Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGAP26	23092	broad.mit.edu	37	5	142281554	142281554	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr5:142281554G>A	uc011dbj.2	+	6	687	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	ARHGAP26_uc003lmt.3_Missense_Mutation_p.A218T|ARHGAP26_uc003lmw.3_Missense_Mutation_p.A218T	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	218					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGAACTGGCCAAGGATTT	0.443000													3	171					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122154607	122154607	+	Silent	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr5:122154607T>G	uc003kte.3	+	10	1150	c.1101T>G	c.(1099-1101)ctT>ctG	p.L367L	SNX2_uc011cwn.2_Silent_p.L250L	NM_003100	NP_003091	O60749	SNX2_HUMAN	Homo sapiens sorting nexin 2 (SNX2), mRNA.	367					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGTCTCAGCTTGCAGAGGTTG	0.393000													5	85					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995663	38995663	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:38995663T>C	uc002oit.3	+	51	8382	c.8252T>C	c.(8251-8253)cTg>cCg	p.L2751P	RYR1_uc002oiu.3_Missense_Mutation_p.L2751P|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2751	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.K2750K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGGAGAAGCTGGACTCCTTC	0.562000													3	127					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112096635	112096635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:112096635G>A	uc001tsn.4	-	8	1320	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	BRAP_uc010syh.2_Nonsense_Mutation_p.R197*|BRAP_uc009zvv.3_Nonsense_Mutation_p.R346*	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	376					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACCAGTCGATGAACATAG	0.353000													3	61					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85675021	85675021	+	Silent	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr4:85675021T>C	uc003hpd.3	-	34	5976	c.5568A>G	c.(5566-5568)caA>caG	p.Q1856Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1856						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTCTTCTGATTGCCAAGGCT	0.403000													32	92					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242664404	242664404	+	Splice_Site	SNP	G	G	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:242664404G>T	uc002wcd.3	+	8	706	c.681_splice	c.e8-1	p.W227_splice		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	227					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGTCACAGGTTCTGTCCAC	0.622000													4	81					0.184627	0.191341	1	1	0
ACP6	51205	broad.mit.edu	37	1	147142085	147142085	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr1:147142085A>C	uc001epr.2	-	0	550	c.86T>G	c.(85-87)gTg>gGg	p.V29G	ACP6_uc009wjj.1_Missense_Mutation_p.V29G	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	29					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGCCAGGGCCACCCGCCGCTG	0.657000													6	70					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106034465	106034465	+	Splice_Site	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chrX:106034465G>A	uc004eml.3	+	6	1403	c.1153_splice	c.e6+1	p.N385_splice	RNF128_uc004emk.3_Splice_Site_p.N359_splice	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	385						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAGTCAACAAGTAAGCATCAT	0.453000													25	85					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139417	160139417	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:160139417T>C	uc002uaj.4	-	1	313	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	WDSUB1_uc002uak.4_Missense_Mutation_p.Y55C|WDSUB1_uc002ual.4_Missense_Mutation_p.Y55C|WDSUB1_uc010foo.3_Missense_Mutation_p.Y55C	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	55						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTGGACAGCATAGGTATGAAA	0.443000													22	188					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710315	34710315	+	Silent	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:34710315T>G	uc002nvb.4	+	6	997	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_uc002nva.4_Silent_p.A267A|LSM14A_uc010xru.2_Silent_p.A226A|LSM14A_uc002nvc.4_Silent_p.A73A	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	267					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.A267A(4)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438000													3	72					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123476178	123476178	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr11:123476178C>T	uc001pyw.2	+	9	1236	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	GRAMD1B_uc001pyx.2_Missense_Mutation_p.P296S|GRAMD1B_uc010rzw.2_Missense_Mutation_p.P256S|GRAMD1B_uc010rzx.1_Missense_Mutation_p.P256S|GRAMD1B_uc009zbe.1_Missense_Mutation_p.P292S|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	296						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CAGTGAGGCCCCCGTCTCGGT	0.557000													32	81					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7878351	7878351	+	Silent	SNP	A	A	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr5:7878351A>C	uc003jed.3	+	4	807	c.777A>C	c.(775-777)gtA>gtC	p.V259V	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Silent_p.V232V|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	259	Hinge.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CCCGTTCGGTACCCCCACTCT	0.443000													5	63					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3494664	3494664	+	Silent	SNP	A	A	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr4:3494664A>C	uc003ghd.3	+	6	1021	c.951A>C	c.(949-951)ccA>ccC	p.P317P	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.H59P|DOK7_uc003ghg.1_Silent_p.P7P	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	317	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCAAGGCCACCCCCCAAGC	0.692000													7	70					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr17:4445773G>A	uc002fxz.4	-	21	3135	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_uc002fyb.4_Missense_Mutation_p.R1025W|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.R67W	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1025					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617000													3	67					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90967743	90967743	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr8:90967743T>C	uc003yej.1	-	9	1275	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V	NBN_uc011lgb.1_Missense_Mutation_p.M389V|NBN_uc003yei.1_Missense_Mutation_p.M307V	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	389					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTTGTTCCATTTTGGAGACT	0.338000								Homologous recombination					12	23					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73926211	73926211	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr8:73926211C>G	uc003xzd.2	+	1	426	c.401C>G	c.(400-402)gCa>gGa	p.A134G	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_Missense_Mutation_p.A134G	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	134	TRFH dimerization.				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGAATTGCAGCAGGAAAAACC	0.318000													5	172					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111757856	111757856	+	Silent	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:111757856C>T	uc001tsa.2	+	16	2197	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	681						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCATCGCCAACGGCACGACCC	0.711000													5	51					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107099230	107099230	+	RNA	SNP	G	G	A	rs2904629		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr14:107099230G>A	uc021ser.1	-	109		c.4844C>T								Parts of antibodies, mostly variable regions.																		ATGGTGAATCGGCCCTTCACA	0.502000													3	20					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102730843	102730843	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:102730843T>G	uc004bal.4	+	7	933	c.797T>G	c.(796-798)gTg>gGg	p.V266G	STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	266					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGTGGTGGGGTGTTGGGCTTC	0.517000													5	102					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986958	1986958	+	Silent	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:1986958G>A	uc002lup.1	-	7	1287	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	BTBD2_uc002luo.1_Silent_p.S108S	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	429						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGGTGTTGCTATCGGTGT	0.662000													3	71					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482130	100482130	+	Missense_Mutation	SNP	G	G	A	rs140745082		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr7:100482130G>A	uc003uwy.2	+	6	1166	c.899G>A	c.(898-900)cGc>cAc	p.R300H	SRRT_uc010lhl.1_Missense_Mutation_p.R300H|SRRT_uc003uxa.2_Missense_Mutation_p.R300H|SRRT_uc003uwz.2_Missense_Mutation_p.R300H	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	300	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.R300C(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACGGGGAGCGCAAAACCAAC	0.637000													4	151					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429440	128429440	+	Splice_Site	SNP	A	A	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr8:128429440A>T	uc003ysf.3	+	1	1585	c.1330_splice	c.e1+1		LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGGACACAGTaaaaaaaaaaa	0.313000													5	9					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65628245	65628245	+	Silent	SNP	A	A	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr15:65628245A>G	uc002aos.2	-	2	711	c.459T>C	c.(457-459)ggT>ggC	p.G153G		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	153	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCACACCACCCTCCTCAC	0.582000													3	130					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797720	185797720	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr3:185797720T>G	uc003fpy.3	-	6	727	c.662A>C	c.(661-663)cAt>cCt	p.H221P	ETV5_uc003fpz.3_Missense_Mutation_p.H179P	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	179					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGGAAGCGAATGGGGGGCGGG	0.617000			T	"""TMPRSS2, SCL45A3"""	Prostate								5	33					0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522060	6522060	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr1:6522060C>A	uc001anh.3	-	8	1034	c.946G>T	c.(946-948)Gct>Tct	p.A316S	TNFRSF25_uc001ana.3_Missense_Mutation_p.A124S|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.A80S|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.A307S|TNFRSF25_uc001anf.3_Missense_Mutation_p.A270S|TNFRSF25_uc001ang.3_Missense_Mutation_p.A262S	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	307					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCAAGAGCTCTGCTGGGC	0.607000													6	65					0.217242	0.221122	1	1	0
FREM1	158326	broad.mit.edu	37	9	14770686	14770686	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:14770686G>T	uc003zlm.3	-	26	5792	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Nonsense_Mutation_p.S195*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1659					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTCAGGGTCTGATGCCTTCAA	0.478000													3	140					0.150653	0.159023	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:58385748G>A	uc002qqo.2	-	2	1282	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	337					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A337V(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353000													63	92					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2955761	2955761	+	Silent	SNP	G	G	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr6:2955761G>C	uc003muk.3	-	1	2304	c.309C>G	c.(307-309)ctC>ctG	p.L103L	SERPINB6_uc003mui.3_5'UTR|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.L103L|SERPINB6_uc003mum.3_Silent_p.L103L|SERPINB6_uc003mun.3_Silent_p.L103L|SERPINB6_uc003muo.3_Silent_p.L103L	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	103					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTACTGAGAGGAAATCAC	0.493000													8	60					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288357	61288357	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr20:61288357C>T	uc002ydb.1	+	1	756	c.551C>T	c.(550-552)tCg>tTg	p.S184L		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	184					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGCACGGGGTCGCTGGTGTTC	0.692000													4	95					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633310	32633310	+	Silent	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:32633310G>A	uc003zrg.1	-	0	2358	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	756					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.P755S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAGTAATTGGCCAGGATGGA	0.443000													18	197					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													38	86					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81969202	81969202	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr14:81969202C>T	uc010tvv.2	-	5	757	c.640G>A	c.(640-642)Gca>Aca	p.A214T	SEL1L_uc001xvo.4_Missense_Mutation_p.A214T	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	214	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTCATGCTTGCTGCCTTTTGG	0.363000													17	44					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239069	8239069	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr8:8239069C>A	uc003wsh.4	-	0	189	c.189G>T	c.(187-189)agG>agT	p.R63S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	63							ATP binding|non-membrane spanning protein tyrosine kinase activity										AGTTCTCAGGCCTGGGAGGCA	0.657000													5	81					0.00448238	0.00491338	1	1	0
NKX2-5	1482	broad.mit.edu	37	5	172659730	172659730	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr5:172659730C>A	uc003mcm.2	-	1	1046	c.817G>T	c.(817-819)Gct>Tct	p.A273S	NKX2-5_uc010jjt.2_3'UTR|NKX2-5_uc011dfe.2_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.	273	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGGGTAAGCGGCAGTGCAG	0.672000													6	118					7.03913e-09	8.35896e-09	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58021430	58021430	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:58021430T>G	uc001spg.1	-	9	1787	c.1355A>C	c.(1354-1356)gAc>gCc	p.D452A	B4GALNT1_uc010sru.2_Missense_Mutation_p.D397A	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	452					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGCGGGGGTCGAAACCGAC	0.697000													5	81					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29976831	29976831	+	Silent	SNP	A	A	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr6:29976831A>G	uc003rtl.4	+	2	521	c.159A>G	c.(157-159)aaA>aaG	p.K53K	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		ATTTCTGGAAACTTCTCAAGG	0.517000													11	50					0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43121560	43121560	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr3:43121560G>A	uc003cmr.1	-	1	1707	c.1364C>T	c.(1363-1365)cCg>cTg	p.P455L	C3orf39_uc003cmq.1_Missense_Mutation_p.P455L|C3orf39_uc021wwn.1_Missense_Mutation_p.P455L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	455						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		AATGAGGGACGGGATGTCCAC	0.612000													3	108					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42886918	42886918	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:42886918C>A	uc002rso.1	+	8	1120	c.450C>A	c.(448-450)ttC>ttA	p.F150L	MTA3_uc002rsp.1_Missense_Mutation_p.F150L|MTA3_uc002rsq.3_Missense_Mutation_p.F206L	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	206	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTGGGACATTCGCCAGAGCCC	0.413000													4	58					1.23904e-05	1.38481e-05	1	1	0
DCLRE1B	64858	broad.mit.edu	37	1	114454514	114454514	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr1:114454514C>T	uc001eeg.3	+	3	1594	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.H308Y	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	434					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTTCAGTGCACTTAAGGTC	0.473000								Other identified genes with known or suspected DNA repair function					16	100					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340927	72340927	+	Silent	SNP	C	C	A	rs146234533		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr17:72340927C>A	uc002jkm.4	+	6	748	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	KIF19_uc002jkj.2_Silent_p.R204R|KIF19_uc002jkk.2_Silent_p.R162R|KIF19_uc002jkl.2_Silent_p.R162R	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	204	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGGGGAACCGGCAGAGGAC	0.672000													44	107					2.43468e-25	2.9527e-25	1	1	0
TOP3B	8940	broad.mit.edu	37	22	22318552	22318552	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr22:22318552T>G	uc002zvs.3	-	9	1514	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.H360P|TOP3B_uc010gtl.3_Missense_Mutation_p.H360P	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	360					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCAGTAGGGGTGGTTGGCCTG	0.622000													5	91					0	0	1	0	0
CLEC2D	29121	broad.mit.edu	37	12	9840539	9840539	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:9840539C>G	uc001qwf.2	+	2	237	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	CLEC2D_uc009zgt.2_Non-coding_Transcript|CLEC2D_uc009zgu.2_Missense_Mutation_p.Q72E|CLEC2D_uc001qwg.2_Missense_Mutation_p.Q72E|CLEC2D_uc021quv.1_Missense_Mutation_p.Q35E|CLEC2D_uc021quw.1_Missense_Mutation_p.Q35E|CLEC2D_uc009zgs.2_Non-coding_Transcript|CLEC2D_uc001qwh.2_Non-coding_Transcript	NM_001004419	NP_001004419	Q9UHP7	CLC2D_HUMAN	Homo sapiens C-type lectin domain family 2, member D (CLEC2D), transcript variant 2, mRNA.	72					cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						AGTATGTCTTCAAGCTGCATG	0.323000													3	36					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398215	89398215	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr15:89398215C>T	uc010upo.1	+	11	2773	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	ACAN_uc010upp.1_Missense_Mutation_p.S800F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	800					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGAGCCATCCCCCTCAGAG	0.597000													52	104					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:136340607G>T	uc004cee.3	-	4	784	c.689C>A	c.(688-690)gCc>gAc	p.A230D	SLC2A6_uc004cef.3_Missense_Mutation_p.A230D|SLC2A6_uc004ceg.3_Missense_Mutation_p.A207D|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	230						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	p.A230D(6)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCCGCAGGGCCTCTTCGTC	0.667000													6	140					0.27861	0.27861	1	1	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	34					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9583283	9583283	+	RNA	SNP	C	C	T	rs2429896		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:9583283C>T	uc021qut.1	-	0		c.54G>A			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GCCGGATGCCCGCAGCCTGCC	0.672000													3	110					0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200820	132200820	+	Silent	SNP	C	C	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:132200820C>G	uc002tst.2	-	0	1648	c.1182G>C	c.(1180-1182)ctG>ctC	p.L394L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GGACCACAGGCAGCGCCAGCT	0.642000													11	155					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:172967128_172967129insGCT	uc002uhn.3	-	0	350_351	c.138_139insAGC	c.(136-141)insAGC	p.46_47insS	DLX2_uc010zdx.1_In_Frame_Ins_p.46_47insS	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738													30	70	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													5	10	---	---	---	---					
CCDC132	55610	broad.mit.edu	37	7	92923947	92923948	+	Splice_Site	INS	-	-	G	rs140810598	by1000genomes	TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr7:92923947_92923948insG	uc003umo.3	+	14	1295	c.1167_splice	c.e14+1	p.Q389_splice	CCDC132_uc003ump.3_Splice_Site_p.Q359_splice|CCDC132_uc003umr.3_Splice_Site|CCDC132_uc011khz.2_Splice_Site_p.Q109_splice	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	389										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272													12	112	---	---	---	---					
HS3ST4	9951	broad.mit.edu	37	16	26147018	26147018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr16:26147018delA	uc002dof.3	+	1	1212	c.820delA	c.(820-822)attfs	p.I274fs		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	274					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.R273H(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCCAAGCGCATTCACTCCAT	0.498													12	101	---	---	---	---					
HS3ST4	9951	broad.mit.edu	37	16	26147021	26147023	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr16:26147021_26147023delCAC	uc002dof.3	+	1	1215_1217	c.823_825delCAC	c.(823-825)cacdel	p.H275del		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	275					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAGCGCATTCACTCCATGGCCA	0.498													12	103	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397498	17397501	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs10606406		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:17397498_17397501delTGTT	uc010xpn.1	+	7	2044_2047	c.1930_1933delTGTT	c.(1930-1935)tgtttgfs	p.C644fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtttgtgtgtgtg	0.529													5	5	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													8	22	---	---	---	---					
