Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSTF1	1477	broad.mit.edu	37	20	54974310	54974310	+	Silent	SNP	T	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:54974310T>A	uc002xxl.1	+	4	1133	c.933T>A	c.(931-933)tcT>tcA	p.S311S	CSTF1_uc002xxm.1_Silent_p.S311S|CSTF1_uc002xxn.1_Silent_p.S311S	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	311					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAGTTTGTTCTGCCATTTTTT	0.398000														62			50		0	0	0.014410	0	0
TMEM246	84302	broad.mit.edu	37	9	104238602	104238602	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:104238602T>C	uc004bbm.3	-	1	1095	c.773A>G	c.(772-774)gAg>gGg	p.E258G	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.E258G	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	258						integral to membrane											CCGCATGGGCTCTGGATTGAT	0.557000														71			57		0	0	0.014410	0	0
FHDC1	85462	broad.mit.edu	37	4	153884185	153884185	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:153884185C>T	uc003inf.2	+	6	1007	c.932C>T	c.(931-933)gCc>gTc	p.A311V		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	311	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGGGTATGCCGGCAATGCA	0.403000														144			4		0	0	0.009096	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605276	31605276	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:31605276G>A	uc003nvb.4	+	30	6636	c.6387G>A	c.(6385-6387)ggG>ggA	p.G2129G	PRRC2A_uc003nvc.4_Silent_p.G2129G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2129						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCGGACAGGGCCGCCACCTC	0.652000														83			67		0	0	0.014410	0	0
FOXF2	2295	broad.mit.edu	37	6	1390675	1390675	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:1390675C>G	uc003mtm.3	+	0	607	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	165					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GCCTAAGGGCCTCGGGCGGCC	0.682000														73			53		0	0	0.014410	0	0
SMCR8	140775	broad.mit.edu	37	17	18220177	18220177	+	Silent	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:18220177T>C	uc002gsy.4	+	0	1584	c.1074T>C	c.(1072-1074)gaT>gaC	p.D358D		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	358										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTCAGATTGATAGAGCACTTC	0.443000														98			41		0	0	0.036044	0	0
PRSS3	5646	broad.mit.edu	37	9	33797829	33797829	+	Missense_Mutation	SNP	G	A	A	rs138654302		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:33797829G>A	uc003ztj.4	+	2	425	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_uc003zti.4_Missense_Mutation_p.R82H|PRSS3_uc022bfu.1_Missense_Mutation_p.R61H|PRSS3_uc003ztl.4_Missense_Mutation_p.R68H	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	125	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577000														62			31		0	0	0.015359	0	0
WEE2	494551	broad.mit.edu	37	7	141408685	141408685	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:141408685A>T	uc003vwn.2	+	0	533	c.127A>T	c.(127-129)Aag>Tag	p.K43*	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	43					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AACCCCAGAGAAGGGTGAAGT	0.473000														114			165		0	0	0.014410	0	0
MRE11A	4361	broad.mit.edu	37	11	94224022	94224022	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:94224022A>C	uc009ywj.2	-	2	459	c.139T>G	c.(139-141)Tta>Gta	p.L47V	MRE11A_uc001peu.2_Missense_Mutation_p.L44V|MRE11A_uc001pev.2_Missense_Mutation_p.L44V			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	44					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GCAAGTCTTAAAATTTCATCG	0.333000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					79			55		0	0	0.014410	0	0
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:121822548G>A	uc003eet.3	+	2	382	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	85	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423000														238			4		0	0	0.009096	0	0
CCDC141	285025	broad.mit.edu	37	2	179701991	179701991	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:179701991G>A	uc002une.2	-	22	4073	c.3955C>T	c.(3955-3957)Cat>Tat	p.H1319Y	CCDC141_uc002unf.1_Missense_Mutation_p.H798Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	744							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCTGGATGTTCAGCACTG	0.493000														47			31		0	0	0.009535	0	0
DDX17	10521	broad.mit.edu	37	22	38881951	38881951	+	Missense_Mutation	SNP	A	G	G	rs144334639		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr22:38881951A>G	uc003avy.4	-	12	2288	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P	DDX17_uc003avw.4_Missense_Mutation_p.S181P|DDX17_uc003avx.4_Missense_Mutation_p.S727P	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	648					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CATTTACGTGAaggaggagga	0.463000														40			34		0	0	0.017118	0	0
CASC1	55259	broad.mit.edu	37	12	25308273	25308273	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:25308273A>G	uc001rgk.3	-	4	354	c.272T>C	c.(271-273)tTg>tCg	p.L91S	CASC1_uc001rgj.3_Missense_Mutation_p.L45S|CASC1_uc001rgm.4_Missense_Mutation_p.L149S|CASC1_uc001rgl.3_Missense_Mutation_p.L85S|CASC1_uc010sje.2_Missense_Mutation_p.L26S|CASC1_uc010sjf.2_5'UTR|CASC1_uc010sjg.1_Missense_Mutation_p.L85S|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	85										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCCTGTTTCAATTTCTCTGC	0.368000														37			23		0	0	0.018920	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545807	179545807	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:179545807C>T	uc003mlq.3	-	7	1264	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	RASGEF1C_uc003mlr.3_Missense_Mutation_p.A323T|RASGEF1C_uc003mlp.4_Missense_Mutation_p.A172T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	323	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAAACTTGGCCGTCCTCACT	0.617000														140			4		0	0	0.014758	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023596	18023596	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:18023596G>A	uc001ban.3	+	28	3720	c.3561G>A	c.(3559-3561)ctG>ctA	p.L1187L	ARHGEF10L_uc001bao.3_Silent_p.L1148L|ARHGEF10L_uc001bap.3_Silent_p.L1143L|ARHGEF10L_uc001baq.3_Silent_p.L948L|ARHGEF10L_uc010ocs.2_Silent_p.L960L|ARHGEF10L_uc001bar.3_Silent_p.L890L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.L211L	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1187					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGGCCCGCTGCTCTCCATGC	0.677000														10			11		0	0	0.010729	0	0
SRP19	6728	broad.mit.edu	37	5	112200371	112200371	+	Silent	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:112200371A>G	uc003kqc.3	+	3	432	c.243A>G	c.(241-243)agA>agG	p.R81R	SRP19_uc021yck.1_Missense_Mutation_p.E56G|SRP19_uc003kqb.2_Silent_p.R81R|SRP19_uc021ycl.1_Silent_p.R57R|SRP19_uc011cvu.2_Silent_p.R81R	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	81					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACAGAGGCAGAGTCCGGGTCC	0.408000														47			37		0	0	0.030466	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046400	24046400	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:24046400G>C	uc002rek.4	-	15	2155	c.1859C>G	c.(1858-1860)gCc>gGc	p.A620G	ATAD2B_uc002rei.4_Missense_Mutation_p.A620G|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	620							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAGGGCGGCTTCAGTGCA	0.468000														28			23		0	0	0.034045	0	0
STAG3	10734	broad.mit.edu	37	7	99800113	99800113	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:99800113T>C	uc003utx.1	+	24	2755	c.2600T>C	c.(2599-2601)cTa>cCa	p.L867P	STAG3_uc011kjk.1_Missense_Mutation_p.L809P|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.L91P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	867					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATAGAGCGGCTACACCAGCGG	0.512000														108			211		0	0	0.014410	0	0
RNF5	6048	broad.mit.edu	37	6	32147442	32147442	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:32147442G>A	uc003oaj.4	+	2	301	c.174G>A	c.(172-174)cgG>cgA	p.R58R	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	58					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						TGGAGACACGGCCAGAACGGC	0.542000														117			4		0	0	0.009096	0	0
CCIN	881	broad.mit.edu	37	9	36169599	36169599	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:36169599G>A	uc003zzb.4	+	0	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	34	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502000														77			8		0	0	0.004482	0	0
LRCH1	23143	broad.mit.edu	37	13	47269134	47269134	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr13:47269134G>A	uc001vbk.3	+	8	1463	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	LRCH1_uc010acp.2_Silent_p.S409S|LRCH1_uc001vbj.3_Silent_p.S409S|LRCH1_uc001vbl.4_Silent_p.S409S	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	409										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTCTCCATTCGGAATTTATGA	0.403000														81			68		0	0	0.014410	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179254	90179254	+	Silent	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:90179254T>C	uc001dnl.4	+	2	1367	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	375						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTATGCTTCATATGATAGATC	0.373000														56			30		0	0	0.034045	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99063764	99063764	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:99063764T>C	uc011kiw.2	-	0	61	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ATP5J2-PTCD1_uc003uqm.3_Missense_Mutation_p.M1V|ATP5J2-PTCD1_uc003uql.3_Missense_Mutation_p.M1V|ATP5J2-PTCD1_uc003uqo.3_Missense_Mutation_p.M1V|ATP5J2-PTCD1_uc003uqn.3_Missense_Mutation_p.M1V	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	1																	ACTGACGCCATTTTGGAGTCC	0.647000														127			3		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216138667	216138667	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:216138667A>G	uc001hku.1	-	36	7499	c.7112T>C	c.(7111-7113)gTa>gCa	p.V2371A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2371	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGGGTCTACATAGAATAT	0.348000										HNSCC(13;0.011)				147			4		0	0	0.021553	0	0
SPOPL	339745	broad.mit.edu	37	2	139318408	139318408	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:139318408G>A	uc002tvh.3	+	7	1148	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	250	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGACCCTGAAGTTTTTAAAGA	0.328000														50			49		0	0	0.014410	0	0
KAT6A	7994	broad.mit.edu	37	8	41794928	41794928	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr8:41794928C>A	uc010lxb.3	-	16	3742	c.3198G>T	c.(3196-3198)gaG>gaT	p.E1066D	KAT6A_uc010lxc.3_Missense_Mutation_p.E1066D|KAT6A_uc003xon.4_Missense_Mutation_p.E1066D	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1066					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTTCATCGATCTCAAACGTGG	0.433000														75			56		8.52529e-16	9.24573e-16	0.014410	1	0
COASY	80347	broad.mit.edu	37	17	40714934	40714934	+	Silent	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:40714934T>C	uc010cyj.3	+	2	583	c.381T>C	c.(379-381)ccT>ccC	p.P127P	COASY_uc002hzz.3_Silent_p.P98P|COASY_uc002iab.3_Intron|COASY_uc002iad.3_Silent_p.P98P|COASY_uc002iac.3_Silent_p.P98P|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	98					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTTTCTCCCTCCCCTGCCCA	0.557000														280			4		0	0	0.009096	0	0
NIT1	4817	broad.mit.edu	37	1	161090529	161090529	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:161090529G>C	uc001fxv.2	+	6	1063	c.958G>C	c.(958-960)Ggc>Cgc	p.G320R	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Intron|NIT1_uc010pka.2_Missense_Mutation_p.G305R|NIT1_uc001fxy.2_Missense_Mutation_p.G284R	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	320	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGACCTCTATGGCAATCTGGG	0.577000														41			22		0	0	0.024334	0	0
GADL1	339896	broad.mit.edu	37	3	30819676	30819676	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:30819676T>C	uc003cep.2	-	13	1434	c.1387A>G	c.(1387-1389)Aat>Gat	p.N463D		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	463					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTACCAAATTAAGTTTTGCC	0.368000														110			38		0	0	0.023175	0	0
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	G	G	rs10592950		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:170871040A>G	uc003qxu.3	+	2	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_uc011ehf.2_Silent_p.Q52Q|TBP_uc003qxt.3_Silent_p.Q72Q|TBP_uc011ehg.1_Silent_p.Q72Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(6)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567000														29			4		0	0	0.029380	0	0
ZNF416	55659	broad.mit.edu	37	19	58083765	58083765	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:58083765A>G	uc002qpf.3	-	3	1678	c.1507T>C	c.(1507-1509)Ttt>Ctt	p.F503L		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTTTGTCTAAAAAATTTCCCA	0.418000														68			52		0	0	0.014410	0	0
PSMC2	5701	broad.mit.edu	37	7	103002482	103002482	+	Silent	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:103002482G>T	uc003vbs.3	+	4	557	c.369G>T	c.(367-369)gtG>gtT	p.V123V	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011kln.2_Silent_p.V123V|PSMC2_uc011klo.2_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA.	123					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGTTTGTGGTGGACCTTAGTG	0.383000														96			47		7.77372e-23	8.73835e-23	0.014410	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34118752	34118752	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:34118752A>G	uc001mvh.1	+	16	2099	c.1910A>G	c.(1909-1911)gAt>gGt	p.D637G	CAPRIN1_uc001mvg.3_Missense_Mutation_p.D637G|CAPRIN1_uc001mvi.2_Missense_Mutation_p.D637G|CAPRIN1_uc001mvj.1_Missense_Mutation_p.D556G	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	637					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGAGGATATGATGGTTACCGC	0.368000														42			38		0	0	0.033182	0	0
WDR19	57728	broad.mit.edu	37	4	39196261	39196261	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:39196261C>G	uc003gtv.3	+	4	542	c.388C>G	c.(388-390)Cga>Gga	p.R130G	WDR19_uc010ifl.1_Intron|WDR19_uc003gtu.1_Missense_Mutation_p.R130G|WDR19_uc011byi.2_Intron	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	130					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TCAGACATCTCGAAAGATTCC	0.403000														22			4		0	0	0.014758	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188627	70188627	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:70188627A>G	uc002sfz.4	-	0	771	c.194T>C	c.(193-195)cTc>cCc	p.L65P		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	65					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AAACCCACAGAGCAGTGTCGG	0.657000														30			24		0	0	0.014323	0	0
SLC5A12	159963	broad.mit.edu	37	11	26720065	26720065	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:26720065A>G	uc001mra.2	-	6	1152	c.839T>C	c.(838-840)tTg>tCg	p.L280S	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.L280S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	280					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGACCCAGCAAGTTAAAATA	0.438000														18			33		0	0	0.010818	0	0
THNSL2	55258	broad.mit.edu	37	2	88478333	88478333	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:88478333G>A	uc002ssy.4	+	3	2294	c.603G>A	c.(601-603)ccG>ccA	p.P201P	THNSL2_uc002ssw.4_Silent_p.P201P|THNSL2_uc002sta.4_Silent_p.P43P|THNSL2_uc010fhe.3_Silent_p.P43P|THNSL2_uc021vkr.1_Silent_p.P201P	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	201					threonine biosynthetic process		threonine synthase activity	p.E200D(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCGATGAGCCGATCAAGACTG	0.562000														131			4		0	0	0.009096	0	0
JAG2	3714	broad.mit.edu	37	14	105621904	105621904	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:105621904C>T	uc001yqg.3	-	4	1187	c.783G>A	c.(781-783)gaG>gaA	p.E261E	JAG2_uc001yqh.3_Silent_p.E261E	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	261	EGF-like 1.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTCACCTGCACTCCCCAGGCA	0.632000														56			63		0	0	0.014410	0	0
ERC1	23085	broad.mit.edu	37	12	1219488	1219488	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:1219488G>A	uc001qjb.2	+	4	1533	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.S431N|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.S431N|ERC1_uc010sdv.1_Missense_Mutation_p.S207N|ERC1_uc009zdp.3_Missense_Mutation_p.S68N	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	431					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTGTATCGGAGCCATTCTAAA	0.353000														45			47		0	0	0.014410	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563850	140563850	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:140563850C>T	uc003liv.3	+	0	2871	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	572	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGCCCTGCACTGAGCTGG	0.701000														7			37		0	0	0.025465	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520712	33520712	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33520712C>T	uc002hjd.2	-	0	701	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	205						integral to membrane											CCAGAAGCCTCAGGGACAGCG	0.627000														60			145		0	0	0.014410	0	0
STK11	6794	broad.mit.edu	37	19	1220439	1220439	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:1220439A>T	uc002lrl.1	+	3	1647	c.532A>T	c.(532-534)Aag>Tag	p.K178*		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	178	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.K178fs*86(2)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACATCAAGCCGGGGAA	0.662000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				8			8		0	0	0.004482	0	0
BNC1	646	broad.mit.edu	37	15	83935687	83935687	+	Silent	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:83935687C>A	uc002bjt.1	-	2	424	c.336G>T	c.(334-336)ctG>ctT	p.L112L	BNC1_uc010uos.1_Silent_p.L100L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	112					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGAGCCGGTCCAGTAGGATTT	0.507000														62			68		4.83814e-26	5.51906e-26	0.014410	1	0
DOCK10	55619	broad.mit.edu	37	2	225670917	225670917	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:225670917T>C	uc010fwz.1	-	33	3979	c.3740A>G	c.(3739-3741)cAa>cGa	p.Q1247R	DOCK10_uc002vob.2_Missense_Mutation_p.Q1241R|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.Q110R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1247							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTCTGGCTTTGAAATCCTCC	0.363000														26			25		0	0	0.021523	0	0
RAB8B	51762	broad.mit.edu	37	15	63548782	63548782	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:63548782A>T	uc002alz.3	+	4	499	c.403A>T	c.(403-405)Aga>Tga	p.R135*	RAB8B_uc010uih.2_Nonsense_Mutation_p.R135*	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	Homo sapiens RAB8B, member RAS oncogene family (RAB8B), mRNA.	135					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GTCAAAAGAAAGAGGGGAGAA	0.343000														33			35		0	0	0.023175	0	0
PTCH1	5727	broad.mit.edu	37	9	98229471	98229471	+	Silent	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:98229471C>A	uc004avk.4	-	14	2675	c.2487G>T	c.(2485-2487)gtG>gtT	p.V829V	PTCH1_uc010mro.3_Silent_p.V678V|PTCH1_uc010mrp.3_Silent_p.V678V|PTCH1_uc010mrq.3_Silent_p.V678V|PTCH1_uc004avl.4_Silent_p.V678V|PTCH1_uc004avm.4_Silent_p.V828V|PTCH1_uc010mrr.3_Silent_p.V763V|LOC100507346_uc022bkm.1_Non-coding_Transcript	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	829			V -> M (in squamous cell carcinoma).		embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V829M(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACATACTTCACGTTACTGA	0.448000														81			56		3.73128e-16	4.10441e-16	0.014410	1	0
MTERFD3	80298	broad.mit.edu	37	12	107372204	107372204	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:107372204T>C	uc001tme.1	-	1	2108	c.289A>G	c.(289-291)Att>Gtt	p.I97V	MTERFD3_uc001tmf.1_Missense_Mutation_p.I97V|MTERFD3_uc001tmg.1_Missense_Mutation_p.I97V|MTERFD3_uc021rdh.1_Missense_Mutation_p.I97V|MTERFD3_uc001tmh.1_Missense_Mutation_p.I97V	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CGTTCCAAAATACTGGCTACA	0.418000														260			5		0	0	0.021553	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000														70			3		0	0	0.021553	0	0
IQCB1	9657	broad.mit.edu	37	3	121500645	121500645	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:121500645T>C	uc010hre.1	-	12	1570	c.1355A>G	c.(1354-1356)gAt>gGt	p.D452G	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.D319G	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	452					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGGCGTGCATCAGTGAGTTC	0.408000														93			130		0	0	0.014410	0	0
MUC6	4588	broad.mit.edu	37	11	1017455	1017455	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:1017455C>T	uc001lsw.2	-	30	5397	c.5346G>A	c.(5344-5346)gtG>gtA	p.V1782V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1782	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGTGGGCCACAGGGGTTC	0.582000														617			8		0	0	0.008291	0	0
SCGN	10590	broad.mit.edu	37	6	25670275	25670275	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:25670275G>T	uc003nfb.3	+	5	645	c.442G>T	c.(442-444)Gct>Tct	p.A148S	SCGN_uc010jpz.3_Missense_Mutation_p.R57S	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	148						extracellular region|transport vesicle membrane	calcium ion binding	p.A148S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CATTTCTGAGGCTAAACTGGA	0.463000														212			8		3.09899e-07	3.24656e-07	0.004482	1	0
DDX43	55510	broad.mit.edu	37	6	74119027	74119027	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:74119027G>A	uc003pgw.3	+	9	1580	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	412	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGATAATGAAGATTTTGTTAG	0.393000														81			76		0	0	0.014410	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555040	44555040	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr18:44555040A>T	uc010xdb.2	-	0	1410	c.1174T>A	c.(1174-1176)Tta>Ata	p.L392I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	392	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATCCTCCATAATTCATCTGTC	0.572000														369			29		0	0	0.027894	0	0
ARSJ	79642	broad.mit.edu	37	4	114823444	114823444	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:114823444C>T	uc003ibq.1	-	1	2674	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	ARSJ_uc010imu.1_Intron	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	596				STCHSGVTCG -> KPANLAR (in Ref. 2).		extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCACAAGTAACACCTGAATGG	0.363000														43			27		0	0	0.037714	0	0
OR10H5	284433	broad.mit.edu	37	19	15905531	15905531	+	Missense_Mutation	SNP	G	T	T	rs140544423	byFrequency	TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:15905531G>T	uc010xos.2	+	0	673	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCGTGGCCGCCATCTTGAA	0.577000														33			33		1.86633e-21	2.06774e-21	0.014410	1	0
AMD1	262	broad.mit.edu	37	6	111213404	111213404	+	Silent	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:111213404T>C	uc003puk.1	+	4	790	c.468T>C	c.(466-468)tgT>tgC	p.C156C	AMD1_uc011eay.1_Silent_p.C87C|AMD1_uc003pul.1_Silent_p.C8C|AMD1_uc011eaz.1_Silent_p.C127C|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	156					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	ATTCTGACTGTTGGTATGTTT	0.308000														135			142		0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762791	24762791	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:24762791G>C	uc001iru.4	+	5	1884	c.1481G>C	c.(1480-1482)gGc>gCc	p.G494A	KIAA1217_uc001irs.3_Missense_Mutation_p.G414A|KIAA1217_uc001irt.4_Missense_Mutation_p.G494A|KIAA1217_uc010qcy.2_Missense_Mutation_p.G494A|KIAA1217_uc010qcz.2_Missense_Mutation_p.G494A|KIAA1217_uc001irv.1_Missense_Mutation_p.G344A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G212A|KIAA1217_uc001irz.3_Missense_Mutation_p.G212A|KIAA1217_uc001irx.3_Missense_Mutation_p.G212A|KIAA1217_uc001iry.3_Missense_Mutation_p.G212A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	494					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGCCCACGGCCCCCCTCAC	0.577000														49			43		0	0	0.014410	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95668696	95668696	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:95668696C>T	uc003uoc.4	+	13	1800	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L	DYNC1I1_uc003uod.4_Missense_Mutation_p.S491L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S471L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S488L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S497L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	508					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTGTCACATCATCATTTGAC	0.448000														58			105		0	0	0.014410	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054709	106054709	+	Silent	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:106054709G>T	uc001yrt.3	-	1	73	c.42C>A	c.(40-42)gtC>gtA	p.V14V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		TCAGCGGGAAGACCTTGGGGC	0.642000														46			23		5.35356e-11	5.68585e-11	0.016522	1	0
ACOX2	8309	broad.mit.edu	37	3	58514651	58514651	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:58514651G>A	uc003dkl.3	-	8	1200	c.1025C>T	c.(1024-1026)aCa>aTa	p.T342I		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	342					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTGCTGTTGTGTCTGGTAGTC	0.507000														48			38		0	0	0.010771	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124155	103124155	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:103124155C>T	uc001phn.1	+	66	10349	c.10205C>T	c.(10204-10206)aCa>aTa	p.T3402I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.T3395I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3395	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTACTACAACAAGAAGTGGA	0.363000														65			29		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179430304	179430304	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:179430304C>T	uc021vsy.1	-	274	73076	c.72851G>A	c.(72850-72852)cGt>cAt	p.R24284H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17979H|TTN_uc021vta.1_Missense_Mutation_p.R17912H|TTN_uc021vtb.1_Missense_Mutation_p.R17787H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25211	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTGACACGGAACTGATA	0.418000														239			5		0	0	0.014758	0	0
CLDN12	9069	broad.mit.edu	37	7	90042218	90042218	+	Silent	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:90042218A>G	uc003ukp.3	+	4	864	c.228A>G	c.(226-228)tcA>tcG	p.S76S	CLDN12_uc003ukq.3_Silent_p.S76S|CLDN12_uc010leq.3_Silent_p.S76S|CLDN12_uc003uks.3_Silent_p.S76S|CLDN12_uc003ukr.3_Silent_p.S76S|CLDN12_uc022ahd.1_Silent_p.S76S	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	76					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTTGGTACTCATCAGTTGACC	0.552000														150			76		0	0	0.014410	0	0
SLC45A2	51151	broad.mit.edu	37	5	33982376	33982376	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:33982376T>C	uc003jid.3	-	1	619	c.527A>G	c.(526-528)aAg>aGg	p.K176R	SLC45A2_uc003jie.3_Missense_Mutation_p.K176R|SLC45A2_uc003jif.4_Missense_Mutation_p.K176R|SLC45A2_uc011coe.1_Missense_Mutation_p.K176R	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	176					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCCCTTCTCCTTGTCCTGATG	0.493000														41			20		0	0	0.010504	0	0
DLX5	1749	broad.mit.edu	37	7	96651541	96651541	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:96651541C>G	uc003uon.3	-	1	704	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	DLX5_uc011kim.1_Missense_Mutation_p.E166Q	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	166					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCGGCGCGTTCCGGCAAGGCG	0.542000														190			50		0	0	0.014410	0	0
DIP2B	57609	broad.mit.edu	37	12	51138542	51138542	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:51138542G>T	uc001rwv.3	+	37	4807	c.4651G>T	c.(4651-4653)Gga>Tga	p.G1551*	DIP2B_uc009zlt.3_Nonsense_Mutation_p.G981*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1551						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAACTCCAGAGGAGAGAAGCA	0.537000														33			44		1.8453e-21	2.05924e-21	0.010771	1	0
SERPINA3	12	broad.mit.edu	37	14	95081284	95081284	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:95081284A>G	uc001ydp.3	+	1	665	c.506A>G	c.(505-507)gAc>gGc	p.D169G	SERPINA3_uc001ydo.4_Missense_Mutation_p.D194G|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.D169G|SERPINA3_uc001yds.3_Missense_Mutation_p.D169G	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	169					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTTGCCACTGACTTTCAGGAC	0.502000														33			34		0	0	0.017118	0	0
CCDC157	550631	broad.mit.edu	37	22	30771620	30771620	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr22:30771620A>G	uc011aku.2	+	9	2485	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	CCDC157_uc011akv.2_Missense_Mutation_p.I609V|Em:AC004997.11_uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	609										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GCTGTCCAAAATCCGGGAAGT	0.612000														42			4		0	0	0.009096	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411738	79411738	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:79411738C>T	uc002kaf.2	+	6	2371	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	BAHCC1_uc002kae.2_Missense_Mutation_p.P52S	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	853	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CCCCGGCTTCCCCGCCTCCGT	0.711000														60			27		0	0	0.013726	0	0
ZNF416	55659	broad.mit.edu	37	19	58083736	58083736	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:58083736G>C	uc002qpf.3	-	3	1707	c.1536C>G	c.(1534-1536)caC>caG	p.H512Q		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAATTTTCTGGTGTTCAACGA	0.438000														64			57		0	0	0.014410	0	0
DPY19L2	283417	broad.mit.edu	37	12	63994135	63994135	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:63994135G>T	uc001srp.1	-	12	1491	c.1310C>A	c.(1309-1311)aCa>aAa	p.T437K	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	437					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CAAAATGATTGTTCCACACCA	0.313000														54			42		4.09106e-26	4.70167e-26	0.014410	1	0
GMPR	2766	broad.mit.edu	37	6	16254914	16254914	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:16254914T>A	uc003nbs.3	+	3	527	c.413T>A	c.(412-414)tTt>tAt	p.F138Y		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	138					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TCAGAACATTTTGTGGAATTC	0.443000														89			87		0	0	0.014410	0	0
STAT3	6774	broad.mit.edu	37	17	40475091	40475091	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:40475091G>A	uc002hzl.1	-	19	2059	c.1819C>T	c.(1819-1821)Ctg>Ttg	p.L607L	STAT3_uc002hzk.1_Silent_p.L607L|STAT3_uc002hzm.1_Silent_p.L607L|STAT3_uc010wgh.1_Silent_p.L509L|STAT3_uc002hzn.1_Silent_p.L607L	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	607	SH2.				JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATCTTAGCAGGAAGGTGCCT	0.547000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		315			4		0	0	0.009096	0	0
HERC1	8925	broad.mit.edu	37	15	63953965	63953965	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:63953965T>G	uc002amp.3	-	44	9305	c.9157A>C	c.(9157-9159)Aca>Cca	p.T3053P		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3053					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCAGAACTTGTTGACTTAGAT	0.448000														71			43		0	0	0.010771	0	0
ZNF676	163223	broad.mit.edu	37	19	22363129	22363129	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:22363129A>C	uc002nqs.1	-	2	1708	c.1390T>G	c.(1390-1392)Ttt>Gtt	p.F464V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTAGTAAAGCTTGAGGAC	0.413000														127			86		0	0	0.014410	0	0
USF1	7391	broad.mit.edu	37	1	161011449	161011449	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:161011449G>A	uc001fxi.3	-	5	659	c.464C>T	c.(463-465)cCt>cTt	p.P155L	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.P96L	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	155					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCAGTGCCAGGAGGGGTCGC	0.582000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			23		0	0	0.014323	0	0
TMCO4	255104	broad.mit.edu	37	1	20063898	20063898	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:20063898A>G	uc001bcn.3	-	12	1473	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	TMCO4_uc001bco.1_Missense_Mutation_p.Y411H|TMCO4_uc001bcp.1_Missense_Mutation_p.Y371H	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	411						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGACAGAAGTAGATGACTCTG	0.512000														56			76		0	0	0.014410	0	0
GRK5	2869	broad.mit.edu	37	10	120967430	120967430	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:120967430A>T	uc001led.3	+	0	234	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	GRK5_uc009xzh.3_5'UTR|GRK5_uc010qta.1_5'Flank	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	1	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCGACTGTCAATGGAGCTGGA	0.716000														12			15		0	0	0.024245	0	0
HERC4	26091	broad.mit.edu	37	10	69714847	69714847	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:69714847A>G	uc001jng.4	-	18	2401	c.2090T>C	c.(2089-2091)cTt>cCt	p.L697P	HERC4_uc009xpq.3_Missense_Mutation_p.L230P|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.L689P|HERC4_uc009xpr.3_Missense_Mutation_p.L697P|HERC4_uc001jni.4_Missense_Mutation_p.L433P	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	697					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGAAAAAGAGAGGAGAC	0.393000														56			25		0	0	0.018920	0	0
HSPA8	3312	broad.mit.edu	37	11	122930940	122930940	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:122930940A>G	uc001pyo.3	-	3	583	c.448T>C	c.(448-450)Ttt>Ctt	p.F150L	HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Missense_Mutation_p.F150L|HSPA8_uc010rzu.2_Missense_Mutation_p.F73L|HSPA8_uc009zbd.2_Missense_Mutation_p.F150L|HSPA8_uc010rzv.1_Missense_Mutation_p.F150L	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	150					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAGTCATTAAAGTAAGCTGGC	0.403000														55			43		0	0	0.010771	0	0
AXDND1	126859	broad.mit.edu	37	1	179503894	179503894	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:179503894A>T	uc001gmo.3	+	24	3215	c.2828A>T	c.(2827-2829)gAg>gTg	p.E943V	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E827V|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	943	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACAGGCAGAGGAGAAGTTT	0.338000														64			41		0	0	0.010771	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760174	102760174	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:102760174T>C	uc011klj.1	-	2	1089	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	NAPEPLD_uc003vbd.2_Missense_Mutation_p.K264R|NAPEPLD_uc003vbc.2_Missense_Mutation_p.K264R|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	264					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATAGCACCTTGTTGTCATC	0.468000														165			4		0	0	0.009096	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999957	112999957	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:112999957C>G	uc001ebx.3	+	5	2071	c.1843C>G	c.(1843-1845)Ctt>Gtt	p.L615V	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	615						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAGAAGACCTTGCCAGCAG	0.517000														57			43		0	0	0.010771	0	0
PIGU	128869	broad.mit.edu	37	20	33163023	33163023	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:33163023C>T	uc002xas.3	-	10	1279	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	PIGU_uc010zul.2_Missense_Mutation_p.C360Y|PIGU_uc002xat.3_Missense_Mutation_p.C340Y	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	360					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GATGATGATGCAGGTGAGGAC	0.512000														27			17		0	0	0.033300	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350343	134350343	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:134350343C>A	uc003qem.1	-	1	791	c.620G>T	c.(619-621)gGa>gTa	p.G207V		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	207						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTGCAAAACTCCCAAGGGAAT	0.428000														110			8		5.4927e-09	5.79367e-09	0.004482	1	0
BTBD8	284697	broad.mit.edu	37	1	92612759	92612759	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:92612759C>G	uc001doo.3	+	7	1220	c.953C>G	c.(952-954)tCt>tGt	p.S318C	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	318						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ACATTGACGTCTATACTAGAA	0.323000														71			54		0	0	0.014410	0	0
SETD2	29072	broad.mit.edu	37	3	47158197	47158197	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:47158197C>G	uc003cqv.3	-	3	4555	c.4469G>C	c.(4468-4470)tGt>tCt	p.C1490S	SETD2_uc003cqs.3_Missense_Mutation_p.C1501S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1501					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)		AAGAGGTGTACACTCACACTG	0.318000			"""N, F, S, Mis"""		clear cell renal carcinoma									72			98		0	0	0.014410	0	0
COCH	1690	broad.mit.edu	37	14	31348144	31348144	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:31348144G>T	uc001wqr.2	+	4	447	c.367G>T	c.(367-369)Gta>Tta	p.V123L	COCH_uc001wqp.2_Missense_Mutation_p.V123L|COCH_uc001wqq.4_Missense_Mutation_p.V123L|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	123					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCTTTCACAGTAACTAGTAG	0.403000														72			61		1.85135e-42	2.1764e-42	0.014410	1	0
CCDC19	25790	broad.mit.edu	37	1	159846354	159846354	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:159846354C>A	uc001fui.3	-	9	1362	c.1344G>T	c.(1342-1344)agG>agT	p.R448S	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R363S|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	448						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCGAAGAATCCTCTCGAACT	0.527000														13			14		0.00244969	0.00251502	0.020292	1	0
ZFHX3	463	broad.mit.edu	37	16	72992086	72992086	+	Silent	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr16:72992086G>C	uc002fck.3	-	1	2632	c.1959C>G	c.(1957-1959)cgC>cgG	p.R653R	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	653					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)				CGCCCAGCGAGCGGGAGGAGC	0.622000														80			4		0	0	0.009096	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411728	79411728	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:79411728C>T	uc002kaf.2	+	6	2361	c.2361C>T	c.(2359-2361)ccC>ccT	p.P787P	BAHCC1_uc002kae.2_Silent_p.P48P	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	849							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			AGAACCTGCCCCCCGGCTTCC	0.701000														66			29		0	0	0.019004	0	0
IL10RA	3587	broad.mit.edu	37	11	117869597	117869597	+	Silent	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:117869597A>T	uc001prv.3	+	6	1055	c.978A>T	c.(976-978)ccA>ccT	p.P326P	IL10RA_uc010rxl.2_Silent_p.P306P|IL10RA_uc010rxm.2_Silent_p.P306P|IL10RA_uc010rxn.2_Silent_p.P177P|IL10RA_uc001prw.3_Silent_p.P177P	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	326						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCACCAAGCCATCCCTGCAGA	0.612000														38			26		0	0	0.024334	0	0
DDX1	1653	broad.mit.edu	37	2	15735617	15735617	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:15735617C>T	uc002rce.3	+	2	360	c.72C>T	c.(70-72)ctC>ctT	p.L24L	DDX1_uc010yjq.1_Intron|DDX1_uc021vee.1_Intron	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	24	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CTTTTAGCCTCCCAACTGATA	0.368000														87			6		0	0	0.029380	0	0
CCAR1	55749	broad.mit.edu	37	10	70513756	70513756	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:70513756G>A	uc001joo.3	+	10	1385	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.M227I|CCAR1_uc009xpx.1_Missense_Mutation_p.M396I|CCAR1_uc001jon.1_Missense_Mutation_p.M368I|CCAR1_uc010qiz.1_Missense_Mutation_p.M407I|CCAR1_uc010qja.1_Missense_Mutation_p.M407I|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	422					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTATGTAATGCACAGAGAAG	0.378000														83			76		0	0	0.014410	0	0
CAPN9	10753	broad.mit.edu	37	1	230907780	230907780	+	Silent	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:230907780A>G	uc001htz.1	+	6	923	c.810A>G	c.(808-810)agA>agG	p.R270R	CAPN9_uc009xfg.1_Silent_p.R207R|CAPN9_uc001hua.1_Silent_p.R270R	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	270	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAGGCCAGAGAATCGAGCTCA	0.537000														59			44		0	0	0.014410	0	0
PRRC2C	23215	broad.mit.edu	37	1	171553267	171553267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:171553267C>T	uc010pmg.2	+	28	7842	c.7576C>T	c.(7576-7578)Caa>Taa	p.Q2526*	PRRC2C_uc010pmh.2_Nonsense_Mutation_p.Q1438*|PRRC2C_uc010pmi.2_Nonsense_Mutation_p.Q363*|PRRC2C_uc010pmj.2_Nonsense_Mutation_p.Q53*	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2526	Gln-rich.						protein C-terminus binding										GTATGAACATCAACTGGGGCA	0.478000														150			125		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9066838	9066838	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:9066838T>C	uc002mkp.3	-	2	20812	c.20608A>G	c.(20608-20610)Aca>Gca	p.T6870A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6872	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						TCTTCATCTGTTGTCAGTATC	0.493000														156			4		0	0	0.009096	0	0
TBX10	347853	broad.mit.edu	37	11	67400113	67400113	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:67400113G>A	uc001omp.3	-	5	822	c.734C>T	c.(733-735)cCt>cTt	p.P245L	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	245					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTTGGCAAAAGGGTTGCTGGC	0.592000														163			8		0	0	0.003080	0	0
RBM24	221662	broad.mit.edu	37	6	17292212	17292212	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:17292212G>A	uc003nbz.4	+	3	577	c.573G>A	c.(571-573)ggG>ggA	p.G191G	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Silent_p.G133G|RBM24_uc003nca.3_Silent_p.G146G|RBM24_uc011diy.2_Missense_Mutation_p.G105E|RBM24_uc011diz.2_Missense_Mutation_p.G90E	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	191	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TTACTGCTGGGGGCTATGGCT	0.642000														17			8		0	0	0.006214	0	0
POLR3A	11128	broad.mit.edu	37	10	79745045	79745045	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:79745045C>T	uc001jzn.3	-	23	3258	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1042					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGGCTCACCAATGCTCTG	0.537000														106			65		0	0	0.014410	0	0
C14orf105	55195	broad.mit.edu	37	14	57938247	57938247	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:57938247T>G	uc010trl.1	-	6	980	c.837A>C	c.(835-837)aaA>aaC	p.K279N	C14orf105_uc001xcy.2_Missense_Mutation_p.K239N|C14orf105_uc010trm.1_Missense_Mutation_p.K150N|C14orf105_uc010trn.1_Missense_Mutation_p.K150N|C14orf105_uc001xcz.2_Missense_Mutation_p.K238N	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	239								p.V279V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTTTGCCAATTTTCCAGGGAC	0.393000														24			24		0	0	0.018920	0	0
KDM6B	23135	broad.mit.edu	37	17	7755520	7755520	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:7755520A>G	uc002gix.3	+	8	3077	c.2240A>G	c.(2239-2241)tAt>tGt	p.Y747C	KDM6B_uc002giw.1_Missense_Mutation_p.Y1445C|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1445	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GATGATCTCTATGCATCCAAT	0.632000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			4		0	0	0.009096	0	0
PKHD1	5314	broad.mit.edu	37	6	51923120	51923120	+	Splice_Site	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:51923120C>A	uc003pah.1	-	16	1788	c.1512_splice	c.e16+1	p.Q504_splice	PKHD1_uc003pai.3_Splice_Site_p.Q504_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	504					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGACACAGACCTGTACTTCT	0.542000														68			43		4.29476e-34	5.01055e-34	0.014410	1	0
SYDE2	84144	broad.mit.edu	37	1	85656155	85656155	+	Silent	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:85656155T>C	uc009wcm.3	-	1	1075	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V	SYDE2_uc001dku.4_Silent_p.V342V	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	342					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TAGCGTTACATACCACATATG	0.353000														34			34		0	0	0.012213	0	0
ZNF830	91603	broad.mit.edu	37	17	33289325	33289325	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33289325C>G	uc002hih.4	+	0	777	c.740C>G	c.(739-741)cCg>cGg	p.P247R	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	247					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GAAGCGTTACCGGAAGGTTTT	0.463000														34			48		0	0	0.014410	0	0
CST5	1473	broad.mit.edu	37	20	23856851	23856851	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:23856851G>T	uc002wtr.1	-	2	470	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	135						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TTGTAGTTCAGAATGGAAATT	0.498000														91			4		0.00909568	0.00927639	0.009096	1	0
LIG3	3980	broad.mit.edu	37	17	33310454	33310454	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33310454T>C	uc002hik.2	+	1	559	c.430T>C	c.(430-432)Ttt>Ctt	p.F144L	LIG3_uc002hii.3_Missense_Mutation_p.F144L|LIG3_uc002hij.3_Missense_Mutation_p.F144L|LIG3_uc010cth.1_Missense_Mutation_p.F153L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	144					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|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)	TAAATGCATGTTTGAGAAACT	0.488000								Other BER factors						18			37		0	0	0.021022	0	0
MUC4	4585	broad.mit.edu	37	3	195508343	195508343	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:195508343A>T	uc021xjp.1	-	1	10264	c.10108T>A	c.(10108-10110)Tcc>Acc	p.S3370T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACCTGTGGAAGCTGAGGAA	0.587000														8			3		0	0	0.009096	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671714	39671714	+	Silent	SNP	C	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr21:39671714C>T	uc021wjc.1	+	0	531	c.531C>T	c.(529-531)acC>acT	p.T177T	KCNJ15_uc002ywv.3_Silent_p.T177T|KCNJ15_uc002yww.3_Silent_p.T177T|KCNJ15_uc002ywx.3_Silent_p.T177T	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	177					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGGCTGAGACCATCAAGTTCA	0.507000														35			25		0	0	0.016522	0	0
HS2ST1	9653	broad.mit.edu	37	1	87569257	87569257	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:87569257G>A	uc010osk.2	+	5	1214	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	HS2ST1_uc001dme.2_Missense_Mutation_p.E238K	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	277						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		GGGTGCTACTGAACTCTATCG	0.363000														111			85		0	0	0.014410	0	0
NDUFS1	4719	broad.mit.edu	37	2	207009665	207009665	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:207009665G>A	uc010ziq.2	-	8	926	c.865C>T	c.(865-867)Cca>Tca	p.P289S	NDUFS1_uc002vbe.3_Missense_Mutation_p.P275S|NDUFS1_uc010zir.2_Missense_Mutation_p.P239S|NDUFS1_uc010zis.2_Missense_Mutation_p.P218S|NDUFS1_uc010zit.2_Missense_Mutation_p.P164S|NDUFS1_uc010ziu.2_Missense_Mutation_p.P159S	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	275					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TGCATACGTGGCAAAATCCTC	0.358000														102			4		0	0	0.009096	0	0
USP19	10869	broad.mit.edu	37	3	49149414	49149414	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:49149414A>G	uc003cwd.2	-	18	2843	c.2524T>C	c.(2524-2526)Ttc>Ctc	p.F842L	USP19_uc003cwa.3_Missense_Mutation_p.F650L|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.F945L|USP19_uc011bcg.2_Missense_Mutation_p.F933L|USP19_uc003cwc.2_Missense_Mutation_p.F600L|USP19_uc011bch.2_Missense_Mutation_p.F943L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	842					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGACCAGGAAGGGGTAGCCA	0.587000														46			30		0	0	0.015359	0	0
C5	727	broad.mit.edu	37	9	123742457	123742457	+	Silent	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:123742457A>G	uc004bkv.3	-	27	3592	c.3562T>C	c.(3562-3564)Ttg>Ctg	p.L1188L		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1188					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GAAATGGCCAATGTAAAGGTG	0.413000														54			37		0	0	0.019004	0	0
AK300387	0	broad.mit.edu	37	16	32190787	32190787	+	RNA	SNP	T	C	C	rs143291668	by1000genomes	TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr16:32190787T>C	uc010vfv.1	-	6		c.1037A>G								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TGACAACAACTGCCGTTTGTT	0.522000														26			5		0	0	0.021553	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102503901	102503901	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:102503901A>G	uc003kod.4	+	18	2707	c.2188A>G	c.(2188-2190)Ata>Gta	p.I730V	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.I730V|PPIP5K2_uc003kof.3_Missense_Mutation_p.I31V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	730					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATATGACTGTATAAAATATGA	0.333000														117			107		0	0	0.014410	0	0
REM1	28954	broad.mit.edu	37	20	30064536	30064536	+	Silent	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:30064536G>A	uc002wwa.3	+	1	572	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	96					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCAGCTTGGCCAGCCTCT	0.582000														14			18		0	0	0.007413	0	0
SSH2	85464	broad.mit.edu	37	17	27959406	27959406	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:27959406C>G	uc002heo.1	-	14	2725	c.2725G>C	c.(2725-2727)Gca>Cca	p.A909P	SSH2_uc010wbh.1_Missense_Mutation_p.A936P	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	909					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCTAGGTCTGCC	0.488000														217			285		0	0	0.014410	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943748	26943748	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:26943748G>C	uc002hbu.3	-	34	6148	c.6045C>G	c.(6043-6045)atC>atG	p.I2015M	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Non-coding_Transcript|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2015						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)					GTGTCAGCTGGATGGTGAGAG	0.418000														50			87		0	0	0.014410	0	0
KLF6	1316	broad.mit.edu	37	10	3823844	3823844	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:3823844C>A	uc001iha.3	-	1	932	c.665G>T	c.(664-666)cGg>cTg	p.R222L	KLF6_uc010qaj.2_Missense_Mutation_p.R222L|KLF6_uc010qak.2_Intron|KLF6_uc010qal.2_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.R222L	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	222					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGTGTGCGTCCGCTGGTGTGC	0.677000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			15		4.75885e-15	5.12491e-15	0.033300	1	0
EPS15L1	58513	broad.mit.edu	37	19	16513268	16513268	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:16513268T>C	uc002ndx.3	-	15	1661	c.1655A>G	c.(1654-1656)gAa>gGa	p.E552G	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.E442G|EPS15L1_uc002ndz.1_Missense_Mutation_p.E552G|EPS15L1_uc010xpf.1_Missense_Mutation_p.E455G|EPS15L1_uc002nea.1_Missense_Mutation_p.E552G|EPS15L1_uc010eah.1_Missense_Mutation_p.E552G|EPS15L1_uc002neb.1_Missense_Mutation_p.E398G|EPS15L1_uc002nec.1_Missense_Mutation_p.E552G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	552					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGGCGGCTTTCATGCAGCTG	0.537000														50			48		0	0	0.014410	0	0
C10orf140	387640	broad.mit.edu	37	10	21804183	21804183	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:21804183T>C	uc009xkd.3	-	3	4822	c.2569A>G	c.(2569-2571)Att>Gtt	p.I857V	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Missense_Mutation_p.I857V	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	776						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CTCCCAATAATGAGTGATGGT	0.438000														25			23		0	0	0.014323	0	0
C11orf82	220042	broad.mit.edu	37	11	82642927	82642927	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:82642927C>A	uc001ozt.3	+	5	791	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	183					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.Q183E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTACTTCCATCAACTTTTGCA	0.418000														131			77		3.27973e-32	3.79758e-32	0.014410	1	0
C2orf44	80304	broad.mit.edu	37	2	24262142	24262142	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:24262142C>A	uc002rep.2	-	1	354	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	C2orf44_uc010eya.2_Missense_Mutation_p.V75F	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	75							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAGTAGAACAGGTGTATCA	0.517000			T	ALK	NSCLC									31			26		8.24728e-16	9.00767e-16	0.024334	1	0
PLCD1	5333	broad.mit.edu	37	3	38061700	38061700	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:38061700G>A	uc003chm.3	-	1	595	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	PLCD1_uc003chn.3_Missense_Mutation_p.R60W	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	60	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R81W(1)|p.R60W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCCGGGGTCCGCATGACCTTG	0.582000														183			4		0	0	0.009096	0	0
TAL1	6886	broad.mit.edu	37	1	47685450	47685450	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:47685450G>T	uc001cqx.2	-	3	1515	c.938C>A	c.(937-939)aCg>aAg	p.T313K	TAL1_uc009vyq.2_Silent_p.R70R|TAL1_uc001cqy.2_Missense_Mutation_p.T313K	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	313					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTGCGGGCCGTGTGTTTGGG	0.687000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									31			27		9.78485e-24	1.10799e-23	0.013726	1	0
LOC646214	646214	broad.mit.edu	37	15	21937662	21937662	+	RNA	SNP	A	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:21937662A>G	uc010tzj.1	-	0		c.3078T>C								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTCCCTCGGCATTCAGTGCTG	0.507000														83			17		0	0	0.033300	0	0
BRD3	8019	broad.mit.edu	37	9	136915699	136915699	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:136915699C>G	uc004cew.3	-	4	699	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	BRD3_uc004cex.2_Missense_Mutation_p.V171L	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	171						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACGGCCGCCACTTGCTGTGTA	0.607000			T	C15orf55	lethal midline carcinoma of young people									23			28		0	0	0.009535	0	0
TDRD5	163589	broad.mit.edu	37	1	179609125	179609129	+	Frame_Shift_Del	DEL	GTGTT	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:179609125_179609129delGTGTT	uc010pnp.2	+	9	2190_2194	c.1672_1676delGTGTT	c.(1672-1677)gtgttcfs	p.V558fs	TDRD5_uc021pfm.1_Frame_Shift_Del_p.V558fs|TDRD5_uc001gnf.2_Frame_Shift_Del_p.V558fs|TDRD5_uc021pfn.1_Frame_Shift_Del_p.V558fs|TDRD5_uc001gnh.2_Frame_Shift_Del_p.V113fs	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	558	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGAAGTTGAAGTGTTCTACCCAGAC	0.395													---	197	---	---	75	---					
PGBD2	267002	broad.mit.edu	37	1	249211266	249211267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:249211266_249211267insA	uc001ifh.3	+	2	630_631	c.483_484insA	c.(481-486)accaatfs	p.T161fs	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Frame_Shift_Ins_p.T158fs|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	161								p.W162*(1)		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)			TTAATGAAACCAATCGTTATGC	0.376													---	141	---	---	105	---					
PKP4	8502	broad.mit.edu	37	2	159537000	159537001	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:159537000_159537001insT	uc002tzv.3	+	21	3650_3651	c.3390_3391insT	c.(3388-3393)agattgfs	p.R1130fs	PKP4_uc002tzw.3_Frame_Shift_Ins_p.R1087fs|PKP4_uc002tzx.3_Frame_Shift_Ins_p.R787fs|PKP4_uc002uaa.3_Frame_Shift_Ins_p.R939fs|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Frame_Shift_Ins_p.R311fs	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1130					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATGCATACAGATTGTATTTGCA	0.351										HNSCC(62;0.18)			---	84	---	---	88	---					
RAB28	9364	broad.mit.edu	37	4	13481115	13481115	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:13481115delA	uc003gmu.2	-	1	326	c.111delT	c.(109-111)tttfs	p.F37fs	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Frame_Shift_Del_p.F37fs|RAB28_uc011bwz.1_Frame_Shift_Del_p.F37fs	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	37					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACTGTTTCCCAAAAGTTTCTT	0.308													---	59	---	---	40	---					
PAIP1	10605	broad.mit.edu	37	5	43555937	43555937	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:43555937delA	uc003job.3	-	1	677	c.430delT	c.(430-432)tacfs	p.Y144fs	PAIP1_uc003joa.3_Frame_Shift_Del_p.Y65fs|PAIP1_uc003joc.3_Frame_Shift_Del_p.Y32fs	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	144					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity	p.S143R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTACTGTGTAACTGGAAGAA	0.403													---	188	---	---	121	---					
HAS2	3037	broad.mit.edu	37	8	122627047	122627047	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr8:122627047delC	uc003yph.2	-	3	1499	c.961delG	c.(961-963)gtgfs	p.V321fs		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	321						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGCTCAGCACCCGGTTCGTG	0.453													---	127	---	---	116	---					
FOLH1	2346	broad.mit.edu	37	11	49175458	49175458	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:49175458delT	uc001ngy.3	-	16	2171	c.1910delA	c.(1909-1911)aagfs	p.K637fs	FOLH1_uc001ngx.3_Frame_Shift_Del_p.K69fs|FOLH1_uc009yly.3_Frame_Shift_Del_p.K622fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.K622fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.K637fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.K329fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	637					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTAAAATTCTTTACTGCAGA	0.338													---	65	---	---	44	---					
PARP4	143	broad.mit.edu	37	13	25009395	25009395	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr13:25009395delG	uc001upl.3	-	30	3990	c.3884delC	c.(3883-3885)ccafs	p.P1295fs		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1295					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTGCTGTTGGTTTACATGA	0.428													---	75	---	---	54	---					
MFGE8	4240	broad.mit.edu	37	15	89449052	89449053	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:89449052_89449053insAA	uc002bng.4	-	4	733_734	c.620_621insTT	c.(619-621)ttgfs	p.L207fs	MFGE8_uc002bnf.4_Frame_Shift_Ins_p.L95fs|MFGE8_uc002bnh.4_Frame_Shift_Ins_p.L207fs|MFGE8_uc010bnn.3_Frame_Shift_Ins_p.L199fs|MFGE8_uc010upq.2_Frame_Shift_Ins_p.L163fs	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	207	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TCGTGGGGTACAATCTCACGTA	0.584													---	121	---	---	70	---					
LINS	55180	broad.mit.edu	37	15	101114203	101114205	+	In_Frame_Del	DEL	TGA	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:101114203_101114205delTGA	uc002bwg.3	-	4	1096_1098	c.873_875delTCA	c.(871-876)attcag>atg	p.291_292IQ>M	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_In_Frame_Del_p.172_173IQ>M|LINS_uc002bwi.3_In_Frame_Del_p.291_292IQ>M	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	291										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AACAAAAGCCTGAATAGGCCAGG	0.429													---	41	---	---	27	---					
NAGLU	4669	broad.mit.edu	37	17	40693013	40693014	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:40693013_40693014insTT	uc002hzv.3	+	4	1150_1151	c.810_811insTT	c.(808-813)cactttfs	p.H270fs		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	270						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GTTGGGGCCACTTTAACTGTTC	0.525													---	346	---	---	16	---					
TSHZ2	128553	broad.mit.edu	37	20	51871026	51871026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:51871026delT	uc002xwo.3	+	1	1916	c.1029delT	c.(1027-1029)tctfs	p.S343fs	TSHZ2_uc021wex.1_Frame_Shift_Del_p.S340fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	343					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCAGATTCTTTTTCTTCTC	0.493													---	118	---	---	105	---					
