A	c.(2311-2313)aCt>aAt	p.T771N	KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	771					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATGTACTGGACTGAAGGCAGG	0.468000													12	477					1.62849e-17	2.22226e-17	1	1	0
A2M	2	broad.mit.edu	37	12	9224978	9224978	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:9224978G>T	ENST00000318602.7	-	31	4387	c.4080C>A	c.(4078-4080)agC>agA	p.S1360R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1360					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGATTTGGAAGCTGGTGTGGG	0.438000													10	446					5.50884e-06	6.58215e-06	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460483	1460483	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1460483G>A	ENST00000359801.3	-	2	349	c.313C>T	c.(313-315)Cca>Tca	p.P105S	SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	105	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAATTCAGTGGTTCTGATGTC	0.453000													5	423					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756191	3756191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:3756191G>A	ENST00000378230.3	-	7	1040	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	239						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCAGCAATGGCTTGTTTTAG	0.353000													5	222					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59064302	59064302	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:59064302C>G	ENST00000507116.1	-	1	169	c.34G>C	c.(34-36)Gta>Cta	p.V12L	PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	ACTTCAGGTACTGTTAAAGTG	0.517000													4	311					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57484919	57484919	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57484919G>A	ENST00000300131.3	+	2	473	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000554718.1_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	32					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGCCCGAGCCATGGCA	0.607000													3	73					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490408	154490408	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:154490408T>G	ENST00000369454.3	-	2	622	c.322A>C	c.(322-324)Aaa>Caa	p.K108Q		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	108					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACGTGTACTTTGGTCTCTTCT	0.493000													4	305					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150916465	150916465	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:150916465G>A	ENST00000368963.1	+	7	848	c.743G>A	c.(742-744)gGc>gAc	p.248_248insD	SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Silent_p.R315R			Q15047	SETB1_HUMAN	SET domain, bifurcated 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTTGCCGGCCACGTGAGT	0.413000													4	111					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33590973	33590973	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:33590973T>C	ENST00000252015.2	-	19	2459	c.2370A>G	c.(2368-2370)atA>atG	p.I790M	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	790					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCCTGTCTATGTCCATGT	0.597000													3	117					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11701058	11701058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11701058G>T	ENST00000262442.3	+	43	8436	c.8368G>T	c.(8368-8370)Gaa>Taa	p.E2790*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2790	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCACAATGAAGTCAACAC	0.483000													6	202					1.06961e-07	1.31824e-07	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333000													3	15					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883471	12883471	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:12883471G>A	ENST00000264827.5	-	6	582	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	138	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GATTCTTCCAGCGTCATGATT	0.572000													5	742					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152112258	152112258	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:152112258C>A	ENST00000331426.5	-	2	155		c.e2-1			NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43								nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTGATGCCTGTAAGAGAA	0.358000													6	58					0.0215528	0.022713	1	1	0
TSR1	55720	broad.mit.edu	37	17	2227510	2227510	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:2227510G>A	ENST00000301364.4	-	15	3474	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	799					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCCCTTGAGGCACTGTTGAA	0.463000													5	822					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458628	90458628	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:90458628G>T	ENST00000603238.1	+	2	304	c.304G>T	c.(304-306)Gat>Tat	p.102_102insY																								GCAGCCTGAAGATTTTGCAAC	0.507000													10	1062					0.000219431	0.000249309	1	1	0
ETV4	2118	broad.mit.edu	37	17	41606987	41606987	+	Missense_Mutation	SNP	C	C	T	rs148198572		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:41606987C>T	ENST00000319349.5	-	11	1311	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	338					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGGGCACCCCGGCGCTGGTA	0.582000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								3	60					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:43579536G>A	ENST00000406487.1	-	3	777	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R227C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000													8	427					0	0	1	0	0
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373000													4	143					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27215502	27215502	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:27215502G>T	ENST00000374135.4	-	2	726	c.526C>A	c.(526-528)Ctc>Atc	p.L176I		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	176							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TTGGAAAGGAGGTTGATGTGG	0.537000													4	276					1.23904e-05	1.45652e-05	1	1	0
DPT	1805	broad.mit.edu	37	1	168698204	168698204	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:168698204T>C	ENST00000367817.3	-	1	298	c.209A>G	c.(208-210)gAc>gGc	p.D70G		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	70	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCATTGTCTGTCAGAACCTTC	0.582000													4	90					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13251191	13251191	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:13251191T>C	ENST00000276297.4	-	4	1594	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S	DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	395					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCAGATCCTGATTCCAGAT	0.428000													8	310					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678590	100678590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:100678590T>C	ENST00000306151.4	+	3	3957	c.3893T>C	c.(3892-3894)cTt>cCt	p.L1298P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1298	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGCACCCTTTTAACAACT	0.478000													4	174					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419442	419442	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:419442G>T	ENST00000354200.4	-	8	1147	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	334					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GGCCTCTGCTGGGCTGATGCC	0.547000													6	105					0.000157383	0.000179615	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166900434	166900434	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:166900434G>T	ENST00000423058.2	-	11	1805	c.1788C>A	c.(1786-1788)agC>agA	p.S596R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	596						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTCAAAGGTGCTGTGCTCAT	0.507000													54	417					1.27862e-28	1.80282e-28	1	1	0
MMP2	4313	broad.mit.edu	37	16	55527162	55527162	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:55527162G>A	ENST00000219070.4	+	9	1938	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	477	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTATTTGATGGCATCGCTCA	0.567000													7	490					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51980200	51980200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51980200C>T	ENST00000417220.2	+	10	1605	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCAGGCCCACTCCAAACT	0.587000													14	142					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131958	91131958	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:91131958C>A	ENST00000373094.1	+	2	1564	c.719C>A	c.(718-720)aCt>aAt	p.T240N	PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAGTGTTACTGATACAAAT	0.428000													4	164					0.00909568	0.0097673	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23509581	23509581	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:23509581C>A	ENST00000296682.3	+	3	254	c.72C>A	c.(70-72)gtC>gtA	p.V24V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	24	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCTAGGTCAAAGATGCCT	0.453000										HNSCC(3;0.000094)			5	770					0.27861	0.281934	1	1	0
PEX7	5191	broad.mit.edu	37	6	137191043	137191043	+	Missense_Mutation	SNP	G	G	A	rs121909152		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:137191043G>A	ENST00000541292.1	+	7	735	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	PEX7_ENST00000318471.4_Missense_Mutation_p.G217R			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	217			G -> R (in RCDP1; could be a polymorphism).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.G217W(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTGGTGACCGGGGCGGTTGA	0.413000													6	170					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21901549	21901549	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:21901549A>G	ENST00000328843.6	+	70	11333	c.11302A>G	c.(11302-11304)Atg>Gtg	p.M3768V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3768					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTATCCTGATGGAGAGCAT	0.517000									Kartagener syndrome				7	456					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123503319	123503319	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:123503319G>A	ENST00000369043.3	-	12	1519	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000224652.6_Missense_Mutation_p.A478V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	478					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGCATGATGGCTCTCTTGTG	0.478000													4	421					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53589220	53589220	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53589220C>A	ENST00000267082.5	-	9	1330	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S|ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	367	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCCAACTGCAGACTTAGGA	0.542000													11	549					0.0931896	0.097001	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7619529	7619529	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:7619529C>T	ENST00000221249.6	+	24	2871	c.2440C>T	c.(2440-2442)Ccc>Tcc	p.P814S	PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	853					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGCTGACGCCCTGGACCGT	0.667000													6	242					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279236	74279236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:74279236G>A	ENST00000295897.4	+	8	1032	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	315	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCACTGCATTGCCGAAGTGGA	0.423000													7	182					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324168	158324168	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:158324168T>C	ENST00000368160.3	+	2	60	c.58_splice	c.e2-1	p.A20_splice	CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	20					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCTCTCAGCTCCCCAGGCTC	0.498000													7	538					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9028258	9028258	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9028258G>T	ENST00000397910.4	-	11	36737	c.36534C>A	c.(36532-36534)ccC>ccA	p.P12178P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12180	SEA 1.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGGTGTAGGGGCCCAGCT	0.562000													7	984					0.00909568	0.0097673	1	1	0
MEFV	4210	broad.mit.edu	37	16	3304364	3304364	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:3304364G>A	ENST00000219596.1	-	2	743	c.704C>T	c.(703-705)tCg>tTg	p.S235L	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	235					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CATCTTTCCCGAGGGCAGGTA	0.627000													12	1018					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106857698	106857698	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:106857698C>A	ENST00000286398.7	+	2	321	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	11					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAGGGATTCAAGTCCTATG	0.433000													4	171					0.014758	0.0156823	1	1	0
MBD4	8930	broad.mit.edu	37	3	129152054	129152054	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129152054T>A	ENST00000429544.2	-	6	1625	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	483					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AGGATACTTCTCCAGAAACTT	0.438000								Base excision repair (BER), DNA glycosylases					4	242					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874328	24874328	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:24874328C>T	ENST00000396432.2	-	26	5376	c.4890G>A	c.(4888-4890)ggG>ggA	p.G1630G		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1629	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACAGGCCGCCCTTCACTGA	0.567000													11	482					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089906	20089906	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089906G>A	ENST00000396085.1	+	22	5306	c.4945G>A	c.(4945-4947)Gag>Aag	p.E1649K	NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1705	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCTCCCAGGAGAAAGTTTC	0.522000													29	87					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620562	7620562	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:7620562T>C	ENST00000486284.1	+	8	2243	c.1969T>C	c.(1969-1971)Ttc>Ctc	p.F657L	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	657					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTGTGTTCTTTCCGGCGAGT	0.458000													4	193					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:189349364G>A	ENST00000264731.3	+	1	149	c.60G>A	c.(58-60)caG>caA	p.Q20Q	TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403000										HNSCC(45;0.13)			6	326					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693790	99693790	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:99693790C>G	ENST00000303887.5	-	11	1847	c.1201_splice	c.e11-1	p.S401_splice	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	401	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TGTGTACTGGCCTGGAAGAGA	0.562000													9	353					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532000													90	58					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627114	43627114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:43627114G>A	ENST00000332857.6	-	4	1601	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		ACTTTATTCTGCGATGCAGGG	0.502000													7	391					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	152870479	152870479	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:152870479G>T	ENST00000285900.5	+	1	374	c.31G>T	c.(31-33)Ggt>Tgt	p.G11C	GRIA1_ENST00000340592.5_Missense_Mutation_p.G11C|GRIA1_ENST00000518142.1_Missense_Mutation_p.G11C|GRIA1_ENST00000518862.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	11					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTGCACCGGTTTCCTAGG	0.527000													7	696					1.76689e-08	2.19353e-08	1	1	0
PLAG1	5324	broad.mit.edu	37	8	57079698	57079698	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:57079698G>A	ENST00000316981.3	-	5	1086	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	203	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACCACCATGTGTCTCCGGACA	0.483000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								89	233					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815053	167815053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:167815053C>A	ENST00000367848.1	-	21	2976	c.2479G>T	c.(2479-2481)Gag>Tag	p.E827*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	919					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCGATCACCTCATTCTCCAGT	0.502000													21	153					1.37878e-21	1.89675e-21	1	1	0
RIMS1	22999	broad.mit.edu	37	6	72678723	72678723	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:72678723A>G	ENST00000264839.7	+	2	202	c.202A>G	c.(202-204)Aaa>Gaa	p.K68E	RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	68	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCCTGCAAAACACCAAG	0.458000													7	276					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1042182	1042182	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:1042182G>T	ENST00000358495.3	-	2	181	c.43C>A	c.(43-45)Cat>Aat	p.H15N	RAD52_ENST00000536177.1_Missense_Mutation_p.H15N|RAD52_ENST00000541619.1_Missense_Mutation_p.H15N|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000430095.2_Missense_Mutation_p.H15N|RAD52_ENST00000544742.1_Missense_Mutation_p.H15N|RAD52_ENST00000545564.1_Missense_Mutation_p.H15N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	15					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCAGCAGGATGGCTGTCACGT	0.458000								Homologous recombination					4	372					2.74318e-10	3.53488e-10	1	1	0
KLHL13	90293	broad.mit.edu	37	X	117043719	117043719	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:117043719G>T	ENST00000371876.1	-	4	3179	c.758C>A	c.(757-759)aCt>aAt	p.T253N	KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N|KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	304	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTATTGTCAGTTCTCATGAA	0.418000													5	248					3.59834e-05	4.14379e-05	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460378	1460378	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1460378T>C	ENST00000359801.3	-	2	454	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	140	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATCCGATTTCATTTCTGAG	0.473000													8	1043					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16409650	16409650	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:16409650C>A	ENST00000354981.2	-	14	1580		c.e14-1		KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTGACCTTCCTGGGAAGAAA	0.393000													6	232					0.000274275	0.000308863	1	1	0
IL11RA	3590	broad.mit.edu	37	9	34660928	34660928	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:34660928G>A	ENST00000555003.1	+	12	2603	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	416						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GTGGACAGGCGTCCAGGTGAG	0.522000													4	195					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835367	38835367	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38835367C>T	ENST00000449082.2	-	1	134	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	45					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTCTTGGTCCTTCTGCTCCC	0.552000													5	259					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587000													20	705					0	0	1	0	0
MIR518E	574487	broad.mit.edu	37	19	54233120	54233120	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:54233120C>T	ENST00000385252.1	+	0	29					NR_030209.1																						TAGAGGGAAGCGCTTTCTGTT	0.428000													5	321					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114341111	114341111	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:114341111C>A	ENST00000407693.2	-	7	878	c.616G>T	c.(616-618)Gcg>Tcg	p.A206S	PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	206					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCAGGAGACGCTTTCTTCAAG	0.358000													5	78					0.00116845	0.00129573	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:198950684C>T	ENST00000428675.1	+	2	2841	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438000													44	86					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:133098622G>A	ENST00000515826.1	+	3	190	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552000													13	731					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502915	140502915	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140502915C>T	ENST00000194152.1	+	1	1335	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTCAATGACAACGCCCCCG	0.597000													27	147					0	0	1	0	0
IFNB1	3456	broad.mit.edu	37	9	21077375	21077375	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:21077375G>A	ENST00000380232.2	-	1	568	c.494C>T	c.(493-495)aCc>aTc	p.T165I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	165					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCTGACTATGGTCCAGGCACA	0.468000													5	601					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917768	160917768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160917768G>T	ENST00000368029.3	-	7	833	c.776C>A	c.(775-777)gCc>gAc	p.A259D	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	259	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGGCGTTGGCTGCTCTCTC	0.458000													7	60					5.4927e-09	6.92026e-09	1	1	0
LIN37	55957	broad.mit.edu	37	19	36245353	36245353	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:36245353G>A	ENST00000301159.9	+	9	1083	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	240							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGATCCTACGAGAGATGTAC	0.587000													3	37					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12902559	12902559	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:12902559C>T	ENST00000361905.4	+	7	1093	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	158	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGTTCTGGCCGGGAATGATT	0.527000													4	274					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249767	238249767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:238249767C>T	ENST00000295550.4	-	38	8244	c.7792G>A	c.(7792-7794)Gga>Aga	p.G2598R	COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2598	Nonhelical region.				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)		CTGCCAAATCCACAGGATGGG	0.532000													11	119					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43494079	43494079	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43494079G>T	ENST00000300215.3	-	12	2423	c.1966C>A	c.(1966-1968)Ctg>Atg	p.L656M	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000441366.2_Missense_Mutation_p.L626M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	626					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCCCTTCCCAGGATGGAGATC	0.552000													31	1223					7.88262e-20	1.08147e-19	1	1	0
IGFL2	147920	broad.mit.edu	37	19	46663969	46663969	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:46663969G>A	ENST00000434646.2	+	4	496	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	58						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGACGCCATCGTGTCCCTGAG	0.577000													4	518					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512000										HNSCC(10;0.0054)			5	231					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39432934	39432934	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:39432934C>A	ENST00000273158.4	+	4	656	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	93					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCTGCAGTCCATTGTGAGAT	0.468000													17	561					5.35267e-07	6.53359e-07	1	1	0
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:23931741G>T	ENST00000331837.4	-	1	709	c.624C>A	c.(622-624)agC>agA	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637000									Prader-Willi syndrome				9	98					2.27111e-07	2.78553e-07	1	1	0
FLG2	388698	broad.mit.edu	37	1	152324175	152324175	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152324175G>A	ENST00000388718.5	-	3	6159	c.6087C>T	c.(6085-6087)ggC>ggT	p.G2029G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2029							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCACTGTGGCCAGATGCCC	0.537000													16	506					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9580692	9580692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:9580692G>A	ENST00000460593.1	+	8	1860	c.722G>A	c.(721-723)tGt>tAt	p.C241Y	CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	278					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCAAGAAGTGTATGGCAGTG	0.373000													4	97					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409923	98409923	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:98409923G>T	ENST00000186436.5	-	30	3708	c.3480C>A	c.(3478-3480)aaC>aaA	p.N1160K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1160						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGAAGGGCGGGTTCGAGGCCT	0.473000													9	44					1.58986e-06	1.92219e-06	1	1	0
MCM2	4171	broad.mit.edu	37	3	127327298	127327298	+	Missense_Mutation	SNP	G	G	A	rs144869999		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:127327298G>A	ENST00000265056.7	+	7	1419	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	392					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGGCTGCCCCGCTCCAAGGAC	0.607000													6	489					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55178153	55178153	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55178153G>A	ENST00000391736.1	+	12	1309	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	332						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCAGGTGCTGCCGTGAAGAA	0.612000													5	475					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596443	48596443	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:48596443G>A	ENST00000310248.2	-	1	727	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TGAGCACCATGGGGCTGAGAA	0.547000													6	358					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55106130G>A	ENST00000453777.1	+	4	241	c.70_splice	c.e4-1	p.G24_splice	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587000													18	25					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70530595	70530595	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:70530595C>A	ENST00000357887.3	-	3	2589	c.1836G>T	c.(1834-1836)aaG>aaT	p.K612N	SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron	NM_033262.3	NP_150287.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	612	Calx-beta 2.		E -> Q (in a breast cancer sample; somatic mutation).		cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAAGTAATTCTTGTTTTTCT	0.403000													5	545					0.217242	0.220711	1	1	0
CP	1356	broad.mit.edu	37	3	148904372	148904372	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:148904372C>T	ENST00000264613.6	-	11	2274	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTGTCTCTCCGTTCTCCTCT	0.458000													6	316					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139699235	139699235	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:139699235C>A	ENST00000338005.6	+	8	849	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	272										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTGGACTTCCCCTCGAACCT	0.642000													3	37					0.00909568	0.0097673	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3090749	3090749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:3090749C>A	ENST00000356443.4	-	27	4249	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E1306*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1306						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTAGCTTTTCCATGAACATT	0.378000													63	327					5.80444e-35	8.29904e-35	1	1	0
GUF1	60558	broad.mit.edu	37	4	44696434	44696434	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:44696434A>T	ENST00000281543.5	+	14	1813	c.1619A>T	c.(1618-1620)gAt>gTt	p.D540V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	540					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAGTTTTGATTACGAAGAT	0.343000													4	45					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751279	6751279	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:6751279C>A	ENST00000230859.6	+	11	1367	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	413					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACCACTTCCAGAACACTG	0.587000													19	173					6.44725e-10	8.26612e-10	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33373738	33373738	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:33373738A>G	ENST00000303296.4	+	16	3403	c.3098A>G	c.(3097-3099)cAg>cGg	p.Q1033R	HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1033					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGATTAAACCAGCCTTCTGCA	0.403000													7	506					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358000													22	47					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743241	42743241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42743241G>C	ENST00000263805.4	-	2	1486	c.1160C>G	c.(1159-1161)aCa>aGa	p.T387R	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTGTATTCCTGTAGTTATCAA	0.388000													6	848					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519551	52519551	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52519551T>C	ENST00000270649.6	-	5	1844	c.1300A>G	c.(1300-1302)Aaa>Gaa	p.K434E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGAAGCCTTTACCACATTCA	0.418000													4	264					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575768	52575768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:52575768C>A	ENST00000395489.2	-	11	1514	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	A1CF_ENST00000373995.3_Missense_Mutation_p.R388I|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	380	Required for nuclear localization.				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						GGTGTTACCTCTAACAGAAGG	0.458000													15	129					2.32078e-09	2.9532e-09	1	1	0
IGLV3-19	28797	broad.mit.edu	37	22	23063563	23063563	+	RNA	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:23063563C>A	ENST00000390309.2	+	0	310																											ACACAGCTTCCTTGACCATCA	0.542000													6	129					0.217242	0.220711	1	1	0
UHRF1	29128	broad.mit.edu	37	19	4910785	4910785	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:4910785G>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGAGTTTCCTGGTGTCCACAG	0.547000											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108791	10108791	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:10108791G>A	ENST00000264828.3	-	9	1230	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	382	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCAATCACTGCGGGCTCTCC	0.537000													10	1146					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079650	42079650	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:42079650C>T	ENST00000395925.3	-	7	1099	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	339					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGCACTTGCAGATAAGTGA	0.418000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	182					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784722	11784722	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11784722C>A	ENST00000262442.3	+	55	10866	c.10798C>A	c.(10798-10800)Cag>Aag	p.Q3600K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3600	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACTTGGAGCAGCTGAAGGT	0.587000													14	38					4.7546e-09	6.02013e-09	1	1	0
PPP6C	5537	broad.mit.edu	37	9	127951918	127951918	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:127951918C>A	ENST00000451402.1	-	1	300	c.80G>T	c.(79-81)aGc>aTc	p.S27I	PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron|PPP6C_ENST00000415905.1_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	25					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAAATAGGGCTCACCTTCAG	0.632000													38	114					1.81118e-26	2.53965e-26	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112696345	112696345	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:112696345G>A	ENST00000550722.1	-	20	3040	c.2645C>T	c.(2644-2646)cCg>cTg	p.P882L	HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|RP3-521E19.2_ENST00000547401.1_RNA	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGCACCACACGGGGAACAGCC	0.498000													4	462					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103317	71103317	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:71103317G>A	ENST00000393567.2	-	14	1977	c.1827C>T	c.(1825-1827)ggC>ggT	p.G609G	HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000538248.1_Silent_p.G636G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000543639.1_5'UTR	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	609										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTTTTATGGCCAAGGCCAT	0.413000													5	204					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52830849	52830849	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:52830849G>A	ENST00000449956.2	+	4	382	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	126	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAAGACGGCCGGCTTGGTCAA	0.517000													3	94					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52979842	52979842	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:52979842C>A	ENST00000293745.2	-	9	1545	c.1460G>T	c.(1459-1461)aGc>aTc	p.S487I	KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I|KRT72_ENST00000398066.3_Missense_Mutation_p.S299I	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	487	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACTGCCACAGCTGCCTTTGGT	0.567000													35	1134					7.41877e-09	9.30088e-09	1	1	0
PTENP1	11191	broad.mit.edu	37	9	33676633	33676633	+	RNA	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:33676633T>C	ENST00000532280.1	-	0	864					NR_023917.1																						AACGATCTCTTTGATGATGGC	0.463000													3	137					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28592645	28592645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:28592645G>A	ENST00000380982.4	-	20	2581	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	834	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATATCTCGAGCCAATCCA	0.453000			"""Mis, O"""		"""AML, ALL"""								4	72					0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:161192276G>T	ENST00000594609.1	+	2	211	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	APOA2_ENST00000481413.1_5'UTR|APOA2_ENST00000367990.3_Silent_p.P74P																							TCTTGATCAGGGGTGTCAGCT	0.507000													9	924					7.48243e-07	9.08963e-07	1	1	0
NDUFA1	4694	broad.mit.edu	37	X	119005930	119005930	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:119005930C>T	ENST00000371437.4	+	1	481	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	19					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	TTGTTGATTCCAGGACTGGCT	0.587000													4	119					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437859	42437859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42437859G>C	ENST00000397272.3	-	16	1791	c.1700C>G	c.(1699-1701)gCc>gGc	p.A567G	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGCTGGTGGCAAAGGCGCT	0.647000													4	39					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433000													10	75					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985617	140985617	+	Nonstop_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:140985617G>T	ENST00000298296.1	+	8	1931	c.1931G>T	c.(1930-1932)tGa>tTa	p.*644L	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGAGTGATGTCTGAAG	0.537000													5	435					1.23904e-05	1.45652e-05	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120466571	120466571	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:120466571G>T	ENST00000256646.2	-	26	4767	c.4548C>A	c.(4546-4548)aaC>aaA	p.N1516K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1516	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCACAGTGGTTGTCTTTGA	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				13	69					7.93312e-07	9.61419e-07	1	1	0
PHC1	1911	broad.mit.edu	37	12	9086983	9086983	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:9086983A>G	ENST00000433083.2	+	9	2172	c.2027A>G	c.(2026-2028)gAc>gGc	p.D676G	PHC1_ENST00000544916.1_Missense_Mutation_p.D721G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000536844.1_Missense_Mutation_p.D327G			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	721					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAAATGGGTGACTCAAAACCC	0.522000													4	118					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33437737	33437737	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33437737C>A	ENST00000283629.3	-	13	1836	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	UBP1_ENST00000283628.5_Missense_Mutation_p.R436L|UBP1_ENST00000447368.2_Missense_Mutation_p.R400L|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	436					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGGCTGCTCCCGGCAGACATA	0.537000													4	362					0.150653	0.155543	1	1	0
ADGRG6	57211	broad.mit.edu	37	6	142737090	142737090	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:142737090G>C	ENST00000230173.6	+	20	3303	c.2827G>C	c.(2827-2829)Gca>Cca	p.A943P	GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P|GPR126_ENST00000296932.8_Missense_Mutation_p.A915P	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCCTTCTGGCAACCTTTAC	0.428000													8	140					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35591991	35591991	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:35591991C>T	ENST00000353139.5	-	25	3626	c.3145G>A	c.(3145-3147)Gcc>Acc	p.A1049T	ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1012					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.A954T(1)|p.A1049T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTCGGAGGGCGAATACACAT	0.393000													6	707					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47336769	47336769	+	Splice_Site	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:47336769A>G	ENST00000342922.4	+	27	4449		c.e27-1		MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain						activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCATCAGAATGGACGC	0.473000													3	55					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44101009	44101009	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:44101009G>A	ENST00000272286.2	+	9	1385	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	432	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGACCATCGGCTTCCTCTAT	0.522000													6	770					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151935680	151935680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:151935680G>A	ENST00000535741.1	-	2	588	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LRBA_ENST00000357115.3_Missense_Mutation_p.L39F|LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	39						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATGGGGAGCCCTGGTTTC	0.512000													55	13					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53783446	53783446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:53783446C>T	ENST00000288139.3	+	28	3644	c.3526C>T	c.(3526-3528)Cag>Tag	p.Q1176*	CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1156					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGTTACATTTCAGGAACAAGG	0.428000													5	97					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27287824	27287824	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:27287824T>C	ENST00000317338.12	-	6	1836	c.1409_splice	c.e6+1	p.R470_splice	SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	470	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCCCTCACCTGTCATCATCC	0.607000													4	534					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964520	123964520	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:123964520A>G	ENST00000314393.4	+	3	1605	c.770A>G	c.(769-771)aAg>aGg	p.K257R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	257	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTGCCCAAGGTCCCTGTC	0.507000													5	447					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863593	4863593	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:4863593G>A	ENST00000573366.1	-	4	968	c.110C>T	c.(109-111)gCt>gTt	p.A37V	SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V|SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V			O75391	SPAG7_HUMAN	sperm associated antigen 7	88						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGTCAGGCCAGCCACTTCCAC	0.557000													3	42					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462299	5462299	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5462299C>T	ENST00000380211.1	-	1	445	c.446G>A	c.(445-447)gGc>gAc	p.G149D	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAAGGATGCCCAGACCCAT	0.473000													5	397					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223213	80223213	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:80223213C>A	ENST00000392959.1	-	4	1047	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	LCA5_ENST00000467898.2_Missense_Mutation_p.A146S|LCA5_ENST00000369846.4_Missense_Mutation_p.A146S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	146					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTATTCAGGGCTTTCTCCTGT	0.363000													3	59					1	1	1	1	0
TAF4	6874	broad.mit.edu	37	20	60574157	60574157	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:60574157T>G	ENST00000252996.3	-	12	2794	c.2795A>C	c.(2794-2796)gAc>gCc	p.D932A		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	932					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCATATCTGTCGTCATCCTA	0.488000													5	428					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45152365	45152365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:45152365C>A	ENST00000327574.4	+	2	457	c.107C>A	c.(106-108)tCg>tAg	p.S36*	PDXK_ENST00000398081.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	0					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TCAGCTTGCTCGTGCTCTCAT	0.493000													3	29					0.115264	0.119247	1	1	0
HSPA2	3306	broad.mit.edu	37	14	65008729	65008729	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:65008729T>C	ENST00000247207.6	+	1	1544	c.1162T>C	c.(1162-1164)Tca>Cca	p.S388P	HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	388					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGCGACAAATCAGAGAATGT	0.602000													3	67					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57743445	57743445	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:57743445G>T	ENST00000302804.7	+	3	335	c.149G>T	c.(148-150)gGc>gTc	p.G50V	AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	50	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		CGTCCCCTGGGCAAGGGGAAA	0.542000													4	77					0.00024832	0.000280255	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249212482	249212482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:249212482C>T	ENST00000355360.4	+	3	1216	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y|PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	567										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCCTCTGCCACTCACAGAC	0.552000													7	156					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46835125	46835125	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:46835125C>T	ENST00000262738.3	-	3	4366	c.4367G>A	c.(4366-4368)cGg>cAg	p.R1456Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1456	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCAGGCCCCGGAAGGTGAC	0.642000													4	323					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:89334236C>T	ENST00000380265.5	+	12	1559	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443000													16	2057					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473048	42473048	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:42473048A>G	ENST00000545399.1	-	20	2900	c.2747T>C	c.(2746-2748)gTg>gCg	p.V916A	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	903					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAACTCCACCACCTTCCTCTG	0.612000													5	255					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:39885673G>A	ENST00000260356.5	+	19	3236	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTATGCTGGATTTGTCTTT	0.517000													5	577					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7811408	7811408	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:7811408C>T	ENST00000315599.7	-	3	138	c.116G>A	c.(115-117)gGc>gAc	p.G39D	CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601951.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	39					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGACCATGGCCAAGACACCC	0.642000													5	352					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79566670	79566670	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:79566670G>A	ENST00000372391.2	-	26	4818	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1265L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1605	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCTGCCAGCCGGTCGTAC	0.597000													3	61					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768273	88768273	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:88768273C>T	ENST00000444431.1	+	0	2873				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGTCCATGGGCTGGTCCAACC	0.567000													14	1001					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85779652	85779652	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:85779652G>T	ENST00000233838.3	-	10	1406	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	442					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	202	1332					7.89626e-74	1.15827e-73	1	1	0
MYRF	745	broad.mit.edu	37	11	61538984	61538984	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:61538984C>A	ENST00000278836.5	+	6	849	c.753C>A	c.(751-753)caC>caA	p.H251Q	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TCCCTACACACCCCTCCAAGA	0.617000													3	9					1	1	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809651	18809651	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:18809651T>C	ENST00000400664.1	+	1	2228	c.2176T>C	c.(2176-2178)Tac>Cac	p.Y726H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	726						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCATCTACTGCGTGGG	0.662000													3	26					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1281_splice	c.e11-1	p.E428_splice	ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483000													4	174					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527000													12	1251					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:26219542G>T	ENST00000335473.7	+	13	2842	c.2592G>T	c.(2590-2592)gaG>gaT	p.E864D	MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	864	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTATGAGGAGCTGAACA	0.572000													5	423					1.024e-07	1.26509e-07	1	1	0
TTF1	7270	broad.mit.edu	37	9	135266069	135266069	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135266069G>A	ENST00000334270.2	-	7	2176	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	713	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGTTTTTCCCGAACAATTGAT	0.418000													10	962					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939306	14939306	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:14939306T>A	ENST00000313519.5	+	2	690	c.459T>A	c.(457-459)aaT>aaA	p.N153K	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	213					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGGCTTATAATAAAAACCAAC	0.393000													5	89					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204294	9204294	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9204294C>T	ENST00000429566.3	+	1	440	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGTTCGTGGCCATCTGCCAC	0.542000													4	239					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48575226	48575226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48575226C>A	ENST00000537810.1	-	26	3485	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*			O94915	FRYL_HUMAN	FRY-like	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCGAGTGCTTCTTTAATTATG	0.343000													14	74					1.64113e-05	1.92032e-05	1	1	0
AP4B1	10717	broad.mit.edu	37	1	114437917	114437917	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:114437917C>A	ENST00000369569.1	-	10	2270	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	664					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGATGTTCACTACTTGAAGA	0.488000													10	213					1.76689e-08	2.19353e-08	1	1	0
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000433674.2_Silent_p.L506L|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403000													5	104					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252410	145252410	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:145252410T>C	ENST00000377976.1	-	1	121	c.122A>G	c.(121-123)gAa>gGa	p.E41G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	41										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TGACTCTAATTCCTGCCCATC	0.488000													15	1222					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154221341	154221341	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:154221341C>A	ENST00000360256.4	-	4	671	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	157	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCAGGACCTGCCAGACATATG	0.448000													4	290					1	1	1	1	0
GNL1	2794	broad.mit.edu	37	6	30520260	30520260	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:30520260C>T	ENST00000376621.3	-	8	2053	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	361					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCGATGGTCACCACCCCAT	0.572000													22	189					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587936	128587936	+	Missense_Mutation	SNP	G	G	A	rs144448991		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:128587936G>A	ENST00000402030.2	+	7	965	c.893G>A	c.(892-894)cGc>cAc	p.R298H	IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	298					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGCAAGTGCGCTTCCCCAGC	0.632000													8	34					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342090	65342090	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:65342090C>T	ENST00000402939.2	-	23	4351	c.4352G>A	c.(4351-4353)cGa>cAa	p.R1451Q	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1480					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGTAAGGTCGCCTTCTCTG	0.517000													4	196					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443000													46	129					6.21074e-16	8.38532e-16	1	1	0
HYAL1	3373	broad.mit.edu	37	3	50340148	50340148	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:50340148G>A	ENST00000266031.4	-	1	855	c.240C>T	c.(238-240)ggC>ggT	p.G80G	HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G80G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	80						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	AGGGGTAGGTGCCCAGCTGGG	0.597000													11	417					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43515433	43515433	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:43515433T>C	ENST00000265351.7	-	19	2282	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	691					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGCATCAACATCTGACAGCAC	0.458000													5	244					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601642	64601642	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:64601642C>A	ENST00000498707.1	-	20	3360	c.3018G>T	c.(3016-3018)tgG>tgT	p.W1006C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1006	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACTTCAGTCCAGGCAGAAT	0.498000													5	418					6.5536e-12	8.64192e-12	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173322742	173322742	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:173322742C>A	ENST00000457714.1	+	3	783	c.354C>A	c.(352-354)ccC>ccA	p.P118P	NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	118					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P118P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGTGTGTCCCCAGAATATCA	0.478000													5	391					0.014758	0.0156823	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66467884	66467884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:66467884C>A	ENST00000273854.3	-	3	985	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	129					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATTTGAGTTCTATGAAGATT	0.423000										TSP Lung(17;0.13)			35	135					1.07637e-12	1.43422e-12	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:78492255C>T	ENST00000377211.4	-	2	876	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	152					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGTCAATGACGATGTGCAGC	0.507000													11	364					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857217	111857217	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:111857217C>T	ENST00000369740.1	+	5	416	c.314_splice	c.e5+1	p.P105_splice	CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	105					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGGGACTGCCCCGTAAGTCTT	0.453000													11	32					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420787	55420787	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55420787T>C	ENST00000594765.1	+	4	564	c.539T>C	c.(538-540)gTg>gCg	p.V180A	NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A|NCR1_ENST00000357397.5_Missense_Mutation_p.V73A			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGGGCCCTGTGACCACAGCC	0.577000													4	139					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424630	9424630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:9424630A>T	ENST00000378501.2	+	27	2746	c.2731A>T	c.(2731-2733)Att>Ttt	p.I911F	PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F|PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	911					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTAGGTATTGAACTTAT	0.313000													4	131					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262356	15262356	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:15262356C>A	ENST00000256953.2	-	5	624	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RERG_ENST00000536465.1_Silent_p.L96L|RERG_ENST00000546331.1_Silent_p.L77L|RERG_ENST00000538313.1_Silent_p.L96L	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	96					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTTAAGTGGCAGCACTTCCT	0.488000													70	706					9.2564e-22	1.27683e-21	1	1	0
ADCY8	114	broad.mit.edu	37	8	131896926	131896926	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:131896926C>T	ENST00000286355.5	-	8	4085	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	665					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTAATTTCCTCAGGCCCAGAC	0.438000										HNSCC(32;0.087)			4	258					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677361	219677361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:219677361G>A	ENST00000258415.4	+	4	1160	c.733G>A	c.(733-735)Ggg>Agg	p.G245R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAGATCCATCGGGTTAATGTT	0.542000													5	641					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11137010	11137010	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:11137010G>A	ENST00000358026.2	+	23	3487	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCACTGGCGGCATTGTCCAA	0.592000			"""F, N, Mis"""		NSCLC								3	107					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196343	8196343	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:8196343G>T	ENST00000162391.3	+	4	1600	c.455G>T	c.(454-456)aGa>aTa	p.R152I	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	152					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCGAAAGAGAAGACACCCT	0.483000													5	638					0.0293803	0.0307708	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25304766	25304766	+	RNA	SNP	G	G	A	rs140779859	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:25304766G>A	ENST00000549804.2	+	0	159				SNHG14_ENST00000384733.1_RNA																							GTCGTTCTCAGCGGAACTGAG	0.517000													4	350					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61417421	61417421	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:61417421A>G	ENST00000398571.2	-	78	9934	c.9858T>C	c.(9856-9858)agT>agC	p.S3286S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3286					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAAAGAAGCACTTGCTTTGG	0.408000													8	410					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213196	9213196	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9213196C>A	ENST00000305456.2	-	1	786	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGGTGAGACCCACAGGTGGAA	0.473000													7	186					0.00448238	0.00489599	1	1	0
FLVCR2	55640	broad.mit.edu	37	14	76088498	76088498	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:76088498A>G	ENST00000238667.4	+	2	1102	c.746A>G	c.(745-747)cAc>cGc	p.H249R	FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	249					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGCCTACCACATCAGCATC	0.478000													8	783					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128623348	128623348	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:128623348G>T	ENST00000308982.7	+	11	1230	c.1149_splice	c.e11+1	p.K383_splice	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	383						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCATGGTGAAGGTAACCCTGG	0.567000													3	101					0.014758	0.0156823	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620404	7620404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:7620404C>T	ENST00000486284.1	+	8	2085	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	604					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGATCATTGCCACCATCTTT	0.522000													4	122					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158135	38158135	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38158135G>A	ENST00000308059.6	+	28	4069	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1350					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTCAGCCATGAAACTGACTC	0.627000													4	165					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199307	71199307	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:71199307G>A	ENST00000554752.2	-	11	2778	c.2779C>T	c.(2779-2781)Cta>Tta	p.L927L	MAP3K9_ENST00000381250.4_Silent_p.L904L|MAP3K9_ENST00000553414.1_Silent_p.L660L|MAP3K9_ENST00000554146.1_Silent_p.L655L|MAP3K9_ENST00000555993.2_Silent_p.L941L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	927	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGCTGGCTAGGAGAGTCTCT	0.597000													3	68					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42730412	42730412	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:42730412G>A	ENST00000287777.4	+	4	1573	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K		NM_152393.2	NP_689606.2			kelch-like family member 40																		TTGAGTGGAAGGAGCTGGCAC	0.607000													4	163					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24887048	24887048	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:24887048T>C	ENST00000347898.3	+	6	1095	c.473T>C	c.(472-474)aTc>aCc	p.I158T	SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000424767.2_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	158					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTCACCAAGATCTCGGTAAGG	0.527000													4	375					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79553848	79553848	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:79553848C>T	ENST00000372391.2	-	31	5579	c.5574G>A	c.(5572-5574)agG>agA	p.R1858R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1518R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1858	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCACCTTGTCCCTCAGGTAGA	0.592000													7	838					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641944	172641944	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:172641944G>A	ENST00000422440.2	-	18	1914	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	626					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGAAGGTCTGCAATGCGTGA	0.498000													4	81					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39910035	39910035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:39910035C>A	ENST00000303538.8	-	11	1752	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	405					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGTTCTTTCCCTTACAAAG	0.363000													4	192					0.000602214	0.000670738	1	1	0
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592000													3	20					0.00024832	0.000280255	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22203096	22203096	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:22203096T>G	ENST00000374695.3	-	22	2814	c.2735A>C	c.(2734-2736)cAc>cCc	p.H912P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	912	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTACTCAGGTGGAAAGAGCC	0.592000													4	17					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004813	248004813	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:248004813G>A	ENST00000355784.2	-	1	441	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGCGGAGTGGGCTGCAGAT	0.602000													4	73					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30071491	30071491	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:30071491G>T	ENST00000376734.3	-	9	1225	c.1100C>A	c.(1099-1101)gCt>gAt	p.A367D	TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	367						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GACTTTCCCAGCAGACGAGGC	0.532000													101	300					2.07075e-64	3.0201e-64	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62299309	62299309	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:62299309G>A	ENST00000378024.4	-	5	2854	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	860					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)				GGACATCAATGTCCATTTTGG	0.453000													5	502					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75633083	75633083	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:75633083G>T	ENST00000451157.1	-	7	859	c.690C>A	c.(688-690)caC>caA	p.H230Q	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	230	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TACCAATGAAGTGACACATGT	0.547000													7	108					5.4927e-09	6.92026e-09	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27276327	27276327	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:27276327C>T	ENST00000360131.4	+	3	432	c.273C>T	c.(271-273)aaC>aaT	p.N91N	AGBL5_ENST00000323064.8_Silent_p.N91N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	91					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGATCAACATTATGAACA	0.542000													3	71					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110205834	110205834	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:110205834G>A	ENST00000538780.1	+	3	816	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	34																	GGTGGCCAGCGCCATGCATTC	0.652000													37	3004					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256443	63256443	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:63256443C>T	ENST00000323865.3	-	1	1337	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	368					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGCAGAAGGGCAGAACAAGAG	0.572000													7	567					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145072	58145072	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:58145072A>G	ENST00000257904.6	-	3	637	c.272T>C	c.(271-273)cTg>cCg	p.L91P	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTCAAACACCAGGGTTACCTT	0.532000			Mis			melanoma			Hereditary Melanoma				5	460					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536215	186536215	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:186536215G>T	ENST00000431808.1	-	17	3301	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	913	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTATGAGATCGGGAAGATGCC	0.443000													5	120					3.59834e-05	4.14379e-05	1	1	0
TMEM33	55161	broad.mit.edu	37	4	41956089	41956089	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:41956089C>A	ENST00000504986.1	+	7	982	c.617C>A	c.(616-618)aCc>aAc	p.T206N	TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N|TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	206						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TCTTGCAGGACCTTATTTAAT	0.343000													4	85					8.12818e-05	9.29718e-05	1	1	0
TRAV13-2	28670	broad.mit.edu	37	14	22386370	22386370	+	RNA	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:22386370G>T	ENST00000390439.2	+	0	8																											ACCCGATGATGGAAGTAGCTC	0.403000													5	76					7.03913e-09	8.8467e-09	1	1	0
FER	2241	broad.mit.edu	37	5	108168555	108168555	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:108168555C>A	ENST00000281092.4	+	4	676	c.292C>A	c.(292-294)Cac>Aac	p.H98N	FER_ENST00000536402.1_Missense_Mutation_p.H98N|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	98	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACCTTTACACAGGCTCAC	0.393000													9	483					1.76689e-08	2.19353e-08	1	1	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism				87	226					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69026898	69026898	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:69026898C>T	ENST00000383701.3	-	18	2197	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GGTGCTCCCCCAGGGTTGGAT	0.448000													3	35					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129201223	129201223	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:129201223G>T	ENST00000308167.5	-	9	1844	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	489					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGCCAGAAGTTGGGGGAGG	0.657000			T	ERG	AML								3	16					0.004672	0.00507046	1	1	0
BCL9	607	broad.mit.edu	37	1	147095648	147095648	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:147095648G>A	ENST00000234739.3	+	10	3909	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCTAGGAATGGGCATTAATAC	0.383000			T	"""IGH@, IGL@"""	B-ALL								4	398					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270906	84270906	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:84270906C>T	ENST00000568181.1	-	2	306	c.186G>A	c.(184-186)ctG>ctA	p.L62L	KCNG4_ENST00000308251.4_Silent_p.L62L			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	62						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCACGTTGATCAGGATCTCCT	0.642000													40	206					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755343	149755343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:149755343C>T	ENST00000451292.1	+	12	1872	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000513346.1_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000394269.3_Silent_p.P588P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	588					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGGGCCCCCTCAGAAGG	0.612000													9	71					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347133	56347133	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56347133G>T	ENST00000331886.5	+	23	2517		c.e23-1		DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCCTCCTATAGCACCACAAAA	0.458000													6	838					0.000602214	0.000670738	1	1	0
LMO1	4004	broad.mit.edu	37	11	8248620	8248620	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:8248620A>G	ENST00000335790.3	-	3	762	c.267T>C	c.(265-267)gcT>gcC	p.A89A	LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	89	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TGCTGCAAGCAGCACAGTTCC	0.617000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							10	1178					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:31612763C>T	ENST00000404765.2	-	10	1618	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587000													5	322					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471128	4471128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:4471128G>A	ENST00000325719.4	+	1	604	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGCTGTGGTGAGGCTGGC	0.522000													5	400					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496167	102496167	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:102496167G>A	ENST00000360184.4	+	50	9818	c.9654G>A	c.(9652-9654)ctG>ctA	p.L3218L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3218	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAGAAGAACTGCGTCGTGACT	0.483000													10	989					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				4	98					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71929729	71929729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:71929729C>T	ENST00000449475.2	+	2	450	c.152C>T	c.(151-153)gCc>gTc	p.A51V	FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	34					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGTATGGATGCCAAGCACCAC	0.542000													4	203					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427961	134427961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:134427961A>T	ENST00000370766.3	-	3	2815	c.106T>A	c.(106-108)Tac>Aac	p.Y36N	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	36					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTGTGCTGTATTTCTTACTC	0.507000													8	783					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080103	23080103	+	Missense_Mutation	SNP	G	G	A	rs148627286		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:23080103G>A	ENST00000219689.7	-	16	3322	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	USP31_ENST00000567975.1_Missense_Mutation_p.S401L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1108	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAAGGAGATGACACGGAGTC	0.582000													7	363					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552000													12	384					9.31168e-06	1.10739e-05	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91735015	91735015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:91735015G>A	ENST00000359028.2	+	47	11591	c.11366G>A	c.(11365-11367)tGg>tAg	p.W3789*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3789					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTCGACGGTGGCATCGAGTC	0.333000			T	BRAF	papillary thyroid								64	86					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73150893	73150893	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:73150893T>C	ENST00000377110.2	-	25	5343	c.5100A>G	c.(5098-5100)caA>caG	p.Q1700Q	TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000396280.5_Silent_p.Q1549Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000396285.1_Silent_p.Q1559Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1725						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCAAAGCTTTGGAAAGCCG	0.507000													3	128					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665832	19665832	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:19665832G>A	ENST00000328041.6	+	12	1348	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	384						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGAGAATGGGACAGGGCCC	0.522000													4	161					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830490	830490	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:830490G>A	ENST00000293892.3	-	3	510	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane		p.R171S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGATGCGTGCGGGCACGCATG	0.547000													19	5273					0	0	1	0	0
PTRHD1	391356	broad.mit.edu	37	2	25013321	25013321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:25013321C>A	ENST00000328379.4	-	2	386	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	128					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TGGCCCACTTCTTCCTTGGGG	0.493000													14	147					1.5739e-10	2.04888e-10	1	1	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472930	67472930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:67472930G>A	ENST00000290949.3	-	6	910	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	254					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGAGCCAGCTGCGCCAGGCCC	0.587000													6	309					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26856137	26856137	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:26856137C>G	ENST00000226247.2	+	4	754	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	242					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAGCTACCCCATACCCTAC	0.582000													7	290					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372453	133372453	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:133372453A>G	ENST00000204726.3	-	11	3012	c.2454T>C	c.(2452-2454)gcT>gcC	p.A818A	GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000545875.1_Silent_p.A818A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	818					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGGATTTGATAGCTAATTCTT	0.433000													4	263					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214646	3214646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:3214646G>A	ENST00000380059.3	-	6	756	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	192					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GACAGCAGGTGGACTGAGGAA	0.652000													4	62					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179974674	179974674	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:179974674G>A	ENST00000428443.3	-	18	2359	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	681					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGCCTTTTGAGATTAACTA	0.418000													4	127					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217801	134217801	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:134217801G>A	ENST00000359579.4	+	4	717	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	133					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TAATGCCATCGGTGGAAAAGC	0.463000													8	1049					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417337	113417337	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:113417337A>G	ENST00000272542.3	+	8	2144	c.1605A>G	c.(1603-1605)gtA>gtG	p.V535V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCAATGACGTAAGGTCAGTTG	0.458000													3	172					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122774917	122774917	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:122774917G>T	ENST00000368454.1	-	7	916	c.587C>A	c.(586-588)gCa>gAa	p.A196E	SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E			Q9NRX5	SERC1_HUMAN	serine incorporator 1	196					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAGCTTACCTGCATACCAACA	0.368000													33	231					3.93418e-24	5.47131e-24	1	1	0
ASIC1	41	broad.mit.edu	37	12	50472314	50472314	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:50472314G>A	ENST00000228468.4	+	6	1333	c.948G>A	c.(946-948)acG>acA	p.T316T	ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	316					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGTGAGACGCGCTACCTGG	0.612000													13	920					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295457	101295457	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:101295457G>A	ENST00000538618.1	+	4	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTGAAAAGCGTTTGCAAATC	0.507000										HNSCC(74;0.22)			20	184					0	0	1	0	0
ZNF740	283337	broad.mit.edu	37	12	53580224	53580224	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53580224G>T	ENST00000416904.3	+	6	868	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TCATCCAGAAGTACCACCTGG	0.502000													19	52					1.96292e-10	2.54231e-10	1	1	0
CUX2	23316	broad.mit.edu	37	12	111776090	111776090	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:111776090G>A	ENST00000261726.6	+	20	3351	c.3196_splice	c.e20-1	p.G1066_splice		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1066						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTATCCCCAGGGCAGCGGCTG	0.622000													13	28					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691473	7691473	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:7691473A>G	ENST00000572933.1	+	44	8271	c.6811A>G	c.(6811-6813)Aac>Gac	p.N2271D	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2271	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAAGGACAACTGCAAGGA	0.557000													10	327					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130712	37130712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:37130712T>A	ENST00000588268.1	-	6	762	c.535A>T	c.(535-537)Act>Tct	p.T179S	ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAGTAAAGTATGTTGGCTA	0.333000													5	252					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638938	56638938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56638938C>G	ENST00000267116.7	-	22	2562	c.2441G>C	c.(2440-2442)aGc>aCc	p.S814T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	814							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGAAAACGGGCTGTGTTCAAG	0.522000													12	920					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43707823	43707823	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43707823C>T	ENST00000263801.3	-	23	5295	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K	TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1681					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCGACCTCGCTTGGCAGGGG	0.507000								Other conserved DNA damage response genes					4	435					0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16516801	16516801	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:16516801C>T	ENST00000396209.1	+	4	437	c.294C>T	c.(292-294)ccC>ccT	p.P98P	MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	98					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	p.P98P(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGAGTGGTCCCGACCCCTCTA	0.453000													4	246					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32145408	32145408	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:32145408C>A	ENST00000312561.4	+	6	5597	c.5183C>A	c.(5182-5184)aCc>aAc	p.T1728N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		ATGTTTCAAACCTACAAACAG	0.368000													20	204					0.014323	0.0153482	1	1	0
FCHSD1	89848	broad.mit.edu	37	5	141026213	141026213	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:141026213C>T	ENST00000435817.2	-	11	1051	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	334								p.S334I(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCTCGGCTGGTCAAGCG	0.602000													5	16					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579133	41579133	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:41579133C>A	ENST00000402904.2	-	8	905	c.537G>T	c.(535-537)aaG>aaT	p.K179N	SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	179					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGAGGGTTCTTCCTGTCCA	0.512000													6	62					0.0215528	0.022713	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77652058	77652058	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:77652058G>A	ENST00000296043.6	+	4	1510	c.557G>A	c.(556-558)gGc>gAc	p.G186D	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	186					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTATGATCGGCCCTCCTTGG	0.498000													6	441					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:347159C>A	ENST00000262320.3	-	7	2223	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612000													4	112					1	1	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092540	30092540	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:30092540G>A	ENST00000567636.1	+	0	915					NR_003558.1																						GCCCAGCGAGGTCATGATGAT	0.488000													12	500					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510859	56510859	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:56510859G>A	ENST00000302957.3	-	1	428	c.429C>T	c.(427-429)aaC>aaT	p.N143N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAGCAATGGGTTACAAATTG	0.498000													40	217					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514252	125514252	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:125514252C>A	ENST00000241305.3	-	13	2098	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	648					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCTCTCACCAAGCCTT	0.498000													8	223					0.00621372	0.00672932	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153314103	153314103	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:153314103C>A	ENST00000368739.3	-	6	971	c.613_splice	c.e6+1	p.A205_splice	PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	209					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGTCTTACCCTTCTTCAGG	0.542000													6	287					3.59834e-05	4.14379e-05	1	1	0
RBM19	9904	broad.mit.edu	37	12	114385216	114385216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:114385216C>A	ENST00000545145.2	-	11	1408	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	444	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AATGCAAAACCCTTGGGTTTC	0.602000													19	99					4.35082e-09	5.52261e-09	1	1	0
C2orf42	54980	broad.mit.edu	37	2	70396783	70396783	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:70396783C>A	ENST00000264434.2	-	6	1429	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	350										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CATCTAACAGCTGACCACAGG	0.388000													3	39					0.115264	0.119247	1	1	0
C6	729	broad.mit.edu	37	5	41149560	41149560	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:41149560C>T	ENST00000263413.3	-	17	2670	c.2406G>A	c.(2404-2406)gtG>gtA	p.V802V	C6_ENST00000337836.5_Silent_p.V802V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	802	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTGTCAAACACACAGAGAT	0.398000													6	317					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416143	82416143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:82416143G>T	ENST00000370728.1	+	9	2114	c.1469G>T	c.(1468-1470)cGa>cTa	p.R490L	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L			O95490	LPHN2_HUMAN	latrophilin 2	490					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTTGAACGACCATGCCCT	0.383000													21	136					6.12954e-19	8.38692e-19	1	1	0
GCOM1	145781	broad.mit.edu	37	15	57921931	57921931	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:57921931G>A	ENST00000574161.1	+	6	676	c.557G>A	c.(556-558)aGc>aAc	p.S186N	GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		186					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTGGAAAACAGCAACATTAAG	0.458000													7	697					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697676	111697676	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:111697676G>T	ENST00000435970.1	-	15	2464	c.1648C>A	c.(1648-1650)Cct>Act	p.P550T	REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	628					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATCCAGGGTATTTCATA	0.323000								DNA polymerases (catalytic subunits)					4	50					0.217242	0.220711	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088165	9088165	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9088165A>T	ENST00000397910.4	-	1	3853	c.3650T>A	c.(3649-3651)cTg>cAg	p.L1217Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1217	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGGAACCAGGGTGCTTTT	0.502000													7	874					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283506	33283506	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:33283506A>G	ENST00000431845.2	-	2	1339	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	ZBTB22_ENST00000418724.1_Silent_p.L396L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGAGTCATCAAGACCTGCCA	0.612000													8	424					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36054744	36054744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:36054744G>T	ENST00000409652.3	+	3	409	c.133G>T	c.(133-135)Gaa>Taa	p.E45*		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	45					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTTTGAGAGAATTTCCCAG	0.443000													9	49					1.12685e-05	1.33699e-05	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9237454	9237454	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9237454G>A	ENST00000305444.2	-	1	172	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAAGTACATGGGGGTGTGGAG	0.557000													4	356					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054074	49054074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49054074G>A	ENST00000440857.1	-	8	1235	c.533C>T	c.(532-534)gCa>gTa	p.A178V	DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V|DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	345					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGCTTCAGTGCTGAGGCCTT	0.587000													7	100					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33000357	33000357	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:33000357G>T	ENST00000374864.4	+	5	462	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	83	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTTCGTGTGTGGAGTCACC	0.303000													8	59					9.05144e-12	1.19049e-11	1	1	0
L1TD1	54596	broad.mit.edu	37	1	62675572	62675572	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:62675572A>T	ENST00000498273.1	+	4	1421	c.1126A>T	c.(1126-1128)Act>Tct	p.T376S		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	376	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACTTAGAGACTCAAGAGGA	0.463000													3	63					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422317	70422317	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:70422317C>T	ENST00000393640.4	-	3	2773	c.666G>A	c.(664-666)ctG>ctA	p.L222L	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	222					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				ACAGAAGGTCCAGGACCTTGA	0.582000													4	300					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726270	11726270	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11726270G>A	ENST00000262442.3	+	48	9233	c.9165G>A	c.(9163-9165)ttG>ttA	p.L3055L	DNAH9_ENST00000454412.2_Silent_p.L3055L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3055	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGCTTGTTGCACAGGCACA	0.512000													4	107					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884089	19884089	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:19884089C>G	ENST00000300571.2	-	2	270	c.79G>C	c.(79-81)Gcc>Ccc	p.A27P	GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	27										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCAGAGGCCACCGAGGTG	0.577000													3	78					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45749891	45749891	+	Silent	SNP	G	G	A	rs71313004		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:45749891G>A	ENST00000357450.4	-	21	3239	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	SMC1B_ENST00000404354.3_Silent_p.I1080I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1080					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTTCTTGTAGATTTGATCAA	0.398000													14	146					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58301427	58301427	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:58301427G>T	ENST00000219299.4	+	7	907	c.828G>T	c.(826-828)aaG>aaT	p.K276N	CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	276						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCTGGACAAGGAGATCTTGC	0.398000													9	136					3.86212e-05	4.42752e-05	1	1	0
TLR4	7099	broad.mit.edu	37	9	120470993	120470993	+	Silent	SNP	G	G	A	rs78293159		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:120470993G>A	ENST00000355622.6	+	2	347	c.246G>A	c.(244-246)gtG>gtA	p.V82V	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	82					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AACTGCAGGTGCTGGATTTAT	0.458000													55	361					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36353326	36353326	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:36353326G>A	ENST00000373738.1	-	2	972	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ETV7_ENST00000340181.4_Silent_p.L43L|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000339796.5_Silent_p.L43L	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	43	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTTCCTGGCAGCTTGCAGATC	0.483000													4	382					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135153480	135153480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135153480A>T	ENST00000372169.2	-	21	7001	c.6819T>A	c.(6817-6819)taT>taA	p.Y2273*	SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273*			Q7Z333	SETX_HUMAN	senataxin	2273					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTTTCTGTTATAAACATAAT	0.368000													5	145					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069652	36069652	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:36069652A>G	ENST00000303965.4	-	33	5481	c.4992T>C	c.(4990-4992)aaT>aaC	p.N1664N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1664					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGCTTTGCTATTCCTGTCCT	0.448000													8	372					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACTCTGGCCAGTTGTTGCT	0.423000													3	74					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567000													6	72					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32777354	32777354	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:32777354A>T	ENST00000427716.2	+	12	1935		c.e12-1		FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000546442.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTTATTTTAGTTCTGCGCA	0.333000													4	82					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336357	141336357	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:141336357C>T	ENST00000231484.3	-	1	2270	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	354					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATGTGACGTGGATGCTT	0.507000													5	350					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887919	47887919	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:47887919G>T	ENST00000446256.2	+	12	1812	c.1240G>T	c.(1240-1242)Gtg>Ttg	p.V414L	DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	453						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCACCCGGTGGTGGTCATCTC	0.672000													4	128					0.184627	0.188705	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153036318	153036318	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:153036318C>A	ENST00000538966.1	+	12	2456	c.2185C>A	c.(2185-2187)Cgg>Agg	p.R729R	PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	706					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCGTGCGGAACCTTCA	0.642000													4	7					0.184627	0.188705	1	1	0
C14orf93	60686	broad.mit.edu	37	14	23468012	23468012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23468012C>T	ENST00000299088.6	-	2	650	c.221G>A	c.(220-222)gGt>gAt	p.G74D	C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	74						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTCAGCCAAACCCACTGCCTT	0.557000													157	57					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16173246	16173246	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:16173246G>T	ENST00000399408.2	+	16	2201	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	676	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTTGGTGGCCGTGGTGGGCCA	0.602000													17	572					9.95505e-16	1.33697e-15	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:1902443T>A	ENST00000503128.1	+	2	269	c.62T>A	c.(61-63)aTg>aAg	p.M21K	WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	21					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507000			T	IGH@	MM								6	176					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050925	25050925	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:25050925G>T	ENST00000260600.5	-	13	3129	c.2278C>A	c.(2278-2280)Ctg>Atg	p.L760M	ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	760					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATGAGGGACAGCACGGCCACA	0.592000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	77					5.3912e-06	6.45676e-06	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59519787	59519787	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:59519787T>C	ENST00000288235.4	-	7	912	c.513A>G	c.(511-513)ggA>ggG	p.G171G	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	171	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAAGTATTTTCCCTGCAAGA	0.408000													8	766					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32262283	32262283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:32262283G>A	ENST00000360482.2	-	10	2308	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTCTGCACGGCTCCTTCTGT	0.562000													29	46					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149907008	149907008	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:149907008G>A	ENST00000439741.2	-	5	589	c.339C>T	c.(337-339)tcC>tcT	p.S113S	MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	113							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGACTCGGGACAAGCCGC	0.547000													4	117					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43240464	43240464	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:43240464G>T	ENST00000372525.5	+	4	382	c.339G>T	c.(337-339)gtG>gtT	p.V113V	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	113										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTAATATAGTGAAAAAACCTG	0.378000													4	148					2.56e-06	3.07321e-06	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152708494	152708494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152708494G>T	ENST00000367255.5	-	54	8801	c.8200C>A	c.(8200-8202)Caa>Aaa	p.Q2734K	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2734					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTCCATTGGCTAATCACA	0.368000										HNSCC(10;0.0054)			5	219					0.00116845	0.00129573	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160061536	160061536	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:160061536A>G	ENST00000327245.5	-	12	2052	c.1206T>C	c.(1204-1206)ctT>ctC	p.L402L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	402					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATACAGGTCAAGGTCATTGC	0.478000													5	502					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567703	57567703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57567703G>A	ENST00000243077.3	+	22	3953	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1163	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCCCCCTGACAAGCTGTG	0.632000													4	89					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167653164	167653164	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:167653164G>T	ENST00000367854.3	+	2	365	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	12										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAATGCCAATGTGGACAACTC	0.587000													130	820					1.6318e-82	2.40054e-82	1	1	0
NUP85	79902	broad.mit.edu	37	17	73221470	73221470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:73221470C>A	ENST00000447371.2	+	8	686	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000245544.4_Missense_Mutation_p.L256M			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	256					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGAGCTGGAGCTGAAGTGGCA	0.562000													6	59					0.0809354	0.0844182	1	1	0
BRF2	55290	broad.mit.edu	37	8	37704631	37704631	+	Missense_Mutation	SNP	C	C	T	rs142395337		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:37704631C>T	ENST00000220659.6	-	3	397	c.277G>A	c.(277-279)Gcg>Acg	p.A93T	BRF2_ENST00000520601.1_Missense_Mutation_p.A93T|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	93					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAGGCAACCGCGGTATCCTCA	0.547000													7	787					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23933821	23933821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:23933821T>C	ENST00000379211.3	+	4	770	c.221T>C	c.(220-222)tTc>tCc	p.F74S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCAGGAATTCTATGTAACA	0.378000													4	15					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33020118	33020118	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:33020118G>A	ENST00000242209.4	+	5	1015	c.846G>A	c.(844-846)agG>agA	p.R282R	FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Silent_p.R144R|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000538336.1_Silent_p.R335R	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	282	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			ACTTTCTCAGGTATCATTACA	0.413000													4	321					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748606	43748606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43748606G>A	ENST00000263801.3	-	12	2437	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	729					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTTTGAGGGGAATCA	0.408000								Other conserved DNA damage response genes					6	250					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41204585	41204585	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:41204585C>A	ENST00000372652.1	+	2	338	c.70C>A	c.(70-72)Cct>Act	p.P24T	NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	24					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTCGTTCTGGCCTCGGGTCAT	0.408000													3	31					0.115264	0.119247	1	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622120	106622120	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:106622120G>A	ENST00000390604.2	-	0	198																											TCCAGAGGCTGCACAGGAGAG	0.587000													5	355					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135522302	135522302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135522302C>A	ENST00000372159.3	-	12	1577	c.1426G>T	c.(1426-1428)Gca>Tca	p.A476S	DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S|DDX31_ENST00000438527.3_Missense_Mutation_p.A347S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	476						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTGGTATTGCAAAGCTGTCC	0.532000													5	94					0.000602214	0.000670738	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129275241	129275241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129275241C>T	ENST00000324093.4	-	36	5870	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1898					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCTCCGGGCCGTGGGGTTG	0.612000													5	64					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917734	2917734	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2917734C>G	ENST00000306908.5	+	4	1263	c.1115C>G	c.(1114-1116)gCc>gGc	p.A372G	ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAAAGCCTTCACTTGG	0.443000													48	139					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209922	183209922	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:183209922G>T	ENST00000341319.3	-	7	1694	c.1659C>A	c.(1657-1659)atC>atA	p.I553I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	553										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGCAGGGCGCGATACCGCAGC	0.662000													12	110					2.12542e-12	2.82464e-12	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102496024	102496024	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:102496024G>T	ENST00000360184.4	+	49	9781	c.9617G>T	c.(9616-9618)aGg>aTg	p.R3206M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3206	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGGGCTCAGGAAGATCAAA	0.532000													95	315					1.44766e-59	2.10532e-59	1	1	0
BRDT	676	broad.mit.edu	37	1	92446676	92446676	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:92446676T>A	ENST00000370389.2	+	10	2396	c.1472T>A	c.(1471-1473)cTa>cAa	p.L491Q	BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCATCAACACTAAGAGAATTA	0.358000													4	70					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76276447	76276447	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:76276447G>A	ENST00000263187.3	+	4	758	c.654G>A	c.(652-654)gtG>gtA	p.V218V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	218					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTGTGCTGTGGGGAATTCCA	0.284000								Mismatch excision repair (MMR)					3	52					0	0	1	0	0
FAM228A	653140	broad.mit.edu	37	2	24406229	24406229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:24406229C>T	ENST00000295150.3	+	4	324	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		AACTGGTCTTCAGTGTGAGAC	0.438000													6	81					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169212948	169212948	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:169212948C>A	ENST00000393743.3	-	8	1283	c.992G>T	c.(991-993)aGa>aTa	p.R331I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	331							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTGATGACTCTAGCACAAGC	0.373000													11	123					0.000219431	0.000249309	1	1	0
CARS2	79587	broad.mit.edu	37	13	111340073	111340073	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:111340073G>A	ENST00000257347.4	-	5	629	c.566C>T	c.(565-567)gCa>gTa	p.A189V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	189				RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTACCTTTTGCCGTTGAATA	0.408000													11	1947					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767222	41767222	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:41767222G>A	ENST00000379483.3	-	1	1480	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	391							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCATGGTCTGGGGACACACA	0.507000													29	52					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307284	14307284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:14307284C>A	ENST00000380959.3	-	2	739	c.266G>T	c.(265-267)cGa>cTa	p.R89L	NFIB_ENST00000380953.1_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397579.2_Missense_Mutation_p.R89L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	89					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)		AAAGTCCTCTCGATACTCCTG	0.507000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								33	620					2.32173e-10	2.9994e-10	1	1	0
LPL	4023	broad.mit.edu	37	8	19809320	19809320	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:19809320C>T	ENST00000311322.8	+	3	760	c.290C>T	c.(289-291)gCc>gTc	p.A97V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	97					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AAACTTGTGGCCGCCCTGTAC	0.493000													7	603					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45165995	45165995	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:45165995G>A	ENST00000291565.4	+	5	550	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PDXK_ENST00000467908.1_Missense_Mutation_p.E83K|PDXK_ENST00000468090.1_Missense_Mutation_p.E95K	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	123					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTGGGACGGCGAAGGCTCGAT	0.502000													12	285					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945900	58945900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:58945900G>T	ENST00000254166.3	-	3	1311	c.911C>A	c.(910-912)tCt>tAt	p.S304Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCTCAGCTTAGATGAGTGACT	0.388000													6	57					0.0293803	0.0307708	1	1	0
RAF1	5894	broad.mit.edu	37	3	12632448	12632448	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:12632448G>C	ENST00000251849.4	-	12	1658	c.1219C>G	c.(1219-1221)Ctt>Gtt	p.L407V	RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	407	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCCATGAAAAGCAGAATGTTC	0.547000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				8	759					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264606	75264606	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:75264606C>A	ENST00000325680.7	+	5	2730	c.2606C>A	c.(2605-2607)aCc>aAc	p.T869N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	674	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTAGCAGACACCAGTAGTAAC	0.443000													8	527					0.00307968	0.00337835	1	1	0
PCLO	27445	broad.mit.edu	37	7	82581468	82581468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:82581468G>A	ENST00000423517.2	-	5	9138	c.8801C>T	c.(8800-8802)gCa>gTa	p.A2934V	PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2865					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCTCCCTGCGGTTAAATC	0.428000													6	495					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428000									Familial Paragangliomas				5	87					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21071661	21071661	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:21071661C>A	ENST00000261383.3	-	26	3736	c.3737G>T	c.(3736-3738)tGg>tTg	p.W1246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1246	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTGGAGCCACTTTTCCAC	0.527000													24	339					1.42536e-11	1.86505e-11	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553263	140553263	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140553263T>C	ENST00000231137.3	+	1	1021	c.847T>C	c.(847-849)Tac>Cac	p.Y283H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		283	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTCTTACGCCACTGA	0.438000													4	413					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102953051	102953051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:102953051C>A	ENST00000379263.3	-	17	2081	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AGCACTTGTTCTTGAGCAGCT	0.328000													5	182					0.0293803	0.0307708	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74624255	74624255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:74624255G>A	ENST00000253159.8	+	17	3053	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	952					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGGCACAAGGTTCCCAGTTT	0.488000													12	93					0	0	1	0	0
WFDC11	259239	broad.mit.edu	37	20	44279177	44279177	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:44279177C>T	ENST00000356562.2	-	3	284	c.63G>A	c.(61-63)ctG>ctA	p.L21L	WFDC11_ENST00000324384.3_Silent_p.L21L			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	21						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCAGCACAGACAGTAGCACCG	0.468000													6	520					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638432	176638432	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:176638432G>C	ENST00000439151.2	+	5	3077	c.3032G>C	c.(3031-3033)aGt>aCt	p.S1011T	NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1011					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGTAAAAGTCGTTCAGAC	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	736					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532750	23532750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23532750C>A	ENST00000262710.1	-	13	3133	c.2806G>T	c.(2806-2808)Gaa>Taa	p.E936*	ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	936					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCTCTTCTTCCCTCTGCCCA	0.517000													97	810					9.84052e-24	1.3648e-23	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134077468	134077468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:134077468C>G	ENST00000514516.1	-	9	2547	c.2369G>C	c.(2368-2370)gGc>gCc	p.G790A	AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	732										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCTGGGGGGCCCTCAGTCTG	0.637000											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	54					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905312	149905312	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:149905312G>A	ENST00000439741.2	-	10	1222	c.972C>T	c.(970-972)gcC>gcT	p.A324A	MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	324	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGGCAGAGGGCCCTCAGCC	0.557000													6	282					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:33053608C>A	ENST00000418931.2	+	4	815	c.699C>A	c.(697-699)ttC>ttA	p.F233L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	233					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582000													43	236					2.01807e-28	2.83756e-28	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999908	72999908	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:72999908G>A	ENST00000322038.5	+	2	2995	c.2411G>A	c.(2410-2412)gGc>gAc	p.G804D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	849						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AACCTCACAGGCCGCCTGACG	0.597000													3	61					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15566947	15566947	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:15566947C>A	ENST00000343625.6	-	11	1769	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	563	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGAAGACCTCCTCGCAGCTGT	0.577000													5	112					0.014758	0.0156823	1	1	0
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:55049839A>G	ENST00000260102.4	+	3	349	c.275A>G	c.(274-276)cAg>cGg	p.Q92R		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398000													5	692					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457058	159457058	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:159457058C>T	ENST00000367066.3	-	10	2328	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTTTCCATCGCTCAGGCAG	0.627000													30	37					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259751	79259751	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:79259751C>A	ENST00000428286.1	-	12	8758	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2878					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCGGTTGTCCTCCCGTTCC	0.507000													11	129					3.86212e-05	4.42752e-05	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3664715	3664715	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:3664715C>A	ENST00000263087.4	-	5	513	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	139					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAGAAGTTGGCCTGAGCCTGG	0.567000													4	62					0.000602214	0.000670738	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13702551	13702551	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:13702551C>A	ENST00000357447.2	-	20	2031	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	555						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACCTGAGAGTCTTCTGCACAA	0.597000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0.00909568	0.0097673	1	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:12880890G>A	ENST00000155926.4	+	3	2421	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													3	91					0	0	1	0	0
C9orf153	389766	broad.mit.edu	37	9	88842305	88842305	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:88842305A>T	ENST00000376001.3	-	4	329	c.249T>A	c.(247-249)aaT>aaA	p.N83K	C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	83										breast(1)|lung(1)	2						tgtTCATTTTATTGACACTGT	0.323000													4	81					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860131	23860131	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:23860131C>A	ENST00000304710.4	-	1	256	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						AGTACTCATCCTTATTAATGA	0.567000													196	1491					3.06722e-38	4.4227e-38	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79293949	79293949	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:79293949C>A	ENST00000264895.6	+	24	3387	c.2947C>A	c.(2947-2949)Cag>Aag	p.Q983K	FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	983					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATGTTCTCCAGGATGGGGC	0.527000													130	1125					1.90545e-35	2.73976e-35	1	1	0
RIPPLY1	92129	broad.mit.edu	37	X	106146393	106146393	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:106146393G>A	ENST00000276173.4	-	1	154	c.125C>T	c.(124-126)tCc>tTc	p.S42F	RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	42					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						TTGTCCAGAGGAGAGAAGGCA	0.537000													6	55					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904736	148904736	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:148904736T>A	ENST00000261798.5	-	3	663		c.e3-2		CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCATACCACCTAACGAAACAA	0.353000													3	34					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463388	33463388	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:33463388G>T	ENST00000455041.2	-	23	2949	c.2890C>A	c.(2890-2892)Cct>Act	p.P964T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1016					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATATGGCGAGGAGACAGGCGA	0.652000													7	82					7.48243e-07	9.08963e-07	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:248201694T>C	ENST00000366479.2	+	1	221	c.125T>C	c.(124-126)cTa>cCa	p.L42P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393000													6	606					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145387	48145387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:48145387C>T	ENST00000418331.2	+	5	1191	c.839C>T	c.(838-840)aCa>aTa	p.T280I	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	280	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAATAAGACAAAGGGAGAC	0.458000													14	229					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540772	40540772	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40540772C>T	ENST00000434248.1	-	5	2059	c.1994G>A	c.(1993-1995)gGt>gAt	p.G665D	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTTTACACCAGCATGAAT	0.388000													6	378					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50405564	50405564	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:50405564C>A	ENST00000217086.4	-	3	2689	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	860					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTGGGCTGCTAACAAAGGG	0.577000													11	304					3.32936e-07	4.07366e-07	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140357192	140357192	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:140357192A>T	ENST00000406427.1	-	30	3773	c.3437T>A	c.(3436-3438)cTg>cAg	p.L1146Q	PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1121					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCCAGACAGCGCATCCCC	0.637000													2	4					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089905	20089905	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089905G>A	ENST00000396085.1	+	22	5305	c.4944G>A	c.(4942-4944)caG>caA	p.Q1648Q	NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000311043.8_Silent_p.Q712Q|NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1704	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGCCTCCCAGGAGAAAGTTT	0.517000													29	87					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178426848	178426848	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:178426848G>A	ENST00000448150.3	+	14	3206	c.2388G>A	c.(2386-2388)caG>caA	p.Q796Q	RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	666					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCCAAGCCAGGACAACACAG	0.408000													6	91					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93691888	93691888	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:93691888A>T	ENST00000343253.7	+	17	2674		c.e17-1		CCDC18_ENST00000421014.2_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTCCTGCTTAGGTTAGGCAA	0.299000													4	74					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43604483	43604483	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:43604483G>T	ENST00000355710.3	+	6	1300	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RET_ENST00000340058.5_Silent_p.L356L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	356					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGCAGGGCTGGTTCTCAACC	0.602000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	73					4.93089e-13	6.58746e-13	1	1	0
PKD2L1	9033	broad.mit.edu	37	10	102058505	102058505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102058505T>C	ENST00000318222.3	-	4	927	c.545A>G	c.(544-546)cAt>cGt	p.H182R	PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	182					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGGGAGCCATGGCCCAGGCT	0.547000													9	164					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674724	78674724	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:78674724C>T	ENST00000286627.5	-	23	3764	c.2812G>A	c.(2812-2814)Ggg>Agg	p.G938R	KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	996					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATGTTGACCCCAGTTGTGATG	0.488000													15	936					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16162137	16162137	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:16162137T>C	ENST00000399408.2	+	13	1977	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTCTCCCCATGGTCATCAGC	0.577000													7	499					0	0	1	0	0
RAB2B	84932	broad.mit.edu	37	14	21931904	21931904	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:21931904C>T	ENST00000397762.1	-	6	485	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	129					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TCTCTCTTCACATCCCTGCGG	0.398000													4	112					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983950	176983950	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:176983950C>T	ENST00000367654.2	-	8	1537	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R			O14525	ASTN1_HUMAN	astrotactin 1	508					cell migration|neuron cell-cell adhesion	integral to membrane		p.R500R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCCATTCGTTCCGAATGCAAA	0.488000													19	2169					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	129					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779044	52779044	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:52779044G>T	ENST00000257951.3	-	1	392	c.326C>A	c.(325-327)gCt>gAt	p.A109D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	109	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCCAGCTCCAAAGCC	0.587000													3	63					0.004672	0.00507046	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44660861	44660861	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:44660861C>A	ENST00000426739.2	+	6	950	c.692C>A	c.(691-693)cCa>cAa	p.P231Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.P231Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTAGAGAAACCATTCAAATGT	0.413000													5	486					0.184627	0.188705	1	1	0
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587000													5	49					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920900	57920900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57920900G>T	ENST00000355673.3	+	7	2328	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	658	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGCTTGGGAGACCTGTCCCC	0.637000													7	15					6.5536e-12	8.64192e-12	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40433988	40433988	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40433988G>A	ENST00000221347.6	-	2	288	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	94	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCAGCCTTGGCACTGATGTT	0.547000													8	347					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177202251	177202251	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:177202251C>T	ENST00000392529.2	+	11	1026	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MTX2_ENST00000443241.1_Silent_p.G161G|MTX2_ENST00000249442.6_Silent_p.G217G			O75431	MTX2_HUMAN	metaxin 2	217					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTATTTGGCCATCTATACA	0.378000													5	189					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82611312	82611312	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:82611312C>T	ENST00000313010.3	-	1	327	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	45					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TAGTTCTTGGCTACAGCCGGG	0.647000													3	145					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65790316	65790316	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:65790316C>T	ENST00000341861.5	-	5	2229	c.649G>A	c.(649-651)Gat>Aat	p.D217N	DPP8_ENST00000559233.1_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000300141.6_Missense_Mutation_p.D201N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	217					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTTTGGATCCATCCGTATG	0.388000													3	96					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379606	154379606	+	Missense_Mutation	SNP	G	G	T	rs147606989	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:154379606G>T	ENST00000406326.1	+	6	1277	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGGCTGGAGGATTGCAGGAG	0.562000													32	1050					1.32181e-22	1.82826e-22	1	1	0
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428000													10	324					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131001	44131001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:44131001C>T	ENST00000222374.2	-	4	482	c.434G>A	c.(433-435)tGc>tAc	p.C145Y		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	145	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CGGAACGAGGCAGCTGAGCTC	0.672000													3	41					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716000													3	22					0	0	0.001168	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803629	142803629	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:142803629G>A	ENST00000423385.1	-	0	1336																											actaatatctgttgagtgttg	0.308000													7	143					0	0	0.013537	0	0
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135158714T>C	ENST00000372169.2	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000224140.5_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L			Q7Z333	SETX_HUMAN	senataxin	2161					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478000													59	200					0	0	0.014410	0	0
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:89334236C>T	ENST00000380265.5	+	12	1559	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443000													15	677					0	0	0.004990	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCAGGAAAGTTTGTGGGGCTT	0.478000													6	158					0	0	0.003080	0	0
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	BLK_ENST00000529894.1_Silent_p.G182G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	253	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607000													34	87					1.22384e-17	2.02566e-17	0.013726	1	0
DHX37	57647	broad.mit.edu	37	12	125465134	125465134	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:125465134T>C	ENST00000308736.2	-	4	738	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	DHX37_ENST00000544745.1_Start_Codon_SNP_p.M1V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	214							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.M214V(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGAACAGTCATCCCAGCCGGC	0.692000													6	43					0	0	0.012213	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205183	23205183	+	RNA	SNP	G	G	C	rs143369458	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:23205183G>C	ENST00000400153.2	-	0	671					NR_003521.1																						TTGGCTTTTCGGTGTCCTTGA	0.403000													3	28					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													8	124					0	0	0.003163	0	0
TUSC5	286753	broad.mit.edu	37	17	1183365	1183365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:1183365C>T	ENST00000333813.3	+	1	409	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	24					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGACCTGCCGGAGATGGA	0.627000													4	117					0	0	0.009096	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144704	25144704	+	RNA	SNP	T	T	C	rs71218558	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:25144704T>C	ENST00000453498.1	+	0	245																											TACATAGATGTGTTTAACACA	0.388000													3	7					0	0	0.001984	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	75					0	0	0.003080	0	0
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403000													9	65					0	0	0.008291	0	0
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567000													7	208					0	0	0.003080	0	0
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443000													28	45					2.65835e-16	4.32544e-16	0.007291	1	0
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532000													31	66					0	0	0.008361	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478000													6	156					0	0	0.003080	0	0
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592000													22	81					0	0	0.007291	0	0
SOGA2	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:8825455C>A	ENST00000359865.3	+	15	4089	c.3947C>A	c.(3946-3948)aCg>aAg	p.T1316K	SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1626																	GGGTCCCGGACGATGGGGACC	0.612000													15	72					6.31663e-08	9.47494e-08	0.003163	1	0
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	864					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488000													7	276					0	0	0.001984	0	0
LOC645752	645752	broad.mit.edu	37	15	78211427	78211427	+	RNA	SNP	G	G	T	rs71145882	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:78211427G>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGCTCTCGGAGCATCTCCTCC	0.587000													59	171					1.25742e-37	2.11776e-37	0.014410	1	0
AMER3	205147	broad.mit.edu	37	2	131520926	131520926	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:131520926C>T	ENST00000423981.1	+	2	1391	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	AMER3_ENST00000321420.4_Silent_p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGCTCTTCCACGACCCCAGCG	0.637000													25	46					0	0	0.006320	0	0
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:133098622G>A	ENST00000515826.1	+	3	190	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552000													20	824					0	0	0.007413	0	0
DHX40	79665	broad.mit.edu	37	17	57663568	57663568	+	Silent	SNP	A	A	G	rs2697395	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:57663568A>G	ENST00000451169.2	+	14	1613	c.1254A>G	c.(1252-1254)caA>caG	p.Q418Q	DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	466	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q466Q(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCTTAAACAACTTTACCAGT	0.323000													4	25					0	0	0.009096	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													9	89					0	0	0.004482	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	112	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677000													9	30					8.00594e-06	1.1645e-05	0.007413	1	0
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592000													8	63					5.18039e-06	7.65104e-06	0.003080	1	0
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512000										HNSCC(10;0.0054)			6	343					0	0	0.001984	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950897	14950897	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:14950897G>A	ENST00000453695.2	-	14	1673	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	530					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGATGTGAGTTGATTCTCC	0.453000								Non-homologous end-joining					5	114					0	0	0.000602	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127000	42127000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42127000C>T	ENST00000382448.4	+	2	136	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCACTTCTACCGGGACTGGGT	0.602000													12	189					0	0	0.013537	0	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism				5	78					0	0	0.001984	0	0
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55106130G>A	ENST00000453777.1	+	4	241	c.70_splice	c.e4-1	p.G24_splice	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587000													32	142					0	0	0.013726	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803621	142803621	+	RNA	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:142803621T>C	ENST00000423385.1	-	0	1344																											TGGAAGAaactaatatctgtt	0.303000													9	164					0	0	0.004007	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	95					0	0	0.004482	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358000													12	124					0	0	0.010729	0	0
EIF3L	51386	broad.mit.edu	37	22	38247400	38247400	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:38247400T>C	ENST00000412331.2	+	3	778	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	66						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCTCAGATTTGATTGACCA	0.438000													4	135					0	0	0.009096	0	0
EHHADH	1962	broad.mit.edu	37	3	184953206	184953206	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:184953206T>C	ENST00000231887.3	-	3	298	c.223A>G	c.(223-225)Aca>Gca	p.T75A	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	75	Enoyl-CoA hydratase / isomerase.		T -> I (in dbSNP:rs1062553).			peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGTCCCAGTGTAAGGCCAAAT	0.493000													5	119					0	0	0.001168	0	0
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000396123.1_Silent_p.N728N|GREB1_ENST00000234142.5_Silent_p.N1730N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657000													5	33					0	0	0.000602	0	0
MON2	23041	broad.mit.edu	37	12	62918364	62918364	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:62918364C>A	ENST00000393630.3	+	9	1445	c.1054C>A	c.(1054-1056)Cga>Aga	p.R352R	MON2_ENST00000393629.2_Silent_p.R352R|MON2_ENST00000552738.1_Silent_p.R352R|MON2_ENST00000552115.1_Silent_p.R352R|MON2_ENST00000280379.6_Silent_p.R352R|MON2_ENST00000393632.2_Silent_p.R352R|MON2_ENST00000546600.1_Silent_p.R352R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	352					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGTGGCTACGAGCTGTTGC	0.343000													5	83					6.31663e-08	9.47494e-08	0.003163	1	0
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552000													15	95					0.000308642	0.00043573	0.003163	1	0
FAT4	79633	broad.mit.edu	37	4	126238838	126238838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:126238838C>A	ENST00000394329.3	+	1	1285	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S424R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTGGCCAGCGCCTTGGACC	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	92					1.76689e-08	2.73584e-08	0.006214	1	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	RNA	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408000													4	135					0	0	0.009096	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	120					0	0	0.001168	0	0
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373000													5	344					0	0	0.000602	0	0
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433000													37	110					0	0	0.004878	0	0
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567000													69	226					0	0	0.014410	0	0
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627000													3	45					0	0	0.001984	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142980	49142980	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:49142980G>T	ENST00000055335.6	+	4	1844	c.1828G>T	c.(1828-1830)Gta>Tta	p.V610L	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V281L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V264L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	610						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCGTTCTGTGGTAGCCACGAT	0.617000													6	33					1.12685e-05	1.61459e-05	0.004482	1	0
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000416589.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587000													32	118					0	0	0.013726	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709666	22709666	+	RNA	SNP	T	T	G	rs4369632		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:22709666T>G	ENST00000314246.8	-	0	1118																											CCTCTCCAGCTTCTCTACCCG	0.557000													13	586					0	0	0.002450	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101933	9101934	+	Frame_Shift_Ins	INS	-	-	C	rs148745114	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:9101933_9101934insC	ENST00000377424.4	-	5	660_661	c.481_482insG	c.(481-483)tctfs	p.S161fs	SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	161					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCGAGAGCCCCCCGCAGG	0.530													8	297	---	---	---	---					
FBLIM1	54751	broad.mit.edu	37	1	16091532	16091533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:16091532_16091533insC	ENST00000375766.3	+	3	694_695	c.54_55insC	c.(52-57)gcccccfs	p.AP18fs	FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	18	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCACCCTGGCACCCCCGCGCCG	0.653													8	854	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													13	321	---	---	---	---					
PADI3	51702	broad.mit.edu	37	1	17603074	17603075	+	Frame_Shift_Ins	INS	-	-	C	rs148039282	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:17603074_17603075insC	ENST00000375460.3	+	12	1408_1409	c.1368_1369insC	c.(1366-1371)caccccfs	p.HP456fs		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	456					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAGGTGCAGCCCCCCGTGGA	0.564													7	204	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													11	257	---	---	---	---					
YTHDF2	51441	broad.mit.edu	37	1	29069012	29069013	+	Frame_Shift_Ins	INS	-	-	G	rs11553689		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29069012_29069013insG	ENST00000373812.3	+	4	592_593	c.230_231insG	c.(229-231)aggfs	p.R77fs	YTHDF2_ENST00000542507.1_Frame_Shift_Ins_p.R77fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Ins_p.R27fs	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGGTCTACGGGGGGTGACA	0.505													8	601	---	---	---	---					
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)gaafs	p.E553fs	PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589													7	172	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													10	122	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													14	822	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:50666498_50666499insC	ENST00000371821.1	+	7	1121_1122	c.806_807insC	c.(805-807)gccfs	p.A269fs	ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.530													8	544	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													40	489	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													12	148	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													14	152	---	---	---	---					
LOC100129138	100129138	broad.mit.edu	37	1	104615945	104615946	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:104615945_104615946insC	ENST00000418362.1	+	0	301_302					NR_033990.1																						GCTTGAGAAGGCCCCCCGACAA	0.559													2	4	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													41	573	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccaagfs	p.K276fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574													8	348	---	---	---	---					
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)gctfs	p.A763fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.					integral to membrane		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCTGAACAGGCCCCCCGACAC	0.614													7	94	---	---	---	---					
NBPF9	400818	broad.mit.edu	37	1	144816001	144816002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:144816001_144816002insC	ENST00000440491.2	+	4	598_599	c.598_599insC	c.(598-600)cccfs	p.P200fs	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.P200fs	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GAAATCGTCTGCCCCCAGGTAA	0.421													7	1137	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:144854629delC	ENST00000369359.4	-	45	7287	c.7249delG	c.(7249-7251)aafs	p.E2417fs	PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2281					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488			T	PDGFRB	MPD								8	320	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													12	244	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													10	109	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325777	152325781	+	Frame_Shift_Del	DEL	TCCAG	TCCAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152325777_152325781delTCCAG	ENST00000388718.5	-	3	4553_4557	c.4481_4485delCTGGA	c.(4480-4485)afs	p.TG1494fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1494							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCTTCTTCCAGTTGTACTGGA	0.522													22	552	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152329462	152329463	+	Frame_Shift_Ins	INS	-	-	AGCTG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152329462_152329463insAGCTG	ENST00000388718.5	-	3	871_872	c.799_800insCAGCT	c.(799-801)ttcfs	p.F267fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	267	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACCTGAACAGCTAGACCCA	0.455													38	123	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													14	626	---	---	---	---					
INTS3	65123	broad.mit.edu	37	1	153745515	153745516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153745515_153745516insC	ENST00000456435.1	+	28	3775_3776	c.2589_2590insC	c.(2587-2592)caccccfs	p.HP863fs	INTS3_ENST00000318967.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000512605.1_Frame_Shift_Ins_p.HP863fs			Q68E01	INT3_HUMAN	integrator complex subunit 3	1004					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGCCACACAGCCCCCCAATGC	0.604													8	390	---	---	---	---					
CASQ1	844	broad.mit.edu	37	1	160168790	160168790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160168790delA	ENST00000368079.3	+	9	1188	c.913delA	c.(913-915)ctfs	p.T305fs	CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGATAACACTGAAAACCC	0.502													7	416	---	---	---	---					
B4GALT3	8703	broad.mit.edu	37	1	161142084	161142085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:161142084_161142085insG	ENST00000319769.5	-	7	1062_1063	c.840_841insC	c.(838-843)cccatcfs	p.I281fs	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.I281fs|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	281					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CCTACAGATGTGGGGGGCCGAG	0.505													7	340	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													8	301	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		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						TCTTTGCTCCTGGGGGGAGACA	0.574													8	283	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													12	2946	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183514220	183514221	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:183514220_183514221delCA	ENST00000367537.3	+	17	2287_2288	c.2092_2093delCA	c.(2092-2094)cfs	p.H698fs	SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	715	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAACAGTCCCACATTCCTTAC	0.545													45	633	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													14	487	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205497018	205497019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:205497018_205497019insG	ENST00000360066.2	+	9	1127_1128	c.826_827insG	c.(826-828)gggfs	p.G276fs	CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	274	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CATCAACGAGAGGGGGGAGCTG	0.639													27	1254	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205497243	205497244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:205497243_205497244insC	ENST00000360066.2	+	10	1222_1223	c.921_922insC	c.(919-924)agccccfs	p.SP307fs	CDK18_ENST00000429964.2_Frame_Shift_Ins_p.SP307fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.SP337fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	305	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGTGGTACAGGCCCCCCGATGT	0.609													8	549	---	---	---	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)			10	165	---	---	---	---					
NBAS	51594	broad.mit.edu	37	2	15615948	15615949	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:15615948_15615949insTC	ENST00000281513.5	-	14	1228_1229	c.1203_1204insGA	c.(1201-1206)gtctttfs	p.F402fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	402										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						CGAGCTAAAGTCACTGCACTGT	0.391													13	30	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)cgtfs	p.R778fs	ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	778					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)					TTGGAGGCACTGGGGGGGTTTG	0.554													10	445	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													11	654	---	---	---	---					
ABCG5	64240	broad.mit.edu	37	2	44055180	44055181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:44055180_44055181insC	ENST00000405322.1	-	4	1228_1229	c.332_333insG	c.(331-333)gatfs	p.D111fs	ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	192	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGTGGAAATGCCCCCCAAGCT	0.589													10	325	---	---	---	---					
FSHR	2492	broad.mit.edu	37	2	49191001	49191002	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:49191001_49191002delGA	ENST00000406846.2	-	10	1077_1078	c.958_959delTC	c.(958-960)cfs	p.S321fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	321					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTGTAGCTGGACTCATTGTCT	0.441									Gonadal Dysgenesis, 46 XX				54	248	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74685769	74685770	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:74685769_74685770insG	ENST00000393972.3	+	1	243_244	c.40_41insG	c.(40-42)gggfs	p.G14fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CGAGGAGGCCTGGGGGGCACTT	0.634													8	207	---	---	---	---					
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)cccfs	p.P608fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629													8	360	---	---	---	---					
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:88425822_88425823insC	ENST00000393750.3	-	2	143_144	c.112_113insG	c.(112-114)gtcfs	p.V38fs	FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.530													7	975	---	---	---	---					
FAHD2A	51011	broad.mit.edu	37	2	96078465	96078466	+	Frame_Shift_Ins	INS	-	-	C	rs148515677		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:96078465_96078466insC	ENST00000233379.4	+	7	988_989	c.835_836insC	c.(835-837)cccfs	p.P279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.P279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCTAACTGGGACCCCCCCAGGT	0.559													7	77	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98797558	98797559	+	Frame_Shift_Ins	INS	-	-	T	rs143566322	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:98797558_98797559insT	ENST00000477737.1	+	9	1398_1399	c.1194_1195insT	c.(1192-1197)ggtgaafs	p.E399fs	VWA3B_ENST00000435344.1_Frame_Shift_Ins_p.E399fs|VWA3B_ENST00000451075.2_Frame_Shift_Ins_p.E249fs	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	399										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAAATATGGCTTGAAGGCCCA	0.480													9	56	---	---	---	---					
TMEM37	140738	broad.mit.edu	37	2	120194795	120194795	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:120194795delA	ENST00000306406.4	+	2	387	c.352delA	c.(352-354)aafs	p.K118fs	TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	118						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTGCGAGGACAAACACTCACA	0.617													8	174	---	---	---	---					
CLASP1	23332	broad.mit.edu	37	2	122125357	122125358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:122125357_122125358insC	ENST00000263710.4	-	35	4081_4082	c.3692_3693insG	c.(3691-3693)gagfs	p.E1231fs	CLASP1_ENST00000397587.3_Frame_Shift_Ins_p.E1171fs|CLASP1_ENST00000409078.3_Frame_Shift_Ins_p.E1164fs|CLASP1_ENST00000541377.1_Frame_Shift_Ins_p.E1170fs|CLASP1_ENST00000545861.1_Frame_Shift_Ins_p.E938fs|CLASP1_ENST00000455322.2_Frame_Shift_Ins_p.E1187fs|CLASP1_ENST00000541859.1_Frame_Shift_Ins_p.E948fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1231					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTACTTCACTACCCCCCCGGCC	0.634													8	141	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													25	1337	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136467651	136467652	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:136467651_136467652insG	ENST00000264160.4	+	22	2851_2852	c.2481_2482insG	c.(2479-2484)ggggggfs	p.GG827fs	R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.GG828fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.GG772fs|R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.GG698fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.GG699fs	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	827							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGCCACCTGGTGGGGGGATGGT	0.450											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	635	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													15	221	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													18	152	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168102336	168102337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:168102336_168102337insG	ENST00000409195.1	+	9	4523_4524	c.4434_4435insG	c.(4432-4437)acaggafs	p.G1479fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1304					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACAGTCACTCAGGAAGATGT	0.371													11	254	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													14	187	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													188	487	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													7	102	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													10	405	---	---	---	---					
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:191301838_191301839insC	ENST00000392328.1	+	3	1407_1408	c.1083_1084insC	c.(1081-1086)aaccccfs	p.NP361fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	361					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGGGTGTAAGCCCCCCGAGTA	0.579													11	226	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:197171262_197171263insG	ENST00000260983.2	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cctgaafs	p.E922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.530													13	938	---	---	---	---					
ICOS	29851	broad.mit.edu	37	2	204820471	204820472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:204820471_204820472insG	ENST00000316386.6	+	2	238_239	c.171_172insG	c.(169-174)aaggggfs	p.KG57fs	ICOS_ENST00000435193.1_Frame_Shift_Ins_p.KG57fs	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	57	Ig-like V-type.				immune response|T cell costimulation	extracellular region		p.Q60fs*8(1)		breast(1)|large_intestine(1)|lung(4)	6						AGTTGCTGAAAGGGGGGCAAAT	0.386													10	614	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													12	154	---	---	---	---					
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)gatfs	p.D250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													8	251	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													11	123	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													7	105	---	---	---	---					
BHLHE40	8553	broad.mit.edu	37	3	5025346	5025347	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:5025346_5025347insC	ENST00000256495.3	+	5	1811_1812	c.1208_1209insC	c.(1207-1209)accfs	p.T403fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	403						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTGAAGCCAATCCCCCCTTTAA	0.485													7	917	---	---	---	---					
RP11-380O24.1	0	broad.mit.edu	37	3	9390686	9390687	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:9390686_9390687insC	ENST00000491930.2	-	0	190				RP11-380O24.1_ENST00000518331.1_RNA																							CATGGCAACAGCCCCCCGGGCA	0.520													10	865	---	---	---	---					
IL17RE	132014	broad.mit.edu	37	3	9953257	9953258	+	Frame_Shift_Ins	INS	-	-	C	rs9870003	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:9953257_9953258insC	ENST00000454190.2	+	12	1288_1289	c.1203_1204insC	c.(1201-1206)gtccccfs	p.VP401fs	IL17RE_ENST00000295980.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000383814.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000421412.1_Frame_Shift_Ins_p.VP434fs	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	401						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ACACTTTGGTGCCCCCCGTGTA	0.564													7	184	---	---	---	---					
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)gggfs	p.G558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505													12	533	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11072861	11072862	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:11072861_11072862insG	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCATCTTGCAGGGGGGTATTT	0.500													13	1093	---	---	---	---					
ANKRD28	23243	broad.mit.edu	37	3	15756165	15756166	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:15756165_15756166insG	ENST00000399451.2	-	9	1274		c.e9-2		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361													8	84	---	---	---	---					
GALNT15	117248	broad.mit.edu	37	3	16254154	16254155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:16254154_16254155insC	ENST00000339732.5	+	6	1779_1780	c.1276_1277insC	c.(1276-1278)cccfs	p.P426fs	GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.S426F(1)									GGATTCCCATTCCCCCCTCGAC	0.550													7	830	---	---	---	---					
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:24164402_24164403insG	ENST00000396671.2	-	11	1706_1707	c.1358_1359insC	c.(1357-1359)cttfs	p.L453fs	THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs|THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAGAACAAAGGGGGGAAGAG	0.480													11	813	---	---	---	---					
DCLK3	85443	broad.mit.edu	37	3	36759523	36759524	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:36759523_36759524insG	ENST00000416516.2	-	4	2220_2221	c.1730_1731insC	c.(1729-1731)ctafs	p.L577fs		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	577	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCCCAGTAAGGGGGGAGGAA	0.540													8	347	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													8	182	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38739682	38739683	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38739682_38739683insG	ENST00000449082.2	-	27	5027_5028	c.5028_5029insC	c.(5026-5031)ccactgfs	p.L1677fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1677					sensory perception	voltage-gated sodium channel complex		p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGTCACAGTAGGGGGGCCCTG	0.589													7	477	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:48732640_48732641insC	ENST00000431721.2	-	3	486_487	c.249_250insG	c.(247-252)ggactcfs	p.L84fs	IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619													9	536	---	---	---	---					
QARS	5859	broad.mit.edu	37	3	49137078	49137078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:49137078delC	ENST00000306125.6	-	16	1728	c.1391delG	c.(1390-1392)ccfs	p.R464fs	QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTAGGAAGAGCGTCTGGGGTG	0.577													8	98	---	---	---	---					
IFRD2	7866	broad.mit.edu	37	3	50325937	50325938	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:50325937_50325938insG	ENST00000436390.1	-	14	1650		c.e14-2		IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000429673.2_Splice_Site			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2								binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATTGTTCTGGGGGGCAGAG	0.609													8	402	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													9	297	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													8	406	---	---	---	---					
MINA	84864	broad.mit.edu	37	3	97668725	97668726	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:97668725_97668726insG	ENST00000333396.6	-	7	1604_1605	c.1022_1023insC	c.(1021-1023)ctafs	p.L341fs	MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs|MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	341					ribosome biogenesis	cytoplasm|nucleolus		p.P340R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGCAGAGTAAGGGGGGAGTCT	0.510													7	773	---	---	---	---					
SPICE1	152185	broad.mit.edu	37	3	113172442	113172444	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113172442_113172444delTCG	ENST00000295872.4	-	14	2270_2272	c.2011_2013delCGA	c.(2011-2013)del	p.R671del		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	671					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AATCAGCAATTCGTGTCATTATG	0.443													19	136	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													11	1009	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113376413	113376417	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113376413_113376417delTTGAG	ENST00000316407.4	-	7	4522_4526	c.4112_4116delCTCAA	c.(4111-4116)afs	p.TQ1371fs	KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1371					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACCATCATTTGAGTTTGGTCAGA	0.473													27	239	---	---	---	---					
HGD	3081	broad.mit.edu	37	3	120357337	120357338	+	Frame_Shift_Ins	INS	-	-	C	rs34214309		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:120357337_120357338insC	ENST00000283871.5	-	12	1429_1430	c.970_971insG	c.(970-972)tgcfs	p.C324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTATCAGCAACCCCCCATCGA	0.480													7	734	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121208241	121208242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121208241_121208242insT	ENST00000264233.5	-	16	3664_3665	c.3536_3537insA	c.(3535-3537)acafs	p.T1179fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1179					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)		AAACATTCTGGTTTTTTGAACC	0.386								DNA polymerases (catalytic subunits)					10	1471	---	---	---	---					
CASR	846	broad.mit.edu	37	3	121973138	121973139	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121973138_121973139insG	ENST00000498619.1	+	2	540_541	c.102_103insG	c.(100-105)ctggggfs	p.LG34fs	CASR_ENST00000296154.5_Frame_Shift_Ins_p.LG34fs|CASR_ENST00000490131.1_Frame_Shift_Ins_p.LG34fs	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	34					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACATTATCCTTGGGGGGCTCTT	0.515													7	199	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													7	1030	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cctaatfs	p.N72fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	72	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.460													9	1029	---	---	---	---					
BFSP2	8419	broad.mit.edu	37	3	133119040	133119041	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133119040_133119041insC	ENST00000302334.2	+	1	202_203	c.113_114insC	c.(112-114)accfs	p.T38fs		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	38	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCCCTGGAGAGCCCCCCAGCCT	0.653													10	265	---	---	---	---					
ACPL2	92370	broad.mit.edu	37	3	140997216	140997217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:140997216_140997217insT	ENST00000508812.1	+	2	1992_1993	c.85_86insT	c.(85-87)aatfs	p.N29fs	ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	38						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCCTAAGAATGGAATGAGTAGC	0.564													9	224	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													18	892	---	---	---	---					
TRIM59	286827	broad.mit.edu	37	3	160156831	160156832	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:160156831_160156832insT	ENST00000543469.1	-	2	354_355	c.140_141insA	c.(139-141)tagfs	p.*47fs	TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	47						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTAAAGGTCTCCATATATAAAA	0.361													23	329	---	---	---	---					
MECOM	2122	broad.mit.edu	37	3	169099148	169099149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:169099148_169099149insG	ENST00000494292.1	-	2	298_299	c.201_202insC	c.(199-204)cctctafs	p.L68fs	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	68							sequence-specific DNA binding transcription factor activity	p.I62V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGATGTAGATGGGGGCTTTGT	0.495													10	1723	---	---	---	---					
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)cccfs	p.P305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCCAGTGGCACCCCCCTCATC	0.584													12	1112	---	---	---	---					
MASP1	5648	broad.mit.edu	37	3	186953595	186953596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:186953595_186953596insC	ENST00000296280.6	-	11	2288_2289	c.2063_2064insG	c.(2062-2064)gccfs	p.A688fs	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Frame_Shift_Ins_p.A575fs	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	669	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATTCTTCAGGTCCCCCCCAGGA	0.569													9	51	---	---	---	---					
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)ccaaaafs	p.PK272fs	UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396													8	433	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													7	92	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648518	41648519	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:41648518_41648519insGAGT	ENST00000313860.7	+	12	1327_1328	c.1273_1274insGAGT	c.(1273-1275)gctfs	p.A425fs	LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	425					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAGAGAGAGAGAGCTGCATGAA	0.465													39	549	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													18	294	---	---	---	---					
ARHGAP24	83478	broad.mit.edu	37	4	86916051	86916052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:86916051_86916052insC	ENST00000395184.1	+	9	1710_1711	c.1244_1245insC	c.(1243-1245)accfs	p.T415fs	ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.T322fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.T320fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	415					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGTCTAGAAGCCCCCCTCTCA	0.480													7	668	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													9	521	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													10	180	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													11	526	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2643)tccfs	p.S881fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding (Potential).				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)	GTCCCAGTGTGCCCCCCTGCCT	0.470													17	1676	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128865118	128865119	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:128865118_128865119insA	ENST00000296468.3	-	5	354_355	c.227_228insT	c.(226-228)tggfs	p.W76fs	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.W31fs|MFSD8_ENST00000541133.1_Frame_Shift_Ins_p.W31fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	76					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAACCCAGCCCAAAAAACTTGT	0.347													7	1023	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:134071648_134071649insC	ENST00000264360.4	+	1	1179_1180	c.353_354insC	c.(352-354)accfs	p.T118fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604													10	231	---	---	---	---					
ZNF827	152485	broad.mit.edu	37	4	146686192	146686193	+	Frame_Shift_Ins	INS	-	-	G	rs151005596		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:146686192_146686193insG	ENST00000508784.1	-	13	3404_3405	c.3177_3178insC	c.(3175-3180)ccaacafs	p.T1060fs	ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs|ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1059P(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAGCTGTTCGGGGGTCTTCA	0.475													15	862	---	---	---	---					
ARHGAP10	79658	broad.mit.edu	37	4	148861006	148861007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:148861006_148861007insG	ENST00000336498.3	+	14	1498_1499	c.1259_1260insG	c.(1258-1260)gggfs	p.G420fs	ARHGAP10_ENST00000414545.2_Frame_Shift_Ins_p.G69fs	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	420	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TACAGAGTTGTGGGGGTGAGTT	0.356													8	621	---	---	---	---					
SH3D19	152503	broad.mit.edu	37	4	152069284	152069285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:152069284_152069285insG	ENST00000409598.4	-	11	2198_2199	c.1031_1032insC	c.(1030-1032)cgafs	p.R344fs	SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R308fs|SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R308fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	344	Interaction with SH3GL1.|Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTGGTCTCTCAGGGGGCACCTT	0.426													8	2003	---	---	---	---					
WDR17	116966	broad.mit.edu	37	4	177046335	177046336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:177046335_177046336insA	ENST00000393643.2	+	5	871_872	c.619_620insA	c.(619-621)ggafs	p.G207fs	WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	231										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCCTTGGAATGGGACCCACTA	0.361													159	257	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													9	230	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													15	211	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			15	664	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)taafs	p.*1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525													8	568	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090267	32090268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:32090267_32090268insC	ENST00000438447.1	+	20	7101_7102	c.6713_6714insC	c.(6712-6714)cccfs	p.P2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGGAGGGTCACCCCCCACACA	0.639													10	523	---	---	---	---					
MTMR12	54545	broad.mit.edu	37	5	32230062	32230063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:32230062_32230063insG	ENST00000382142.3	-	16	2235_2236	c.2065_2066insC	c.(2065-2067)ggcfs	p.G689fs	MTMR12_ENST00000264934.5_Frame_Shift_Ins_p.G579fs|MTMR12_ENST00000280285.5_Frame_Shift_Ins_p.G635fs	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	689						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCCTCAGCCTGGGGGGCCTGC	0.574													7	571	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33881300	33881301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:33881300_33881301insG	ENST00000504830.1	-	2	747_748	c.412_413insC	c.(412-414)ctgfs	p.L138fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L138I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGATGGCAGAGGGGGGCAGAG	0.540										HNSCC(64;0.19)			8	321	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													9	443	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													10	233	---	---	---	---					
C5orf34	375444	broad.mit.edu	37	5	43506338	43506339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:43506338_43506339insA	ENST00000306862.2	-	4	818_819	c.443_444insT	c.(442-444)ttgfs	p.L148fs	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	148										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAACTTTACACAAAAAATGTAC	0.366													12	488	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													17	391	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65370919	65370920	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:65370919_65370920insC	ENST00000284037.5	+	23	4213_4214	c.3824_3825insC	c.(3823-3825)cccfs	p.P1275fs	ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P473fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1282fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1230fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1275					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAATACATCACCCCCCTCAGG	0.455													8	143	---	---	---	---					
MARVELD2	153562	broad.mit.edu	37	5	68728454	68728455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:68728454_68728455insC	ENST00000325631.5	+	4	1357_1358	c.1283_1284insC	c.(1282-1284)accfs	p.T428fs	MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.T312fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	428					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGTGGACACATCCCCCCAGGCC	0.475													10	285	---	---	---	---					
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(868-873)caccccfs	p.HP290fs	OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	290					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347													7	409	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													12	262	---	---	---	---					
ENC1	8507	broad.mit.edu	37	5	73931125	73931126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:73931125_73931126insC	ENST00000302351.4	-	2	2315_2316	c.1185_1186insG	c.(1183-1188)ggacacfs	p.H396fs	ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	396					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GCGGCCGTGTGCCCCCCAACCA	0.599													11	462	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	80074560	80074561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:80074560_80074561insA	ENST00000265081.6	+	17	2420_2421	c.2340_2341insA	c.(2338-2343)ttactcfs	p.L781fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	781					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGAGCCGCTTTCACTCTCCTTT	0.401								Mismatch excision repair (MMR)					11	129	---	---	---	---					
MAN2A1	4124	broad.mit.edu	37	5	109103387	109103388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:109103387_109103388insT	ENST00000261483.4	+	6	2039_2040	c.987_988insT	c.(985-990)gattttfs	p.DF329fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	329					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAACATTGGAGTTTTTTTGGAG	0.396													11	855	---	---	---	---					
LMNB1	4001	broad.mit.edu	37	5	126140574	126140574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:126140574delA	ENST00000261366.5	+	2	827	c.466delA	c.(466-468)aafs	p.K157fs	LMNB1_ENST00000395354.1_Frame_Shift_Del_p.K157fs|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	157	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	p.S158fs*30(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ACTTGGTGACAAAAAAAGTTT	0.443													7	443	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													11	166	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130782331	130782332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:130782331_130782332insT	ENST00000509018.1	-	22	3470_3471	c.3265_3266insA	c.(3265-3267)ggcfs	p.G1089fs	FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.G1139fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.G1089fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.G1102fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.G812fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.G1097fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.G1097fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1089					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCGGCGTGCCCTTTTTTTGTGA	0.450													8	339	---	---	---	---					
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(496-501)ccccccfs	p.PP166fs	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	166							protein binding|zinc ion binding	p.S169fs*50(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCCACCCCCCAGGTA	0.589													7	300	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	1222	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)cafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373													21	509	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)ggccacfs	p.H834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584													9	193	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													19	572	---	---	---	---					
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.510													14	407	---	---	---	---					
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)agcfs	p.S462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589													7	268	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													15	665	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564													9	792	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141242814_141242815insG	ENST00000287008.3	-	3	3228_3229	c.3081_3082insC	c.(3079-3084)ccaatafs	p.I1028fs	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634													18	164	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													15	296	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141694153_141694154insG	ENST00000344120.4	-	3	775_776	c.589_590insC	c.(589-591)gacfs	p.D197fs	SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of				10	411	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													14	670	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													10	498	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505													14	629	---	---	---	---					
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)gggfs	p.G460fs	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	460	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535													14	729	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													8	197	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													10	307	---	---	---	---					
CNOT6	57472	broad.mit.edu	37	5	179994113	179994114	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:179994113_179994114insT	ENST00000393356.1	+	10	1167_1168	c.743_744insT	c.(742-744)attfs	p.I248fs	CNOT6_ENST00000261951.4_Frame_Shift_Ins_p.I248fs			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTGG	0.351													7	729	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													11	145	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													18	824	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													10	195	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													16	727	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(781-786)ctaaaafs	p.LK261fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	261					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.450													7	340	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													14	187	---	---	---	---					
NELFE	7936	broad.mit.edu	37	6	31926205	31926206	+	Frame_Shift_Ins	INS	-	-	G	rs146039608		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31926205_31926206insG	ENST00000375429.3	-	2	244_245	c.18_19insC	c.(16-21)ccgactfs	p.T7fs	NELFE_ENST00000444811.2_Frame_Shift_Ins_p.T7fs|NELFE_ENST00000375425.5_Frame_Shift_Ins_p.T14fs	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		TCGCTCAGTCCGGGGGGTATCA	0.545													9	759	---	---	---	---					
ZBTB9	221504	broad.mit.edu	37	6	33423711	33423712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33423711_33423712insC	ENST00000395064.2	+	2	1102_1103	c.834_835insC	c.(832-837)ctccccfs	p.LP278fs		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCCTGCACTGCCCCCCAAAAT	0.564													9	272	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													17	651	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													11	765	---	---	---	---					
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)cccfs	p.P437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673													2	4	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47252064	47252065	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:47252064_47252065insC	ENST00000296861.2	-	3	1245_1246	c.852_853insG	c.(850-855)ggaggafs	p.G285fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	285					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACGTCTTCCTTCCCCCTTGCTG	0.540													9	2829	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													29	640	---	---	---	---					
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)accfs	p.T250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.540													9	103	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													12	228	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146351093	146351094	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:146351093_146351094insC	ENST00000392299.2	+	2	910_911	c.440_441insC	c.(439-441)cccfs	p.P147fs	GRM1_ENST00000507907.1_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.P147fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	147					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCCAGTCCCTCCCCCCAGGCA	0.564													7	406	---	---	---	---					
EZR	7430	broad.mit.edu	37	6	159188460	159188461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:159188460_159188461insG	ENST00000367075.3	-	13	1596_1597	c.1428_1429insC	c.(1426-1431)cctgtafs	p.V477fs	EZR_ENST00000392177.4_Frame_Shift_Ins_p.V445fs|EZR_ENST00000337147.7_Frame_Shift_Ins_p.V477fs	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	477	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGCTCGTACACGGGGGGTGGTG	0.619			T	ROS1	NSCLC								7	348	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2405969	2405970	+	Frame_Shift_Ins	INS	-	-	C	rs142377401	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:2405969_2405970insC	ENST00000360876.4	+	7	1231_1232	c.1175_1176insC	c.(1174-1176)accfs	p.T392fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	392	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGACCTTTAGCCCCCTGATGG	0.545													8	1446	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12662466	12662470	+	Frame_Shift_Del	DEL	ATGAT	ATGAT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:12662466_12662470delATGAT	ENST00000297029.5	+	5	808_812	c.707_711delATGAT	c.(706-711)gfs	p.DD236fs	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	236	Actin-severing (Potential).				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGAGGTGATGATGATGACATTATAG	0.400													67	360	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148083	27148084	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:27148083_27148084insC	ENST00000396352.4	-	3	981_982	c.782_783insG	c.(781-783)gcafs	p.A261fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	261					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TTGGAGACTGGCCCCCCGATGA	0.594													9	276	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)aaafs	p.K60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGAGTCAGACCAAAAAAAACCA	0.436													13	255	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-792)tccfs	p.S264fs	EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264					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			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)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	305	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731912	73731913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:73731912_73731913insG	ENST00000223398.6	+	2	363_364	c.36_37insG	c.(34-39)cgggggfs	p.RG12fs	CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	12						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCGGCCGTGGGGGGAAGCA	0.658													9	855	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													7	369	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)ttcaggfs	p.R204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTGG	0.446													20	2182	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								18	383	---	---	---	---					
LAMTOR4	389541	broad.mit.edu	37	7	99751180	99751181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:99751180_99751181insG	ENST00000441173.1	+	3	277_278	c.242_243insG	c.(241-243)gggfs	p.G81fs	LAMTOR4_ENST00000468582.1_Intron|LAMTOR4_ENST00000341942.5_Intron					late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																		GTACTGGGAGCGGGGGGCTACT	0.639													8	288	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													8	139	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100479331_100479332insG	ENST00000388793.4	+	4	523_524	c.303_304insG	c.(301-306)gcggggfs	p.AG101fs	SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609													18	165	---	---	---	---					
MUC3A	4584	broad.mit.edu	37	7	100549838	100549839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100549838_100549839insC	ENST00000379458.4	+	2	419_420	c.419_420insC	c.(418-420)cccfs	p.P140fs	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCATCTCCCACCCCACCTCCA	0.540													7	655	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													33	326	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													13	1574	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													17	833	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													11	507	---	---	---	---					
TRBV6-4	28603	broad.mit.edu	37	7	142250763	142250764	+	RNA	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142250763_142250764insG	ENST00000390360.3	-	0	303_304																											CGCCAACGTGAGGGGGAAATCA	0.495													8	453	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142478881	142478882	+	RNA	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142478881_142478882insAG	ENST00000603901.1	+	0	40					NR_001296.3																						GAGCTGCTGGTGAGTTTCATGC	0.554													8	108	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													8	419	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579													8	919	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													9	702	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3267089	3267090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:3267089_3267090insG	ENST00000520002.1	-	14	2157_2158	c.1602_1603insC	c.(1600-1605)cccctafs	p.L535fs	CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.L535fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	535	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATAGGCGGGGATTCCAG	0.480													19	60	---	---	---	---					
PRSS55	203074	broad.mit.edu	37	8	10387069	10387070	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:10387069_10387070insG	ENST00000328655.3	+	2	247_248	c.207_208insG	c.(205-210)acggggfs	p.TG69fs	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	69	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCAGAATCACAGGGGGGATGGA	0.500													21	2840	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													13	1091	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													8	628	---	---	---	---					
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)cccfs	p.P801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525													10	333	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													17	195	---	---	---	---					
TRPA1	8989	broad.mit.edu	37	8	72981375	72981376	+	Frame_Shift_Ins	INS	-	-	T	rs61753713	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:72981375_72981376insT	ENST00000262209.4	-	3	533_534	c.326_327insA	c.(325-327)acafs	p.T109fs		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	109						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCAATTTGGTTTTTTTCTAC	0.401													7	794	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664918	124664919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:124664918_124664919insG	ENST00000325995.7	-	1	271_272	c.248_249insC	c.(247-249)cacfs	p.H83fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579													11	397	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													7	154	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426													17	620	---	---	---	---					
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)cccfs	p.P606fs	BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	606	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564													13	750	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						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)		TTCTCACAGATCCCCCCCAAGT	0.564													8	118	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27185544	27185545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:27185544_27185545insC	ENST00000380036.4	+	9	1686_1687	c.1244_1245insC	c.(1243-1245)cccfs	p.P415fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	415	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CACCGGATCCTCCCCCCTGACT	0.436													8	639	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													13	121	---	---	---	---					
C9orf85	138241	broad.mit.edu	37	9	74526716	74526717	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:74526716_74526717insA	ENST00000486911.2	+	1	140_141	c.66_67insA	c.(64-69)ttaaaafs	p.LK22fs	C9orf85_ENST00000377031.3_Frame_Shift_Ins_p.LK22fs|C9orf85_ENST00000334731.2_Frame_Shift_Ins_p.LK22fs			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	22										kidney(2)|large_intestine(1)|lung(4)	7						CGTTTAGCTTCAAAAATGACAA	0.535													8	835	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)cccfs	p.P285fs	PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515													7	1010	---	---	---	---					
TLE1	7088	broad.mit.edu	37	9	84208131	84208132	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84208131_84208132insG	ENST00000376499.3	-	15	2453_2454	c.1389_1390insC	c.(1387-1392)ccacgcfs	p.R464fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	464				DA -> TP (in Ref. 1; AAA61192).	negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAAG	0.564													14	361	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)ggacgcfs	p.R362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629													9	523	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													12	180	---	---	---	---					
ZNF510	22869	broad.mit.edu	37	9	99521719	99521719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:99521719delA	ENST00000375231.1	-	6	2043	c.1393delT	c.(1393-1395)gtfs	p.C465fs	ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTTTCCACATTCATTACAT	0.373													7	231	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													21	251	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													10	774	---	---	---	---					
AMBP	259	broad.mit.edu	37	9	116824991	116824992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:116824991_116824992insC	ENST00000265132.3	-	7	912_913	c.650_651insG	c.(649-651)gggfs	p.G217fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	217	Glycopeptide (secretory piece).				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGTTGCCCACCCCCTGATCC	0.545													7	541	---	---	---	---					
CRB2	286204	broad.mit.edu	37	9	126125160	126125161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:126125160_126125161insC	ENST00000373631.3	+	2	112_113	c.111_112insC	c.(109-114)gaccccfs	p.DP37fs	CRB2_ENST00000359999.3_Frame_Shift_Ins_p.DP37fs	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	37						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCTTCAGAGCCCCCCAGTGC	0.649													7	100	---	---	---	---					
LRSAM1	90678	broad.mit.edu	37	9	130236098	130236099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:130236098_130236099insC	ENST00000323301.4	+	10	1242_1243	c.638_639insC	c.(637-639)tccfs	p.S213fs	LRSAM1_ENST00000373322.1_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000373324.4_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000300417.6_Frame_Shift_Ins_p.S213fs	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	213					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGGAATACTACCCCCCTTCTC	0.579													16	1760	---	---	---	---					
CERCAM	51148	broad.mit.edu	37	9	131186543	131186544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:131186543_131186544insC	ENST00000372842.1	+	5	3463_3464	c.319_320insC	c.(319-321)cccfs	p.P107fs	CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.P185fs			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	185					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGTG	0.634													9	481	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5023-5028)gcggggfs	p.AG1675fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594													8	245	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390735	139390736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139390735_139390736insG	ENST00000277541.6	-	34	7530_7531	c.7455_7456insC	c.(7453-7458)cccgcafs	p.A2486fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2486					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGTGCTGCGAGGGGGGCGTCA	0.683			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	217	---	---	---	---					
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggtfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						Golgi apparatus|plasma membrane	zinc ion binding	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634													74	1468	---	---	---	---					
EHMT1	79813	broad.mit.edu	37	9	140622908	140622909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140622908_140622909insC	ENST00000460843.1	+	4	777_778	c.750_751insC	c.(748-753)ttccccfs	p.FP250fs	EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.FP219fs|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.FP250fs|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	250					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCAGCTTTTACCCCCCTTCCC	0.480													7	468	---	---	---	---					
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)gtafs	p.V89fs	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.520													8	563	---	---	---	---					
ZNF32	7580	broad.mit.edu	37	10	44139605	44139605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:44139605delG	ENST00000395797.1	-	3	903	c.715delC	c.(715-717)acfs	p.H239fs	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TCTCCTGTGTGGATTTTGCCA	0.547													7	31	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													15	990	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													20	533	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													47	390	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													11	282	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													7	1115	---	---	---	---					
UBTD1	80019	broad.mit.edu	37	10	99330115	99330116	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:99330115_99330116insCT	ENST00000370664.3	+	3	855_856	c.519_520insCT	c.(517-522)catcaafs	p.Q174fs		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	174	Ubiquitin-like.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CAGTGGGGCAGCTCAAGAGGCA	0.678													14	13	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													23	1416	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													26	2052	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.530													9	500	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													11	197	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)cccfs	p.P2404fs	DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.P2404fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644													8	45	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													9	611	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													8	444	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6661724	6661725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6661724_6661725insG	ENST00000299441.3	-	2	1531_1532	c.1120_1121insC	c.(1120-1122)agtfs	p.S374fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGACACTTGGGGGGAGCCA	0.569													9	335	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													19	316	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				13	149	---	---	---	---					
PRR5L	79899	broad.mit.edu	37	11	36484165	36484166	+	Frame_Shift_Ins	INS	-	-	C	rs143061946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:36484165_36484166insC	ENST00000378867.3	+	10	1341_1342	c.986_987insC	c.(985-987)tccfs	p.S329fs	PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	329										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACCCAGCTTCCCCCCGCCCC	0.673													7	311	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46900582	46900588	+	Splice_Site	DEL	TGTAGAC	TGTAGAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:46900582_46900588delTGTAGAC	ENST00000378623.1	-	22	3248_3254	c.3004_splice	c.e22-1	p.VST1002_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1002					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TAGCACATGGTGTAGACACTGGGTAGA	0.594													62	455	---	---	---	---					
PTPRJ	5795	broad.mit.edu	37	11	48149449	48149450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48149449_48149450insG	ENST00000418331.2	+	7	1563_1564	c.1211_1212insG	c.(1210-1212)gggfs	p.G404fs	PTPRJ_ENST00000440289.2_Frame_Shift_Ins_p.G404fs	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	404	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACATGTGGCGGGGGAGACAG	0.535													9	1046	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													10	409	---	---	---	---					
OR5AK2	390181	broad.mit.edu	37	11	56756931	56756932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56756931_56756932insC	ENST00000326855.2	+	1	585_586	c.543_544insC	c.(541-546)gtccccfs	p.VP181fs		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTGTGATGTTCCCCCTATTCT	0.406													8	1490	---	---	---	---					
SMTNL1	219537	broad.mit.edu	37	11	57308986	57308987	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57308986_57308987insG	ENST00000457912.1	+	1	8_9	c.8_9insG	c.(7-9)cggfs	p.R3fs				E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	0										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCATGCTCCCGGGGGCAGTTG	0.525													10	1109	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													14	381	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													15	349	---	---	---	---					
DTX4	23220	broad.mit.edu	37	11	58962826	58962827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:58962826_58962827insC	ENST00000227451.3	+	7	1624_1625	c.1520_1521insC	c.(1519-1521)accfs	p.T507fs	DTX4_ENST00000532982.1_Frame_Shift_Ins_p.T401fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	507					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ATCTACAGCATCCCCCCCGGCA	0.505													10	326	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					18	502	---	---	---	---					
STIP1	10963	broad.mit.edu	37	11	63965370	63965370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:63965370delA	ENST00000358794.5	+	8	1641	c.1088delA	c.(1087-1089)tcfs	p.Y363fs	STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs|STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	316					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGAAAAGTACAAGGATGCC	0.453													82	324	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64508387	64508388	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:64508387_64508388insC	ENST00000394430.1	-	4	2125_2126	c.403_404insG	c.(403-405)actfs	p.T135fs	RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000354024.3_Intron|RASGRP2_ENST00000394428.1_3'UTR			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	0					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATACTGAGTGCCCCCCCAGCC	0.530											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	146	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66052322	66052323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66052322_66052323insG	ENST00000471387.2	-	5	581_582	c.327_328insC	c.(325-330)ccttccfs	p.S110fs	YIF1A_ENST00000376901.4_Intron|YIF1A_ENST00000359461.6_Intron|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_Intron|YIF1A_ENST00000496746.1_Intron			O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	253					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GGCAGGGGAATGGGGGGGTGCA	0.629													8	53	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321993	66321994	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66321993_66321994insC	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCTCCCACCTCCCCCCGACCC	0.530													14	608	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													28	2329	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								9	289	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)ccaagtfs	p.S751fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411													7	324	---	---	---	---					
KIAA1377	57562	broad.mit.edu	37	11	101786091	101786092	+	Frame_Shift_Ins	INS	-	-	C	rs146972831		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:101786091_101786092insC	ENST00000263468.8	+	1	346_347	c.76_77insC	c.(76-78)cccfs	p.P26fs	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	26							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTCGACAGAGCCCCCCTCGGC	0.663													9	927	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													8	396	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(31-36)ctggggfs	p.LG11fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	11						integral to membrane|tight junction	structural molecule activity	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.550													9	245	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													19	723	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													7	130	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													13	535	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124756678	124756679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:124756678_124756679insG	ENST00000306534.3	-	16	2960_2961	c.2475_2476insC	c.(2473-2478)ccccacfs	p.H826fs	ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	826					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCATAGGTGGTGGGGGGTGAAG	0.599													8	790	---	---	---	---					
FKBP4	2288	broad.mit.edu	37	12	2907010	2907011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:2907010_2907011insC	ENST00000001008.4	+	3	553_554	c.366_367insC	c.(364-369)atccccfs	p.IP122fs	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	122	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTCCAAAGATTCCCCCCAATGC	0.554													9	1087	---	---	---	---					
KCNA5	3741	broad.mit.edu	37	12	5154786	5154787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:5154786_5154787insG	ENST00000252321.3	+	1	1702_1703	c.1473_1474insG	c.(1471-1476)gtggggfs	p.VG491fs		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	491						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCATCACTGTTGGGGGCAAGAT	0.599													18	1978	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													25	1169	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701872	6701873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6701872_6701873insG	ENST00000309577.6	-	18	2926_2927	c.2763_2764insC	c.(2761-2766)ccagagfs	p.E922fs	CHD4_ENST00000544040.1_Frame_Shift_Ins_p.E915fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.E919fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.E922fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	922	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.P921P(2)		central_nervous_system(2)	2						TGGAACCTCTCGGGGGTGAGAA	0.421													7	769	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													27	518	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1206)cggfs	p.R402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGATTGTGCTGGGGGGCGTCG	0.629													7	370	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													9	548	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14018756	14018757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14018756_14018757insC	ENST00000279593.3	-	2	595_596	c.386_387insG	c.(385-387)gtcfs	p.V129fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	129					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAGAGGAGCCCCCGTGGAT	0.520													8	1221	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													35	572	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)tgtfs	p.C374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTGTCAACATCCCCCCAGTCA	0.470													13	1342	---	---	---	---					
ART4	420	broad.mit.edu	37	12	14993710	14993711	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14993710_14993711insC	ENST00000228936.4	-	2	902_903	c.521_522insG	c.(520-522)aatfs	p.N174fs	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	174					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCTCCATGATGCTGTCTTTCCT	0.480													7	457	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20885883	20885884	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:20885883_20885884insG	ENST00000381552.1	+	10	1595_1596	c.1227_1228insG	c.(1225-1230)tcggggfs	p.SG409fs	SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	409					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAATATTCTCTGGGGGGATAGT	0.381													7	445	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50453702	50453703	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50453702_50453703insG	ENST00000228468.4	+	3	908_909	c.523_524insG	c.(523-525)gggfs	p.G175fs	ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G175fs	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	175					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGCCACTTCCGGGGGGAGGTC	0.594													14	179	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50471134	50471135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50471134_50471135insG	ENST00000228468.4	+	4	1082_1083	c.697_698insG	c.(697-699)gggfs	p.G233fs	ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.G267fs	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	233					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTGCCTGTGTGGGGGGAGACT	0.649													9	314	---	---	---	---					
SPRYD3	84926	broad.mit.edu	37	12	53468917	53468917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53468917delC	ENST00000301463.4	-	4	419	c.333delG	c.(331-333)tgfs	p.W111fs	SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	111	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTCAGGCAACCAGCCAGGCT	0.532													18	161	---	---	---	---					
TARBP2	6895	broad.mit.edu	37	12	53898183	53898184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53898183_53898184insC	ENST00000266987.2	+	5	908_909	c.425_426insC	c.(424-426)accfs	p.T142fs	TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564													7	83	---	---	---	---					
GPR84	53831	broad.mit.edu	37	12	54757553	54757554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54757553_54757554insC	ENST00000551809.1	-	1	717_718	c.82_83insG	c.(82-84)ggtfs	p.G28fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.G28fs			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCTA	0.564													9	214	---	---	---	---					
ITGA5	3678	broad.mit.edu	37	12	54801454	54801454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54801454delT	ENST00000293379.4	-	9	1146	c.885delA	c.(883-885)aafs	p.K295fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	295					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGGTTCCCTTTGGGCACAC	0.522													11	167	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													18	596	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													10	1126	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-1998)tggfs	p.W666fs	ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.550													16	1310	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56558259_56558260insG	ENST00000550164.1	-	28	3502_3503	c.3488_3489insC	c.(3487-3489)cccfs	p.P1163fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614													9	629	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56575340	56575341	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56575340_56575341insC	ENST00000394023.3	-	10	986_987	c.881_882insG	c.(880-882)gaafs	p.E294fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTTATAGTTTCCCCCCTTCTT	0.515													13	648	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													19	281	---	---	---	---					
GLS2	27165	broad.mit.edu	37	12	56867067	56867067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56867067delT	ENST00000311966.4	-	14	1672	c.1394delA	c.(1393-1395)acfs	p.N465fs		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	465					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGCCTCAGGTTGTCATAGTT	0.423													19	384	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													58	762	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57865760	57865761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57865760_57865761insC	ENST00000228682.2	+	12	3328_3329	c.3237_3238insC	c.(3235-3240)ggccccfs	p.GP1079fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.GP951fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.GP1038fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1079					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCCTCTGGGCCCCCCAACAT	0.554													12	852	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													18	344	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								13	272	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													10	190	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			31	796	---	---	---	---					
RFX4	5992	broad.mit.edu	37	12	107126021	107126022	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:107126021_107126022delAG	ENST00000392842.1	+	14	1879_1880	c.1465_1466delAG	c.(1465-1467)cfs	p.S489fs	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	489					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGGAGAAGGAAGCACTGGTAAG	0.431													40	453	---	---	---	---					
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:109927823_109927824insC	ENST00000537063.1	+	8	881_882	c.644_645insC	c.(643-645)tccfs	p.S215fs	UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTGACTCCTGCCCCCCAGTGT	0.465													9	318	---	---	---	---					
HVCN1	84329	broad.mit.edu	37	12	111099018	111099019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:111099018_111099019insG	ENST00000356742.5	-	3	1009_1010	c.256_257insC	c.(256-258)tgafs	p.*86fs	HVCN1_ENST00000548312.1_Frame_Shift_Ins_p.*86fs|HVCN1_ENST00000439744.2_Frame_Shift_Ins_p.*66fs|HVCN1_ENST00000242607.8_Frame_Shift_Ins_p.*86fs			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	86					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCTGAAGTCAAGGGGGGCCCTG	0.658													7	976	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs|BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													9	243	---	---	---	---					
ALDH2	217	broad.mit.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-858)cggfs	p.R286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma								34	615	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112690348_112690349insG	ENST00000377560.5	-	22	3310_3311	c.2915_2916insC	c.(2914-2916)ctcfs	p.L972fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs					HECT domain containing E3 ubiquitin protein ligase 4																		AATTTAAGGAAGGGGGGGAAAT	0.396													11	189	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													15	676	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													7	248	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													18	221	---	---	---	---					
LRRC43	254050	broad.mit.edu	37	12	122670832	122670833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122670832_122670833insC	ENST00000339777.4	+	3	535_536	c.507_508insC	c.(505-510)ctccccfs	p.LP169fs	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	169										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCACCAATCTGCCCCCCACACT	0.569													7	132	---	---	---	---					
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)gagfs	p.E459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495													25	893	---	---	---	---					
CCDC62	84660	broad.mit.edu	37	12	123276590	123276591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:123276590_123276591insA	ENST00000253079.6	+	6	1038_1039	c.694_695insA	c.(694-696)aaafs	p.K232fs	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	232						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAGACGACAGAAAATAATGAG	0.381													9	998	---	---	---	---					
NCOR2	9612	broad.mit.edu	37	12	124885064	124885065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:124885064_124885065insG	ENST00000356219.3	-	16	1950_1951	c.1795_1796insC	c.(1795-1797)gcafs	p.A599fs	NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A599fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A169fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A599fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGCTCTGCTGGGGGGTGATG	0.624													7	401	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													11	223	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)ccaaagfs	p.PK121fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	121						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366													8	190	---	---	---	---					
OR4Q3	441669	broad.mit.edu	37	14	20215682	20215683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:20215682_20215683insT	ENST00000331723.1	+	1	96_97	c.96_97insT	c.(94-99)ttttttfs	p.FF32fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTATTTTTGTTTTTTTACAT	0.381													8	363	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505													7	651	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													9	941	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													11	227	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													16	255	---	---	---	---					
SLC7A8	23428	broad.mit.edu	37	14	23608664	23608665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23608664_23608665insG	ENST00000316902.7	-	6	1605_1606	c.880_881insC	c.(880-882)ggafs	p.G294fs	SLC7A8_ENST00000453702.1_Frame_Shift_Ins_p.G91fs|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Frame_Shift_Ins_p.G70fs|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Frame_Shift_Ins_p.G189fs	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	294					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGCAGCTCCTGGGGGGACATT	0.520													8	1275	---	---	---	---					
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2940)cccfs	p.P980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594													10	83	---	---	---	---					
IPO4	79711	broad.mit.edu	37	14	24655355	24655356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:24655355_24655356insG	ENST00000354464.6	-	11	1214_1215	c.1038_1039insC	c.(1036-1041)ccagaafs	p.E347fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	347					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTTCTCGGGGGGCAGGT	0.589													9	372	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													15	2335	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31590706	31590706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:31590706delC	ENST00000399332.1	-	28	5609	c.5121delG	c.(5119-5121)ctfs	p.L1707fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1707					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATGGGCGTCTCAGAATCTAAA	0.478													26	323	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)aaafs	p.K180fs	PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAGCTTCCTTGAAAAAAAAGTG	0.406													7	299	---	---	---	---					
CDKL1	8814	broad.mit.edu	37	14	50862468	50862468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:50862468delT	ENST00000216378.2	-	2	766	c.122delA	c.(121-123)gtfs	p.D42fs	CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	41	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GACAGGGTCATCTTCTGATTC	0.403													44	127	---	---	---	---					
NID2	22795	broad.mit.edu	37	14	52481916	52481917	+	Frame_Shift_Ins	INS	-	-	T	rs946615	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:52481916_52481917insT	ENST00000216286.5	-	15	3104_3105	c.3105_3106insA	c.(3103-3108)cgatgafs	p.*1036fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.*935fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1036	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACTGGTCATCCCGGGGGGTGC	0.629													7	216	---	---	---	---					
FBXO34	55030	broad.mit.edu	37	14	55818226	55818227	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:55818226_55818227insC	ENST00000313833.4	+	2	1363_1364	c.1118_1119insC	c.(1117-1119)tccfs	p.S373fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.S373fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	373										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCTCAGGACTGCCCCCCATTGC	0.530													7	420	---	---	---	---					
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs149471226		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1041)gggfs	p.G347fs	CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta									p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599													11	256	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													11	233	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													13	858	---	---	---	---					
PCNX	22990	broad.mit.edu	37	14	71444748	71444749	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71444748_71444749insA	ENST00000304743.2	+	6	2140_2141	c.1694_1695insA	c.(1693-1695)gaafs	p.E565fs	PCNX_ENST00000439984.3_Frame_Shift_Ins_p.E565fs|PCNX_ENST00000238570.5_Frame_Shift_Ins_p.E565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGACGCACAGGAAAAAAACGGG	0.475													10	1061	---	---	---	---					
GPR65	8477	broad.mit.edu	37	14	88477555	88477555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:88477555delT	ENST00000267549.3	+	2	922	c.364delT	c.(364-366)ttfs	p.F124fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	124					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CCCTTTGAAGTTTTTTTTCCT	0.428													7	1097	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)ccaggtfs	p.G387fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.490													11	278	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105416915	105416927	+	Frame_Shift_Del	DEL	CCATGCTGGACAG	CCATGCTGGACAG	-	rs71421895	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:105416915_105416927delCCATGCTGGACAG	ENST00000333244.5	-	7	4980_4992	c.4861_4873delCTGTCCAGCATGG	c.(4861-4875)agfs	p.LSSME1621fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCCACCTCCATGCTGGACAGAGACATCTTC	0.606													8	85	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105417410	105417422	+	Frame_Shift_Del	DEL	CCACGCTGGGCAG	CCACGCTGGGCAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:105417410_105417422delCCACGCTGGGCAG	ENST00000333244.5	-	7	4485_4497	c.4366_4378delCTGCCCAGCGTGG	c.(4366-4380)agfs	p.LPSVE1456fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1456						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTCCACGCTGGGCAGAGAAACCTCC	0.577													13	59	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													39	875	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31355449	31355450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:31355449_31355450insC	ENST00000542188.1	-	7	1200_1201	c.887_888insG	c.(886-888)gccfs	p.A296fs	TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	257					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCAC	0.614													7	352	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													12	337	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1860)tccfs	p.S620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCCTGCCCTGCCCCCCACGCT	0.569													8	514	---	---	---	---					
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)ccaaggfs	p.R122fs	BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569													15	872	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	227	---	---	---	---					
GANC	2595	broad.mit.edu	37	15	42614143	42614144	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42614143_42614144insGA	ENST00000318010.8	+	11	1458_1459	c.1218_1219insGA	c.(1216-1221)agacttfs	p.L407fs		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	407					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGGGCAAGAGGTACTTCACCTG	0.465													20	147	---	---	---	---					
DUOX2	50506	broad.mit.edu	37	15	45390258	45390259	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:45390258_45390259insG	ENST00000389039.6	-	27	3901		c.e27-2		DUOX2_ENST00000603300.1_Splice_Site			Q9NRD8	DUOX2_HUMAN	dual oxidase 2						cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCTTGGACCTGGGGGGCAAAG	0.584													7	278	---	---	---	---					
SLC12A1	6557	broad.mit.edu	37	15	48539131	48539132	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:48539131_48539132insC	ENST00000396577.3	+	12	1693_1694	c.1478_1479insC	c.(1477-1479)gccfs	p.A493fs	SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.A493fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.A493fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	493					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCAGGGTTCGGCCCCCTCATCA	0.495													9	3167	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attcacfs	p.H1134fs	VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1134					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						ACATCTGTGACAATAATATTTT	0.322													8	38	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63131164	63131165	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:63131164_63131165insG	ENST00000561311.1	+	57	7714_7715	c.7484_7485insG	c.(7483-7485)gggfs	p.G2495fs	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs			Q9Y4G6	TLN2_HUMAN	talin 2	2495	I/LWEQ.				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						ACCAAGTTTGTGGGGGGCATTG	0.426													7	141	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccagafs	p.R872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663													10	75	---	---	---	---					
ITGA11	22801	broad.mit.edu	37	15	68596149	68596150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:68596149_68596150insC	ENST00000423218.2	-	29	3553_3554	c.3458_3459insG	c.(3457-3459)gctfs	p.A1153fs	ITGA11_ENST00000315757.7_Frame_Shift_Ins_p.A1152fs			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1152	Poly-Leu.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGTAGGAGGCCCCCCAGGGT	0.658													10	505	---	---	---	---					
GOLGA6C	653641	broad.mit.edu	37	15	75562488	75562489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:75562488_75562489insC	ENST00000300576.5	+	18	2030_2031	c.2030_2031insC	c.(2029-2031)accfs	p.T677fs		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677										ovary(1)	1						CCCCATGACAACCCCCCGGTAC	0.604													8	707	---	---	---	---					
LOC645752	645752	broad.mit.edu	37	15	78214328	78214329	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:78214328_78214329insC	ENST00000565869.1	+	0	320_321				RP11-114H24.2_ENST00000567226.1_RNA																							GCATCTGAGTGCCCCCCAAACC	0.530													11	478	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													11	189	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)ggctggfs	p.W223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614													11	144	---	---	---	---					
OR4F6	390648	broad.mit.edu	37	15	102346204	102346205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:102346204_102346205insG	ENST00000328882.4	+	1	303_304	c.282_283insG	c.(280-285)ttggggfs	p.LG94fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATCTCTTTTGGGGGCTGTGT	0.455													8	1219	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													9	572	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													9	384	---	---	---	---					
ZNF200	7752	broad.mit.edu	37	16	3273975	3273976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3273975_3273976insT	ENST00000431561.3	-	5	1716_1717	c.1104_1105insA	c.(1102-1107)aagtggfs	p.W369fs	ZNF200_ENST00000396868.3_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000414144.2_Frame_Shift_Ins_p.W369fs|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000396870.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000575948.1_Frame_Shift_Ins_p.W368fs	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTTCTCCCACATTTTTTGCAAC	0.455													8	539	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					34	733	---	---	---	---					
ADCY9	115	broad.mit.edu	37	16	4016046	4016047	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:4016046_4016047delGA	ENST00000294016.3	-	11	4329_4330	c.3791_3792delTC	c.(3790-3792)gfs	p.V1264fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1264				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATCCACCTGGACGCGGATGTC	0.569													8	99	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)ttcagafs	p.R36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441													12	1192	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													15	1649	---	---	---	---					
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:14346299_14346300insC	ENST00000571589.1	+	15	2815_2816	c.2643_2644insC	c.(2641-2646)gaccccfs	p.DP881fs	MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	870					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564													7	80	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													14	997	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	390	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28919982	28919983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:28919982_28919983insG	ENST00000358201.4	-	8	1780_1781	c.1192_1193insC	c.(1192-1194)gggfs	p.G398fs	RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.G366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.G327fs	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTGCGAGCCCTGGGGGGCTGAG	0.644													8	114	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													8	93	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531243	30531244	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:30531243_30531244insG	ENST00000356798.6	+	30	3474_3475	c.3294_3295insG	c.(3292-3297)atggggfs	p.MG1098fs	ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1098					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGAGCGGCATCGGGGGGCTGCT	0.599													7	367	---	---	---	---					
CES1	1066	broad.mit.edu	37	16	55857568	55857569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:55857568_55857569insC	ENST00000422046.2	-	4	710_711	c.429_430insG	c.(427-432)ggtgatfs	p.D144fs	CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs			P23141	EST1_HUMAN	carboxylesterase 1	144					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCCACCATCAGCCCCCCTCCGT	0.559													10	779	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													25	283	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)gggfs	p.G408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559													11	230	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68835780	68835781	+	Frame_Shift_Ins	INS	-	-	C	rs115418995	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:68835780_68835781insC	ENST00000261769.5	+	3	562_563	c.371_372insC	c.(370-372)cccfs	p.P124fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P124fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	124					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.P126fs*89(1)|p.P127fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACCACCACCGCCCCCCGCCCC	0.500			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				9	398	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991757	72991758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:72991757_72991758insC	ENST00000268489.5	-	2	2959_2960	c.2287_2288insG	c.(2287-2289)gcafs	p.A763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCCA	0.624													16	384	---	---	---	---					
NUDT7	283927	broad.mit.edu	37	16	77775743	77775744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:77775743_77775744insA	ENST00000268533.5	+	4	682_683	c.613_614insA	c.(613-615)aaafs	p.K205fs	NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.K152fs|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TATCATTTTGGAAAAAAAACCC	0.381													7	417	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													15	642	---	---	---	---					
CXCL16	58191	broad.mit.edu	37	17	4638739	4638740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:4638739_4638740insG	ENST00000293778.6	-	4	844_845	c.422_423insC	c.(421-423)catfs	p.H141fs	CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	122					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						CCTGAGAAATTGGGGGGCTGGT	0.550													8	590	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													7	582	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													8	146	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634													12	140	---	---	---	---					
PMP22	5376	broad.mit.edu	37	17	15142825	15142826	+	Frame_Shift_Ins	INS	-	-	C	rs80338763		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:15142825_15142826insC	ENST00000395938.2	-	4	475_476	c.281_282insG	c.(280-282)gagfs	p.E94fs	PMP22_ENST00000312280.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000426385.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000395936.1_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000494511.1_Frame_Shift_Ins_p.G35fs	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	94					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TGTAAAACCTGCCCCCCTTGGT	0.500													7	626	---	---	---	---					
FAM83G	644815	broad.mit.edu	37	17	18881020	18881021	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:18881020_18881021insTC	ENST00000388995.6	-	5	2181_2182	c.1958_1959insGA	c.(1957-1959)catfs	p.H653fs	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	653										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCGGGTTATATGGGGGGCACT	0.644													7	5	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)cgafs	p.R673fs	KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505													13	915	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:27244345_27244346insG	ENST00000577226.1	-	7	1437_1438	c.1091_1092insC	c.(1090-1092)caafs	p.Q364fs	PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs			Q96QT6	PHF12_HUMAN	PHD finger protein 12	364	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACGCCGGTTAGGGGGGTGCTT	0.530													11	889	---	---	---	---					
BLMH	642	broad.mit.edu	37	17	28618354	28618355	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:28618354_28618355insT	ENST00000261714.6	-	2	359_360	c.185_186insA	c.(184-186)accfs	p.T62fs	BLMH_ENST00000394819.3_Frame_Shift_Ins_p.P12fs	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	62					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TGGTGATTGGCTTGCCCTCCTG	0.579													11	1271	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													12	91	---	---	---	---					
LIG3	3980	broad.mit.edu	37	17	33318739	33318740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:33318739_33318740insC	ENST00000378526.4	+	6	1224_1225	c.1091_1092insC	c.(1090-1092)tccfs	p.S364fs	LIG3_ENST00000262327.5_Frame_Shift_Ins_p.S364fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	364					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCAAGTCTTTCCCCCCAGCTG	0.545								Other BER factors					11	1127	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34074256	34074257	+	Frame_Shift_Ins	INS	-	-	G	rs139867246	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34074256_34074257insG	ENST00000254466.6	-	5	890_891	c.863_864insC	c.(862-864)cgcfs	p.R288fs	GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.R272fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	288					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGTGGGGCCGGGGGCTTCAG	0.599													8	219	---	---	---	---					
IKZF3	22806	broad.mit.edu	37	17	37922280	37922281	+	Frame_Shift_Ins	INS	-	-	A	rs114183106	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:37922280_37922281insA	ENST00000346872.3	-	8	1353_1354	c.1292_1293insT	c.(1291-1293)cccfs	p.P431fs	IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.P375fs|IKZF3_ENST00000439167.2_Frame_Shift_Ins_p.P358fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.P336fs|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.P249fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.P344fs|IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.P392fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.P353fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.P288fs|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.P297fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.P210fs|IKZF3_ENST00000583368.1_Frame_Shift_Ins_p.P184fs|IKZF3_ENST00000535189.1_Frame_Shift_Ins_p.P397fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.P392fs	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGATGGGCGGGGGCTTGAG	0.550													8	351	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													7	128	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:42478248_42478249insG	ENST00000434000.1	-	9	1244_1245	c.962_963insC	c.(961-963)cgcfs	p.R321fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	469	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													7	297	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48683537	48683539	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:48683537_48683539delAAA	ENST00000416767.4	+	23	4603_4605	c.4575_4577delAAA	c.(4573-4578)gcg>gc	p.AK1525del	CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000512389.1_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	0					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCATGTCGCAAAGCCCAGTCCA	0.571													16	33	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													7	97	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													11	904	---	---	---	---					
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(952-957)ccccccfs	p.PP318fs	PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	318					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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545													20	640	---	---	---	---					
CSHL1	1444	broad.mit.edu	37	17	61987865	61987866	+	Frame_Shift_Ins	INS	-	-	CCCA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61987865_61987866insCCCA	ENST00000392824.4	-	2	490_491	c.429_430insTGGG	c.(427-432)atattcfs	p.F144fs	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGCAGGAATGAATACTTCTGT	0.505													145	157	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:63532584_63532585insC	ENST00000307078.5	-	8	2307_2308	c.1994_1995insG	c.(1993-1995)gaafs	p.E665fs	AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				8	109	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													8	378	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													21	532	---	---	---	---					
MRPL38	64978	broad.mit.edu	37	17	73895694	73895695	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:73895694_73895695insG	ENST00000309352.3	-	7	1308_1309	c.771_772insC	c.(769-774)cctcccfs	p.P258fs	MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	258						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCAGGGAAGGGGGGGAGGT	0.614													3	5	---	---	---	---					
UBE2O	63893	broad.mit.edu	37	17	74394437	74394440	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:74394437_74394440delCACT	ENST00000319380.7	-	12	1985_1988	c.1921_1924delAGTG	c.(1921-1926)ttfs	p.SV641fs	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	641							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCGTAAACACTCACATCTTCC	0.534											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	290	---	---	---	---					
MGAT5B	146664	broad.mit.edu	37	17	74936520	74936521	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:74936520_74936521insC	ENST00000569840.2	+	14	2195_2196	c.1621_1622insC	c.(1621-1623)cccfs	p.P541fs	MGAT5B_ENST00000301618.4_Frame_Shift_Ins_p.P539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Ins_p.P550fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	541						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGGGCCCCGCCCCCCTGGAG	0.658													10	949	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76079156	76079157	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:76079156_76079157insA	ENST00000335749.4	+	11	3946_3947	c.3377_3378insA	c.(3376-3378)gaafs	p.E1126fs	TNRC6C_ENST00000588847.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000588061.1_Frame_Shift_Ins_p.E1129fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1129					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGTTTGCAGCAAAAAACATTG	0.386													10	2478	---	---	---	---					
CYTH1	9267	broad.mit.edu	37	17	76677055	76677056	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:76677055_76677056insT	ENST00000589297.1	-	12	1475_1476	c.783_784insA	c.(781-786)aacaaafs	p.NK261fs	CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs			Q15438	CYH1_HUMAN	cytohesin 1	320	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ATACTCACTGGTTTTTTGGAGT	0.396													8	672	---	---	---	---					
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:13113612_13113613insG	ENST00000506447.1	+	41	7155_7156	c.7075_7076insG	c.(7075-7077)gggfs	p.G2359fs	CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1954										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCCAGAGGTAGGGGGGATTAT	0.426													12	1138	---	---	---	---					
GAREM	64762	broad.mit.edu	37	18	29867327	29867328	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:29867327_29867328insC	ENST00000399218.4	-	4	1287_1288	c.1232_1233insG	c.(1231-1233)ggafs	p.G411fs	GAREM_ENST00000269209.6_Frame_Shift_Ins_p.G411fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GAGCCCAATCTCCCCCCAGGTC	0.545													18	791	---	---	---	---					
ZNF397	84307	broad.mit.edu	37	18	32823300	32823301	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:32823300_32823301insAG	ENST00000585800.1	+	3	1313_1314	c.599_600insAG	c.(598-600)cctfs	p.P200fs	ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000261333.6_Intron			Q8NF99	ZN397_HUMAN	zinc finger protein 397	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ACACTTAGGCCTCTGTTTTTGA	0.436													14	100	---	---	---	---					
EPG5	57724	broad.mit.edu	37	18	43460063	43460064	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:43460063_43460064delCA	ENST00000282041.5	-	32	5677_5678	c.5643_5644delTG	c.(5641-5646)tcatfs	p.SD1881fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1881					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGAGCATCAGAAGAGCTGG	0.554											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77	---	---	---	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:55992284_55992286delTCC	ENST00000456986.1	+	9	807_809	c.207_209delTCC	c.(205-210)ctt>ct	p.LP69del	NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	190	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													9	1073	---	---	---	---					
GIPC3	126326	broad.mit.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(676-681)tcggggfs	p.SG226fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	226										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609													9	237	---	---	---	---					
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:5590342_5590343insC	ENST00000252542.4	-	18	2735_2736	c.2471_2472insG	c.(2470-2472)gtafs	p.V824fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688													7	154	---	---	---	---					
RFX2	5990	broad.mit.edu	37	19	6026217	6026218	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:6026217_6026218insT	ENST00000303657.5	-	6	702_703	c.553_554insA	c.(553-555)cgafs	p.R185fs	RFX2_ENST00000359161.3_Frame_Shift_Ins_p.R185fs|RFX2_ENST00000592546.1_Intron	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCCTTCGCTTTTTTGGAGG	0.401													7	411	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)gggfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCCCGTGCCACCCCCCAGCGA	0.649													8	239	---	---	---	---					
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7168022_7168023insG	ENST00000341500.5	-	7	1605_1606	c.1566_1567insC	c.(1564-1569)ccacttfs	p.L523fs	INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCGGAAGTCGGGGGGCCAGT	0.475													14	794	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													20	433	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													9	377	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													18	345	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10472525	10472526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10472525_10472526insG	ENST00000525621.1	-	13	2360_2361	c.1879_1880insC	c.(1879-1881)cgtfs	p.R627fs	TYK2_ENST00000524462.1_Frame_Shift_Ins_p.R442fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.R627fs|TYK2_ENST00000529370.1_Frame_Shift_Ins_p.R627fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	627	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCAGGCACGAGGGGGTCCTCG	0.663													11	556	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	543	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													17	482	---	---	---	---					
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)ggaaccfs	p.T95fs	ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421													8	659	---	---	---	---					
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(154-159)caggggfs	p.QG52fs	AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	52					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594													8	327	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													21	848	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16925910	16925911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16925910_16925911insC	ENST00000552788.1	+	18	4465_4466	c.4465_4466insC	c.(4465-4467)cccfs	p.P1489fs	NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.P1447fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.P1283fs|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.P1354fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1489							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGCTTCATTGCCCCCACCAGG	0.505													7	2430	---	---	---	---					
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)cccfs	p.P95fs	OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639													14	935	---	---	---	---					
RP11-678G14.2	0	broad.mit.edu	37	19	21749277	21749278	+	RNA	DEL	TC	TC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:21749277_21749278delTC	ENST00000594564.1	-	0	134																											AGAAATTATTTCTGTTTTCCCC	0.401													5	7	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768678	+	Frame_Shift_Ins	INS	-	-	G	rs151270303		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:31768677_31768678insG	ENST00000240587.4	-	2	2348_2349	c.2021_2022insC	c.(2020-2022)ccgfs	p.P674fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	674					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGGG	0.658													8	209	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													37	715	---	---	---	---					
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:33703793_33703794insG	ENST00000253188.3	-	3	617_618	c.471_472insC	c.(469-474)ccccacfs	p.H158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639													8	114	---	---	---	---					
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:34887281_34887282insG	ENST00000415930.3	+	13	1341_1342	c.1171_1172insG	c.(1171-1173)gggfs	p.G391fs	GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564													11	522	---	---	---	---					
ARHGAP33	115703	broad.mit.edu	37	19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:36268609_36268610insG	ENST00000007510.4	+	2	213_214	c.69_70insG	c.(67-72)gcggggfs	p.AG23fs	ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	23					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639													8	429	---	---	---	---					
ZNF780B	163131	broad.mit.edu	37	19	40540780	40540781	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40540780_40540781insAT	ENST00000434248.1	-	5	2050_2051	c.1985_1986insAT	c.(1984-1986)acafs	p.T662fs	ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGCATGAATACTCTGATG	0.386													10	512	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													12	473	---	---	---	---					
SHKBP1	92799	broad.mit.edu	37	19	41086321	41086322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:41086321_41086322insC	ENST00000291842.5	+	7	541_542	c.492_493insC	c.(490-495)atccccfs	p.IP164fs	SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	164						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAACACGATGCCCCCCAACCT	0.619													7	258	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													17	267	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													8	724	---	---	---	---					
CD177	57126	broad.mit.edu	37	19	43866410	43866411	+	RNA	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43866410_43866411insG	ENST00000378009.4	+	0	1413_1414				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GTCTCTCACTTGGGGGGTGGGG	0.619													7	108	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													28	614	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)gaafs	p.E297fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723													8	39	---	---	---	---					
PLEKHA4	57664	broad.mit.edu	37	19	49364680	49364681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49364680_49364681insG	ENST00000263265.6	-	5	898_899	c.343_344insC	c.(343-345)aggfs	p.R115fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	115	PH.					cytoplasm|membrane	1-phosphatidylinositol binding	p.R115R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604													8	454	---	---	---	---					
PPP1R15A	23645	broad.mit.edu	37	19	49377235	49377236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49377235_49377236insC	ENST00000200453.5	+	2	1014_1015	c.745_746insC	c.(745-747)cccfs	p.P249fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	249	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACCTCCGTGTCCCCCCGATCT	0.554													10	92	---	---	---	---					
PPP1R15A	23645	broad.mit.edu	37	19	49377485	49377486	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49377485_49377486insC	ENST00000200453.5	+	2	1264_1265	c.995_996insC	c.(994-996)accfs	p.T332fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	332	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCCTGCATCCCCCCACCAA	0.564													10	471	---	---	---	---					
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678													7	234	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													12	287	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													11	102	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)caafs	p.Q681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609													25	1007	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51192558_51192559insG	ENST00000391813.1	-	1	102_103	c.103_104insC	c.(103-105)tttfs	p.F35fs	SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1218					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589													14	233	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)cccfs	p.P353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525													12	377	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													20	304	---	---	---	---					
ZNF432	9668	broad.mit.edu	37	19	52538164	52538165	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52538164_52538165insACAA	ENST00000594154.1	-	5	979_980	c.767_768insTTGT	c.(766-768)aagfs	p.K256fs	ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs			O94892	ZN432_HUMAN	zinc finger protein 432	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATTTCTCTCTTTTATGAATTCT	0.381													18	140	---	---	---	---					
ZNF600	162966	broad.mit.edu	37	19	53270328	53270329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:53270328_53270329insT	ENST00000338230.3	-	3	947_948	c.680_681insA	c.(679-681)tagfs	p.*227fs		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATACCTGACTGAAGGACTTTCC	0.421													8	683	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675768	54675769	+	Frame_Shift_Ins	INS	-	-	C	rs140898828	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54675768_54675769insC	ENST00000376591.4	-	2	312_313	c.181_182insG	c.(181-183)gctfs	p.A61fs	TMC4_ENST00000301187.4_Frame_Shift_Ins_p.A55fs	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	61						integral to membrane		p.A55T(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCTCCAGCGCCCCCCAAGGC	0.653													7	367	---	---	---	---					
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)gggfs	p.G41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525													14	585	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													12	301	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000381898.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													10	353	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510													12	636	---	---	---	---					
PDYN	5173	broad.mit.edu	37	20	1963714	1963715	+	In_Frame_Ins	INS	-	-	AAC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1963714_1963715insAAC	ENST00000217305.2	-	3	241_242	c.16_17insGTT	c.(16-18)ggt>GTTggt	p.5_6insV	PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	5					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCAGGACCAGCCCCTGCCAG	0.564													194	104	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													9	141	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													35	410	---	---	---	---					
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)ggactgfs	p.L80fs	DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs|DUSP15_ENST00000398083.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.550													11	841	---	---	---	---					
CBFA2T2	9139	broad.mit.edu	37	20	32224504	32224505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:32224504_32224505insA	ENST00000346541.3	+	10	1851_1852	c.1314_1315insA	c.(1312-1317)tgaaaafs	p.*K438fs	CBFA2T2_ENST00000342704.5_Frame_Shift_Ins_p.*K429fs|CBFA2T2_ENST00000397800.1_Frame_Shift_Ins_p.*K409fs|CBFA2T2_ENST00000375279.2_Frame_Shift_Ins_p.*K438fs|CBFA2T2_ENST00000359606.3_Frame_Shift_Ins_p.*K448fs	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	438						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGGAGTTTTGGAAAAAAACAGG	0.446													7	280	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													11	853	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36718236	36718237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:36718236_36718237insC	ENST00000373433.4	+	7	1342_1343	c.940_941insC	c.(940-942)cccfs	p.P314fs	RPRD1B_ENST00000471511.1_3'UTR	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	314										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGGGGGCTTAGCCCCCCTGCCC	0.540													12	1397	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													15	212	---	---	---	---					
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1569)gccfs	p.A523fs	DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATCTTTGTGGTCCCCCCAAACC	0.455													7	873	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													22	312	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)cccfs	p.P346fs	PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574													17	171	---	---	---	---					
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccctcfs	p.L426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619													21	1511	---	---	---	---					
ARFGEF2	10564	broad.mit.edu	37	20	47587789	47587790	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:47587789_47587790insA	ENST00000371917.4	+	10	1323_1324	c.1323_1324insA	c.(1321-1326)tcaaaafs	p.SK441fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	441					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGCCTTGTCCAAAAACGGCGT	0.436													8	1538	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													8	87	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			22	936	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													20	266	---	---	---	---					
ETS2	2114	broad.mit.edu	37	21	40184981	40184981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:40184981delC	ENST00000360214.3	+	4	587	c.127delC	c.(127-129)tafs	p.L43fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403													9	509	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													11	307	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47685950	47685951	+	Frame_Shift_Ins	INS	-	-	G	rs139382919		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:47685950_47685951insG	ENST00000397708.1	-	12	3173_3174	c.2919_2920insC	c.(2917-2922)cctcccfs	p.P974fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	974					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACGAGGGACGGGGGGCAATG	0.589													9	223	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													10	461	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23974047	23974048	+	In_Frame_Ins	INS	-	-	CAG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:23974047_23974048insCAG	ENST00000317749.5	-	1	460_461	c.163_164insCTG	c.(163-165)ggg>CTGggg	p.54_55insL	C22orf43_ENST00000460169.1_5'UTR	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	54										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTCTTGGCCCTCCGTGGCTCCC	0.540													10	208	---	---	---	---					
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)cggfs	p.R81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495													11	1459	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													13	1021	---	---	---	---					
CRYBA4	1413	broad.mit.edu	37	22	27021497	27021498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:27021497_27021498insA	ENST00000354760.3	+	4	246_247	c.211_212insA	c.(211-213)aggfs	p.R71fs	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	71	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R71*(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CATTCTGGAACGAGGCGAATAT	0.624													139	343	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													18	1066	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:30415990_30415991insC	ENST00000333027.3	+	17	2670_2671	c.2342_2343insC	c.(2341-2343)gccfs	p.A781fs	MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554													11	279	---	---	---	---					
TBC1D10A	83874	broad.mit.edu	37	22	30691731	30691732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:30691731_30691732insC	ENST00000215790.7	-	4	682_683	c.518_519insG	c.(517-519)gcafs	p.A173fs	TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.A180fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.A85fs|RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.A47fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	173	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCACCCGTGGCCCCCCCGGGA	0.609													16	268	---	---	---	---					
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)gggfs	p.G96fs	SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663													9	279	---	---	---	---					
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)cccfs	p.P199fs	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604													11	120	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													12	769	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													20	403	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	133	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													27	488	---	---	---	---					
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1201-1206)ccggggfs	p.PG401fs	MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.PG381fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.PG401fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	401					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.460													9	730	---	---	---	---					
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccgfs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455													8	195	---	---	---	---					
ARSF	416	broad.mit.edu	37	X	3007554	3007555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:3007554_3007555insC	ENST00000381127.1	+	7	1069_1070	c.848_849insC	c.(847-849)tctfs	p.S283fs	ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	283						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGAAACTTTCCTTCTCTTTT	0.426													80	1551	---	---	---	---					
ZNF645	158506	broad.mit.edu	37	X	22291220	22291221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:22291220_22291221insG	ENST00000323684.1	+	1	156_157	c.112_113insG	c.(112-114)gggfs	p.G38fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	38						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTTACCGTTGGGGGGACATT	0.351													7	797	---	---	---	---					
USP11	8237	broad.mit.edu	37	X	47099225	47099227	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:47099225_47099227delTAC	ENST00000377107.2	+	4	808_810	c.454_456delTAC	c.(454-456)del	p.Y152del	USP11_ENST00000218348.3_In_Frame_Del_p.Y195del			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	195	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTCGAAGTGTACCCAGTAGAAC	0.502													16	420	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													20	1694	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50345633	50345634	+	Splice_Site	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:50345633_50345634insT	ENST00000376020.2	-	7	3966_3967	c.3942_splice	c.e7+1	p.N1314_splice	SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice|SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1314	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.450													8	781	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)ccagccfs	p.A631fs	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475													8	802	---	---	---	---					
DCX	1641	broad.mit.edu	37	X	110644444	110644445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:110644444_110644445insG	ENST00000338081.3	-	3	892_893	c.721_722insC	c.(721-723)gtcfs	p.V241fs	DCX_ENST00000488120.1_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356220.3_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.V160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Frame_Shift_Ins_p.V160fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	241					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTTC	0.510													10	570	---	---	---	---					
ZDHHC9	51114	broad.mit.edu	37	X	128945383	128945384	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:128945383_128945384insG	ENST00000357166.6	-	9	1270_1271	c.881_splice	c.e9+1	p.C294_splice	ZDHHC9_ENST00000371064.3_Splice_Site_p.C294_splice	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	294						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTGAGCACCTGGGGGGCAAGG	0.525													7	259	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130411113	130411114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:130411113_130411114insG	ENST00000370904.1	-	20	3290_3291	c.2380_2381insC	c.(2380-2382)ccafs	p.P794fs	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.P808fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.P794fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.P803fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	803	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGAG	0.510													9	723	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121238716	121238723	+	Splice_Site	DEL	ACCTACTG	ACCTACTG	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121238716_121238723delACCTACTG	ENST00000264233.5	-	9	1591_1597	c.1468_splice	c.e9+1	p.488_splice		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	488	Helicase C-terminal.				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)		AAACTCACTTACCTACTGTGTCCACTCC	0.428								DNA polymerases (catalytic subunits)					21	499	---	---	---	---					
RPL34-AS1	285456	broad.mit.edu	37	4	109512924	109512925	+	RNA	INS	-	-	AG	rs60609975		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:109512924_109512925insAG	ENST00000507248.1	-	0	90					NR_026968.1																						aagaaagaaaaagagagagaga	0.351													3	3	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													2	4	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attcacfs	p.H1134fs	VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1134					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						ACATCTGTGACAATAATATTTT	0.322													30	150	---	---	---	---					
RP11-19N8.2	0	broad.mit.edu	37	16	33030488	33030489	+	RNA	INS	-	-	GAAG			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:33030488_33030489insGAAG	ENST00000567619.1	-	0	499																											aaggaaggaaagaaggaaggaa	0.426													5	1	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	118121	118121	+	RNA	DEL	T	T	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:118121delT	ENST00000576266.1	+	0	529																											GTTTGACTAATTTTTTTTTTA	0.214													6	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54841975	54841975	+	RNA	DEL	C	C	-	rs11318140		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54841975delC	ENST00000507363.1	-	0	430																											GAGCTTCCCTCtttttttttt	0.498													2	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46924414	46924422	+	In_Frame_Del	DEL	CCCGGCCCC	CCCGGCCCC	-	rs72301048		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:46924414_46924422delCCCGGCCCC	ENST00000359759.4	+	33	4078_4086	c.4057_4065delCCCGGCCCC	c.(4057-4065)del	p.PGP1362del	COL18A1_ENST00000355480.5_In_Frame_Del_p.PGP1127del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PGP947del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1362	Triple-helical region 9 (COL9).			Missing (in Ref. 1; AAC39658/AAC39659, 2; AAR83296/AAR83297/AAR83298, 4; AAH33715/ AAH63833 and 5; AAA51864).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCAGCCTgcccggcccccccggccccc	0.699													5	7	---	---	---	---					
SLC2A5	6518	broad.mit.edu	37	1	9101933	9101934	+	Frame_Shift_Ins	INS	-	-	C	rs148745114	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:9101933_9101934insC	ENST00000377424.4	-	5	660_661	c.481_482insG	c.(481-483)tctfs	p.S161fs	SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	161					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCGAGAGCCCCCCGCAGG	0.530													8	297	---	---	---	---					
FBLIM1	54751	broad.mit.edu	37	1	16091532	16091533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:16091532_16091533insC	ENST00000375766.3	+	3	694_695	c.54_55insC	c.(52-57)gcccccfs	p.AP18fs	FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	18	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCACCCTGGCACCCCCGCGCCG	0.653													8	854	---	---	---	---					
LOC100129138	100129138	broad.mit.edu	37	1	104615945	104615946	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:104615945_104615946insC	ENST00000418362.1	+	0	301_302					NR_033990.1																						GCTTGAGAAGGCCCCCCGACAA	0.559													2	4	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:144854629delC	ENST00000369359.4	-	45	7287	c.7249delG	c.(7249-7251)aafs	p.E2417fs	PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2281					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488			T	PDGFRB	MPD								8	320	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152329462	152329463	+	Frame_Shift_Ins	INS	-	-	AGCTG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152329462_152329463insAGCTG	ENST00000388718.5	-	3	871_872	c.799_800insCAGCT	c.(799-801)ttcfs	p.F267fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	267	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACCTGAACAGCTAGACCCA	0.455													38	123	---	---	---	---					
CASQ1	844	broad.mit.edu	37	1	160168790	160168790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160168790delA	ENST00000368079.3	+	9	1188	c.913delA	c.(913-915)ctfs	p.T305fs	CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGATAACACTGAAAACCC	0.502													7	416	---	---	---	---					
ZBTB37	84614	broad.mit.edu	37	1	173839523	173839524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:173839523_173839524insC	ENST00000367704.1	+	3	559_560	c.160_161insC	c.(160-162)cccfs	p.P54fs	ZBTB37_ENST00000367701.4_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000432989.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000427304.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000367702.1_Frame_Shift_Ins_p.P54fs			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	54	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGCTGCCAGCTCCCCCTATTTC	0.485													7	1112	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183514220	183514221	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:183514220_183514221delCA	ENST00000367537.3	+	17	2287_2288	c.2092_2093delCA	c.(2092-2094)cfs	p.H698fs	SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	715	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAACAGTCCCACATTCCTTAC	0.545													45	633	---	---	---	---					
NBAS	51594	broad.mit.edu	37	2	15615948	15615949	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:15615948_15615949insTC	ENST00000281513.5	-	14	1228_1229	c.1203_1204insGA	c.(1201-1206)gtctttfs	p.F402fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	402										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						CGAGCTAAAGTCACTGCACTGT	0.391													13	30	---	---	---	---					
ABCG5	64240	broad.mit.edu	37	2	44055180	44055181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:44055180_44055181insC	ENST00000405322.1	-	4	1228_1229	c.332_333insG	c.(331-333)gatfs	p.D111fs	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	192	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGTGGAAATGCCCCCCAAGCT	0.589													10	325	---	---	---	---					
FSHR	2492	broad.mit.edu	37	2	49191001	49191002	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:49191001_49191002delGA	ENST00000406846.2	-	10	1077_1078	c.958_959delTC	c.(958-960)cfs	p.S321fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	321					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTGTAGCTGGACTCATTGTCT	0.441									Gonadal Dysgenesis, 46 XX				54	248	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74685769	74685770	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:74685769_74685770insG	ENST00000393972.3	+	1	243_244	c.40_41insG	c.(40-42)gggfs	p.G14fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CGAGGAGGCCTGGGGGGCACTT	0.634													8	207	---	---	---	---					
TMEM37	140738	broad.mit.edu	37	2	120194795	120194795	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:120194795delA	ENST00000306406.4	+	2	387	c.352delA	c.(352-354)aafs	p.K118fs	TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	118						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTGCGAGGACAAACACTCACA	0.617													8	174	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168102336	168102337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:168102336_168102337insG	ENST00000409195.1	+	9	4523_4524	c.4434_4435insG	c.(4432-4437)acaggafs	p.G1479fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1304					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACAGTCACTCAGGAAGATGT	0.371													11	254	---	---	---	---					
BHLHE40	8553	broad.mit.edu	37	3	5025346	5025347	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:5025346_5025347insC	ENST00000256495.3	+	5	1811_1812	c.1208_1209insC	c.(1207-1209)accfs	p.T403fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	403						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTGAAGCCAATCCCCCCTTTAA	0.485													7	917	---	---	---	---					
GALNT15	117248	broad.mit.edu	37	3	16254154	16254155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:16254154_16254155insC	ENST00000339732.5	+	6	1779_1780	c.1276_1277insC	c.(1276-1278)cccfs	p.P426fs	GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.S426F(1)									GGATTCCCATTCCCCCCTCGAC	0.550													7	830	---	---	---	---					
QARS	5859	broad.mit.edu	37	3	49137078	49137078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49137078delC	ENST00000306125.6	-	16	1728	c.1391delG	c.(1390-1392)ccfs	p.R464fs	QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTAGGAAGAGCGTCTGGGGTG	0.577													8	98	---	---	---	---					
MINA	84864	broad.mit.edu	37	3	97668725	97668726	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:97668725_97668726insG	ENST00000333396.6	-	7	1604_1605	c.1022_1023insC	c.(1021-1023)ctafs	p.L341fs	MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs|MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	341					ribosome biogenesis	cytoplasm|nucleolus		p.P340R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGCAGAGTAAGGGGGGAGTCT	0.510													7	773	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113376413	113376417	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:113376413_113376417delTTGAG	ENST00000316407.4	-	7	4522_4526	c.4112_4116delCTCAA	c.(4111-4116)afs	p.TQ1371fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1371					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACCATCATTTGAGTTTGGTCAGA	0.473													27	239	---	---	---	---					
HGD	3081	broad.mit.edu	37	3	120357337	120357338	+	Frame_Shift_Ins	INS	-	-	C	rs34214309		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:120357337_120357338insC	ENST00000283871.5	-	12	1429_1430	c.970_971insG	c.(970-972)tgcfs	p.C324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTATCAGCAACCCCCCATCGA	0.480													7	734	---	---	---	---					
ACPL2	92370	broad.mit.edu	37	3	140997216	140997217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:140997216_140997217insT	ENST00000508812.1	+	2	1992_1993	c.85_86insT	c.(85-87)aatfs	p.N29fs	ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|ACPL2_ENST00000502783.1_5'UTR|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	38						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCCTAAGAATGGAATGAGTAGC	0.564													9	224	---	---	---	---					
TRIM59	286827	broad.mit.edu	37	3	160156831	160156832	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:160156831_160156832insT	ENST00000543469.1	-	2	354_355	c.140_141insA	c.(139-141)tagfs	p.*47fs	TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	47						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTAAAGGTCTCCATATATAAAA	0.361													23	329	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													21	6	---	---	---	---					
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)ccaaaafs	p.PK272fs	UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396													8	433	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													3	5	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648518	41648519	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:41648518_41648519insGAGT	ENST00000313860.7	+	12	1327_1328	c.1273_1274insGAGT	c.(1273-1275)gctfs	p.A425fs	LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	425					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAGAGAGAGAGAGCTGCATGAA	0.465													39	549	---	---	---	---					
ZNF827	152485	broad.mit.edu	37	4	146686192	146686193	+	Frame_Shift_Ins	INS	-	-	G	rs151005596		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:146686192_146686193insG	ENST00000508784.1	-	13	3404_3405	c.3177_3178insC	c.(3175-3180)ccaacafs	p.T1060fs	ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs|ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1059P(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAGCTGTTCGGGGGTCTTCA	0.475													15	862	---	---	---	---					
PPID	5481	broad.mit.edu	37	4	159644421	159644422	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:159644421_159644422insG	ENST00000307720.3	-	1	126_127	c.19_20insC	c.(19-21)agcfs	p.S7fs		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	7					protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GGGCTTGGCTTGGGGGGACGGG	0.609													7	255	---	---	---	---					
WDR17	116966	broad.mit.edu	37	4	177046335	177046336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:177046335_177046336insA	ENST00000393643.2	+	5	871_872	c.619_620insA	c.(619-621)ggafs	p.G207fs	WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	231										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCCTTGGAATGGGACCCACTA	0.361													159	257	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													8	220	---	---	---	---					
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(868-873)caccccfs	p.HP290fs	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	290					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347													7	409	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	80074560	80074561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:80074560_80074561insA	ENST00000265081.6	+	17	2420_2421	c.2340_2341insA	c.(2338-2343)ttactcfs	p.L781fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	781					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGAGCCGCTTTCACTCTCCTTT	0.401								Mismatch excision repair (MMR)					11	129	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													19	572	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38783331	38783332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:38783331_38783332insG	ENST00000359357.3	+	24	3024_3025	c.2770_2771insG	c.(2770-2772)gggfs	p.G924fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.G924fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.G1141fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTGGCTCACTGGGGGCAACAG	0.490													10	916	---	---	---	---					
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)cccfs	p.P437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673													2	4	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2405969	2405970	+	Frame_Shift_Ins	INS	-	-	C	rs142377401	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:2405969_2405970insC	ENST00000360876.4	+	7	1231_1232	c.1175_1176insC	c.(1174-1176)accfs	p.T392fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	392	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGACCTTTAGCCCCCTGATGG	0.545													8	1446	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12662466	12662470	+	Frame_Shift_Del	DEL	ATGAT	ATGAT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:12662466_12662470delATGAT	ENST00000297029.5	+	5	808_812	c.707_711delATGAT	c.(706-711)gfs	p.DD236fs	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	236	Actin-severing (Potential).				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGAGGTGATGATGATGACATTATAG	0.400													67	360	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24881942	24881943	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:24881942_24881943insA	ENST00000313367.2	-	13	1807_1808	c.1356_1357insT	c.(1354-1359)ttatgcfs	p.LC452fs	OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.LC416fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.LC416fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	452					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTGAGCATCAAAAAACTCAG	0.401													7	919	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-792)tccfs	p.S264fs	EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264					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			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)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	305	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731912	73731913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:73731912_73731913insG	ENST00000223398.6	+	2	363_364	c.36_37insG	c.(34-39)cgggggfs	p.RG12fs	CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	12						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCGGCCGTGGGGGGAAGCA	0.658													9	855	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149152746	149152747	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:149152746_149152747insG	ENST00000247930.4	-	2	690_691	c.367_368insC	c.(367-369)ccafs	p.P123fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCCTGGTGGTGGGGGGAGTGG	0.619													7	405	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3267089	3267090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:3267089_3267090insG	ENST00000602557.1	-	14	2157_2158	c.1602_1603insC	c.(1600-1605)cccctafs	p.L535fs	CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000520002.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	535	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATAGGCGGGGATTCCAG	0.480													19	60	---	---	---	---					
PRSS55	203074	broad.mit.edu	37	8	10387069	10387070	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:10387069_10387070insG	ENST00000328655.3	+	2	247_248	c.207_208insG	c.(205-210)acggggfs	p.TG69fs	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	69	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCAGAATCACAGGGGGGATGGA	0.500													21	2840	---	---	---	---					
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)cccfs	p.P606fs	BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	606	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564													13	750	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)ggacgcfs	p.R362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629													9	523	---	---	---	---					
ZNF510	22869	broad.mit.edu	37	9	99521719	99521719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:99521719delA	ENST00000375231.1	-	6	2043	c.1393delT	c.(1393-1395)gtfs	p.C465fs	ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTTTCCACATTCATTACAT	0.373													7	231	---	---	---	---					
NTMT1	28989	broad.mit.edu	37	9	132395075	132395076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:132395075_132395076insG	ENST00000372486.1	+	2	442_443	c.93_94insG	c.(91-96)ctggggfs	p.LG31fs	NTMT1_ENST00000372481.3_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000459968.2_Frame_Shift_Ins_p.LG31fs					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		ACGGCATGCTTGGGGGGTATGG	0.550													23	797	---	---	---	---					
ZNF32	7580	broad.mit.edu	37	10	44139605	44139605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:44139605delG	ENST00000395797.1	-	3	903	c.715delC	c.(715-717)acfs	p.H239fs	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TCTCCTGTGTGGATTTTGCCA	0.547													7	31	---	---	---	---					
UBTD1	80019	broad.mit.edu	37	10	99330115	99330116	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:99330115_99330116insCT	ENST00000370664.3	+	3	855_856	c.519_520insCT	c.(517-522)catcaafs	p.Q174fs		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	174	Ubiquitin-like.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CAGTGGGGCAGCTCAAGAGGCA	0.678													14	13	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.530													9	500	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:124402882_124402883insC	ENST00000368909.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)cccfs	p.P2404fs	DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000338354.3_Frame_Shift_Ins_p.P2404fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644													8	45	---	---	---	---					
PIK3C2A	5286	broad.mit.edu	37	11	17190948	17190949	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:17190948_17190949insT	ENST00000265970.7	-	1	339_340	c.340_341insA	c.(340-342)accfs	p.T114fs	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	114	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAATACAGGTGTTTTTTTAGTC	0.406													7	743	---	---	---	---					
PRR5L	79899	broad.mit.edu	37	11	36484165	36484166	+	Frame_Shift_Ins	INS	-	-	C	rs143061946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:36484165_36484166insC	ENST00000378867.3	+	10	1341_1342	c.986_987insC	c.(985-987)tccfs	p.S329fs	PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	329										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACCCAGCTTCCCCCCGCCCC	0.673													7	311	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46900582	46900588	+	Splice_Site	DEL	TGTAGAC	TGTAGAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:46900582_46900588delTGTAGAC	ENST00000378623.1	-	22	3248_3254	c.3004_splice	c.e22-1	p.VST1002_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1002					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TAGCACATGGTGTAGACACTGGGTAGA	0.594													62	455	---	---	---	---					
SMTNL1	219537	broad.mit.edu	37	11	57308986	57308987	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:57308986_57308987insG	ENST00000457912.1	+	1	8_9	c.8_9insG	c.(7-9)cggfs	p.R3fs				E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	0										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCATGCTCCCGGGGGCAGTTG	0.525													10	1109	---	---	---	---					
STIP1	10963	broad.mit.edu	37	11	63965370	63965370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:63965370delA	ENST00000358794.5	+	8	1641	c.1088delA	c.(1087-1089)tcfs	p.Y363fs	STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs|STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	316					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGAAAAGTACAAGGATGCC	0.453													82	324	---	---	---	---					
RPS6KA4	8986	broad.mit.edu	37	11	64129350	64129351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:64129350_64129351insC	ENST00000528057.1	+	8	870_871	c.782_783insC	c.(781-783)tccfs	p.S261fs	RPS6KA4_ENST00000334205.4_Frame_Shift_Ins_p.S261fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Ins_p.S261fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCCCCTCCCTTCCCCCCTCGGA	0.693													8	360	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321993	66321994	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:66321993_66321994insC	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCTCCCACCTCCCCCCGACCC	0.530													14	608	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347													7	30	---	---	---	---					
LEPREL2	10536	broad.mit.edu	37	12	6946203	6946204	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:6946203_6946204insC	ENST00000251761.8	+	0	1546_1547				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTCCCCTCACACCCCCCATGAA	0.644													7	263	---	---	---	---					
ART4	420	broad.mit.edu	37	12	14993710	14993711	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:14993710_14993711insC	ENST00000228936.4	-	2	902_903	c.521_522insG	c.(520-522)aatfs	p.N174fs	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	174					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCTCCATGATGCTGTCTTTCCT	0.480													7	457	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20885883	20885884	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:20885883_20885884insG	ENST00000381552.1	+	10	1595_1596	c.1227_1228insG	c.(1225-1230)tcggggfs	p.SG409fs	SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	409					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAATATTCTCTGGGGGGATAGT	0.381													7	445	---	---	---	---					
SPRYD3	84926	broad.mit.edu	37	12	53468917	53468917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53468917delC	ENST00000301463.4	-	4	419	c.333delG	c.(331-333)tgfs	p.W111fs	SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	111	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTCAGGCAACCAGCCAGGCT	0.532													18	161	---	---	---	---					
ITGA5	3678	broad.mit.edu	37	12	54801454	54801454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:54801454delT	ENST00000293379.4	-	9	1146	c.885delA	c.(883-885)aafs	p.K295fs	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	295					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGGTTCCCTTTGGGCACAC	0.522													11	167	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56575340	56575341	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56575340_56575341insC	ENST00000394023.3	-	10	986_987	c.881_882insG	c.(880-882)gaafs	p.E294fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTTATAGTTTCCCCCCTTCTT	0.515													13	648	---	---	---	---					
GLS2	27165	broad.mit.edu	37	12	56867067	56867067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56867067delT	ENST00000311966.4	-	14	1672	c.1394delA	c.(1393-1395)acfs	p.N465fs		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	465					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGCCTCAGGTTGTCATAGTT	0.423													19	384	---	---	---	---					
NAB2	4665	broad.mit.edu	37	12	57485596	57485597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57485596_57485597insG	ENST00000300131.3	+	2	1150_1151	c.772_773insG	c.(772-774)gggfs	p.G258fs	NAB2_ENST00000342556.6_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Frame_Shift_Ins_p.G258fs	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	258				PR -> Q (in Ref. 6 and 7).	cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGCTTCCCAAGGGGGGATGCT	0.574													8	588	---	---	---	---					
RFX4	5992	broad.mit.edu	37	12	107126021	107126022	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:107126021_107126022delAG	ENST00000392842.1	+	14	1879_1880	c.1465_1466delAG	c.(1465-1467)cfs	p.S489fs	RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	489					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGGAGAAGGAAGCACTGGTAAG	0.431													40	453	---	---	---	---					
LRRC43	254050	broad.mit.edu	37	12	122670832	122670833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:122670832_122670833insC	ENST00000339777.4	+	3	535_536	c.507_508insC	c.(505-510)ctccccfs	p.LP169fs	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	169										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCACCAATCTGCCCCCCACACT	0.569													7	132	---	---	---	---					
CCDC62	84660	broad.mit.edu	37	12	123276590	123276591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:123276590_123276591insA	ENST00000253079.6	+	6	1038_1039	c.694_695insA	c.(694-696)aaafs	p.K232fs	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	232						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAGACGACAGAAAATAATGAG	0.381													9	998	---	---	---	---					
LINC00457	100874179	broad.mit.edu	37	13	35129895	35129896	+	RNA	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:35129895_35129896insA	ENST00000605909.1	+	0	170				RP11-266E6.3_ENST00000606365.1_lincRNA																							ggctgtgatactcgccctaaaa	0.470													8	4	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31590706	31590706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:31590706delC	ENST00000399332.1	-	28	5609	c.5121delG	c.(5119-5121)ctfs	p.L1707fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1707					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATGGGCGTCTCAGAATCTAAA	0.478													26	323	---	---	---	---					
CDKL1	8814	broad.mit.edu	37	14	50862468	50862468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:50862468delT	ENST00000216378.2	-	2	766	c.122delA	c.(121-123)gtfs	p.D42fs	CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	41	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GACAGGGTCATCTTCTGATTC	0.403													44	127	---	---	---	---					
DPF3	8110	broad.mit.edu	37	14	73159843	73159844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:73159843_73159844insC	ENST00000541685.1	-	7	694_695	c.682_683insG	c.(682-684)tgafs	p.*228fs	DPF3_ENST00000546183.1_Frame_Shift_Ins_p.*238fs|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Frame_Shift_Ins_p.*228fs	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	228					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTGAGCTTCATCCCCCTCCTCG	0.554													7	2139	---	---	---	---					
ZC3H14	79882	broad.mit.edu	37	14	89069237	89069238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:89069237_89069238insC	ENST00000251038.5	+	12	1805_1806	c.1580_1581insC	c.(1579-1581)accfs	p.T527fs	ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	527						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.470													18	756	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105416915	105416927	+	Frame_Shift_Del	DEL	CCATGCTGGACAG	CCATGCTGGACAG	-	rs71421895	by1000genomes	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:105416915_105416927delCCATGCTGGACAG	ENST00000333244.5	-	7	4980_4992	c.4861_4873delCTGTCCAGCATGG	c.(4861-4875)agfs	p.LSSME1621fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCCACCTCCATGCTGGACAGAGACATCTTC	0.606													8	85	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105417410	105417422	+	Frame_Shift_Del	DEL	CCACGCTGGGCAG	CCACGCTGGGCAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:105417410_105417422delCCACGCTGGGCAG	ENST00000333244.5	-	7	4485_4497	c.4366_4378delCTGCCCAGCGTGG	c.(4366-4380)agfs	p.LPSVE1456fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1456						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTCCACGCTGGGCAGAGAAACCTCC	0.577													13	59	---	---	---	---					
GANC	2595	broad.mit.edu	37	15	42614143	42614144	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42614143_42614144insGA	ENST00000318010.8	+	11	1458_1459	c.1218_1219insGA	c.(1216-1221)agacttfs	p.L407fs		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	407					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGGGCAAGAGGTACTTCACCTG	0.465													20	147	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attcacfs	p.H1134fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1134					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						ACATCTGTGACAATAATATTTT	0.322													8	38	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63131164	63131165	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:63131164_63131165insG	ENST00000561311.1	+	57	7714_7715	c.7484_7485insG	c.(7483-7485)gggfs	p.G2495fs	TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2495	I/LWEQ.				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						ACCAAGTTTGTGGGGGGCATTG	0.426													7	141	---	---	---	---					
ADCY9	115	broad.mit.edu	37	16	4016046	4016047	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:4016046_4016047delGA	ENST00000294016.3	-	11	4329_4330	c.3791_3792delTC	c.(3790-3792)gfs	p.V1264fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1264				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATCCACCTGGACGCGGATGTC	0.569													8	99	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5550143	5550144	+	RNA	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:5550143_5550144insT	ENST00000569895.1	+	0	343																											ccctccttccctccttcccttc	0.584													2	4	---	---	---	---					
CTD-2014E2.5	0	broad.mit.edu	37	16	31576130	31576131	+	RNA	DEL	TC	TC	-	rs143339797		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:31576130_31576131delTC	ENST00000565692.1	-	0	343																											TGAAAGGTGATCTCTCTCTCTC	0.515													6	6	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991948	72991949	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:72991948_72991949insC	ENST00000268489.5	-	2	2768_2769	c.2096_2097insG	c.(2095-2097)gtcfs	p.V699fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	699					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G699fs*125(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGACACAGGAGCCCCCCGGCTC	0.594													8	609	---	---	---	---					
CXCL16	58191	broad.mit.edu	37	17	4638739	4638740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:4638739_4638740insG	ENST00000293778.6	-	4	844_845	c.422_423insC	c.(421-423)catfs	p.H141fs	CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	122					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						CCTGAGAAATTGGGGGGCTGGT	0.550													8	590	---	---	---	---					
FAM83G	644815	broad.mit.edu	37	17	18881020	18881021	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:18881020_18881021insTC	ENST00000388995.6	-	5	2181_2182	c.1958_1959insGA	c.(1957-1959)catfs	p.H653fs	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	653										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCGGGTTATATGGGGGGCACT	0.644													7	5	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48683537	48683539	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:48683537_48683539delAAA	ENST00000416767.4	+	23	4603_4605	c.4575_4577delAAA	c.(4573-4578)gcg>gc	p.AK1525del	CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000503485.1_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	0					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCATGTCGCAAAGCCCAGTCCA	0.571													16	33	---	---	---	---					
CSHL1	1444	broad.mit.edu	37	17	61987865	61987866	+	Frame_Shift_Ins	INS	-	-	CCCA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:61987865_61987866insCCCA	ENST00000392824.4	-	2	490_491	c.429_430insTGGG	c.(427-432)atattcfs	p.F144fs	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGCAGGAATGAATACTTCTGT	0.505													145	157	---	---	---	---					
UBE2O	63893	broad.mit.edu	37	17	74394437	74394440	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:74394437_74394440delCACT	ENST00000319380.7	-	12	1985_1988	c.1921_1924delAGTG	c.(1921-1926)ttfs	p.SV641fs	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	641							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCGTAAACACTCACATCTTCC	0.534											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	290	---	---	---	---					
NARF	26502	broad.mit.edu	37	17	80442736	80442738	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:80442736_80442738delGCT	ENST00000390006.4	+	9	1178_1180	c.704_706delGCT	c.(703-708)aca>a	p.SS235del	NARF_ENST00000309794.10_In_Frame_Del_p.SS294del|NARF_ENST00000457415.3_In_Frame_Del_p.SS340del|NARF_ENST00000345415.7_In_Frame_Del_p.SS246del	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	294						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GATGGAGCCAGCTCAGACGGGCA	0.537													2215	155	---	---	---	---					
ZNF397	84307	broad.mit.edu	37	18	32823300	32823301	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:32823300_32823301insAG	ENST00000585800.1	+	3	1313_1314	c.599_600insAG	c.(598-600)cctfs	p.P200fs	ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron			Q8NF99	ZN397_HUMAN	zinc finger protein 397	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ACACTTAGGCCTCTGTTTTTGA	0.436													14	100	---	---	---	---					
EPG5	57724	broad.mit.edu	37	18	43460063	43460064	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:43460063_43460064delCA	ENST00000282041.5	-	32	5677_5678	c.5643_5644delTG	c.(5641-5646)tcatfs	p.SD1881fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1881					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGAGCATCAGAAGAGCTGG	0.554											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77	---	---	---	---					
ZNF554	115196	broad.mit.edu	37	19	2834106	2834107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2834106_2834107insG	ENST00000317243.5	+	5	1071_1072	c.873_874insG	c.(871-876)caggggfs	p.QG291fs	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTATTCAACACGGGGGGAAGAT	0.455													8	307	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15484753	15484754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:15484753_15484754insC	ENST00000269701.2	-	4	274_275	c.214_215insG	c.(214-216)cccfs	p.P72fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	72					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATGGCAGGGGCCCCGGCCGCC	0.634													9	159	---	---	---	---					
ARHGAP33	115703	broad.mit.edu	37	19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:36268609_36268610insG	ENST00000007510.4	+	2	213_214	c.69_70insG	c.(67-72)gcggggfs	p.AG23fs	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	23					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639													8	429	---	---	---	---					
ZNF780B	163131	broad.mit.edu	37	19	40540780	40540781	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40540780_40540781insAT	ENST00000434248.1	-	5	2050_2051	c.1985_1986insAT	c.(1984-1986)acafs	p.T662fs	ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGCATGAATACTCTGATG	0.386													10	512	---	---	---	---					
SHKBP1	92799	broad.mit.edu	37	19	41086321	41086322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:41086321_41086322insC	ENST00000291842.5	+	7	541_542	c.492_493insC	c.(490-495)atccccfs	p.IP164fs	SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	164						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAACACGATGCCCCCCAACCT	0.619													7	258	---	---	---	---					
ZNF432	9668	broad.mit.edu	37	19	52538164	52538165	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52538164_52538165insACAA	ENST00000594154.1	-	5	979_980	c.767_768insTTGT	c.(766-768)aagfs	p.K256fs	ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs			O94892	ZN432_HUMAN	zinc finger protein 432	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATTTCTCTCTTTTATGAATTCT	0.381													18	140	---	---	---	---					
ZNF600	162966	broad.mit.edu	37	19	53270328	53270329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:53270328_53270329insT	ENST00000338230.3	-	3	947_948	c.680_681insA	c.(679-681)tagfs	p.*227fs		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATACCTGACTGAAGGACTTTCC	0.421													8	683	---	---	---	---					
PDYN	5173	broad.mit.edu	37	20	1963714	1963715	+	In_Frame_Ins	INS	-	-	AAC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1963714_1963715insAAC	ENST00000217305.2	-	3	241_242	c.16_17insGTT	c.(16-18)ggt>GTTggt	p.5_6insV	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	5					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCAGGACCAGCCCCTGCCAG	0.564													194	104	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10620352	10620353	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:10620352_10620353insC	ENST00000254958.5	-	26	3965_3966	c.3450_3451insG	c.(3448-3453)agcacafs	p.ST1150fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.ST991fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1150					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GAATTGTGTGTCCTTATTTTAG	0.475									Alagille Syndrome				8	97	---	---	---	---					
ARFGEF2	10564	broad.mit.edu	37	20	47587789	47587790	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:47587789_47587790insA	ENST00000371917.4	+	10	1323_1324	c.1323_1324insA	c.(1321-1326)tcaaaafs	p.SK441fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	441					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGCCTTGTCCAAAAACGGCGT	0.436													8	1538	---	---	---	---					
ETS2	2114	broad.mit.edu	37	21	40184981	40184981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:40184981delC	ENST00000360214.3	+	4	587	c.127delC	c.(127-129)tafs	p.L43fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403													9	509	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23974047	23974048	+	In_Frame_Ins	INS	-	-	CAG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:23974047_23974048insCAG	ENST00000317749.5	-	1	460_461	c.163_164insCTG	c.(163-165)ggg>CTGggg	p.54_55insL	C22orf43_ENST00000460169.1_5'UTR	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	54										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTCTTGGCCCTCCGTGGCTCCC	0.540													10	208	---	---	---	---					
CRYBA4	1413	broad.mit.edu	37	22	27021497	27021498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:27021497_27021498insA	ENST00000354760.3	+	4	246_247	c.211_212insA	c.(211-213)aggfs	p.R71fs	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	71	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R71*(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CATTCTGGAACGAGGCGAATAT	0.624													139	343	---	---	---	---					
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)gggfs	p.G96fs	SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663													9	279	---	---	---	---					
PKDREJ	10343	broad.mit.edu	37	22	46655571	46655572	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:46655571_46655572insC	ENST00000253255.5	-	1	3647_3648	c.3648_3649insG	c.(3646-3651)ggatgtfs	p.C1217fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1217					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTATCACATGCCCCCGAAGAT	0.450													8	1711	---	---	---	---					
ARSF	416	broad.mit.edu	37	X	3007554	3007555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:3007554_3007555insC	ENST00000381127.1	+	7	1069_1070	c.848_849insC	c.(847-849)tctfs	p.S283fs	ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	283						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGAAACTTTCCTTCTCTTTT	0.426													80	1551	---	---	---	---					
USP11	8237	broad.mit.edu	37	X	47099225	47099227	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:47099225_47099227delTAC	ENST00000377107.2	+	4	808_810	c.454_456delTAC	c.(454-456)del	p.Y152del	USP11_ENST00000218348.3_In_Frame_Del_p.Y195del			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	195	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTCGAAGTGTACCCAGTAGAAC	0.502													16	420	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	69	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49725275	49725279	+	Frame_Shift_Del	DEL	GTGCT	GTGCT	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49725275_49725279delGTGCT	ENST00000449682.2	-	2	507_511	c.146_150delAGCAC	c.(145-150)cfs	p.QH49fs	MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	35	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATGTAGCAGGTGCTGTAGCTCTGT	0.610													8	93	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121238716	121238723	+	Splice_Site	DEL	ACCTACTG	ACCTACTG	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:121238716_121238723delACCTACTG	ENST00000264233.5	-	9	1591_1597	c.1468_splice	c.e9+1	p.488_splice		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	488	Helicase C-terminal.				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)		AAACTCACTTACCTACTGTGTCCACTCC	0.428								DNA polymerases (catalytic subunits)					21	499	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													8	40	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													12	30	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)tafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													8	363	---	---	---	---					
FLT4	2324	broad.mit.edu	37	5	180058747	180058748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:180058747_180058748insG	ENST00000261937.6	-	2	167_168	c.89_90insC	c.(88-90)cacfs	p.H30fs	FLT4_ENST00000502649.1_Frame_Shift_Ins_p.H30fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.H30fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	30	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P30fs*3(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCAT	0.634													8	91	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													2	4	---	---	---	---					
PNPLA8	50640	broad.mit.edu	37	7	108155503	108155504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:108155503_108155504insC	ENST00000426128.2	-	2	557_558	c.432_433insG	c.(430-435)tgtaaafs	p.CK144fs	PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.CK44fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000422087.1_Frame_Shift_Ins_p.CK144fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	144					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTGTTTTAACCAGCCACTAT	0.327													8	224	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													7	135	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104588	102104589	+	RNA	INS	-	-	A	rs143779882	by1000genomes	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102104588_102104589insA	ENST00000429420.1	-	0	103																											AACAAAATAATAAAAAATCACA	0.386													6	6	---	---	---	---					
TSSC2	650368	broad.mit.edu	37	11	3424761	3424761	+	RNA	DEL	A	A	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:3424761delA	ENST00000529482.1	+	0	845																											gtctgtcaggaaaaaaaaaaa	0.413													9	36	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	350	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													7	24	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attcacfs	p.H1134fs	VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1134					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						ACATCTGTGACAATAATATTTT	0.322													30	150	---	---	---	---					
FES	2242	broad.mit.edu	37	15	91436556	91436557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:91436556_91436557insC	ENST00000328850.3	+	16	2099_2100	c.1957_1958insC	c.(1957-1959)ccgfs	p.P653fs	FES_ENST00000394300.3_Frame_Shift_Ins_p.P595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.P512fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.P525fs|FES_ENST00000444422.2_Frame_Shift_Ins_p.P583fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.P525fs	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	653	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACGGAGGGGGCCCGCCTGCGG	0.673													10	57	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	4	---	---	---	---					
