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
GALE	2582	broad.mit.edu	37	1	24123528	24123528	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:24123528G>A	uc009vqo.1	-	5	848	c.638C>T	c.(637-639)tCc>tTc	p.S213F	GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	213					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTTACCTGGGAGACATAAGG	0.587												
MFSD2A	84879	broad.mit.edu	37	1	40431623	40431623	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:40431623T>C	uc001cev.3	+	5	871	c.690T>C	c.(688-690)aaT>aaC	p.N230N	MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.3_Silent_p.N217N|MFSD2A_uc010ojc.2_Silent_p.N61N|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	230					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGACCTCAATAGCTCTACAG	0.572												
CYP4Z1	199974	broad.mit.edu	37	1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	rs145758676		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:47583502C>T	uc001cqu.1	+	11	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	472						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468												
ITGA10	8515	broad.mit.edu	37	1	145534987	145534988	+	Frame_Shift_Ins	INS	-	-	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:145534987_145534988insG	uc001eoa.3	+	14	1966_1967	c.1890_1891insG	c.(1888-1893)gctgtgfs	p.A630fs	ITGA10_uc010oyv.2_Frame_Shift_Ins_p.A499fs|ITGA10_uc009wiw.3_Frame_Shift_Ins_p.A487fs|ITGA10_uc010oyw.2_Frame_Shift_Ins_p.A575fs	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	630					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGATGTGGCTGTGGGTGCCCA	0.579												
ERCC6	2074	broad.mit.edu	37	10	50690803	50690803	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:50690803A>G	uc001jhs.4	-	9	2253	c.2099T>C	c.(2098-2100)tTg>tCg	p.L700S	ERCC6_uc010qgr.2_Missense_Mutation_p.L70S|ERCC6_uc001jhr.4_Missense_Mutation_p.L100S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	700					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACACAGGCAACGTGCCTAA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)				
NOC3L	64318	broad.mit.edu	37	10	96099659	96099659	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:96099659A>G	uc001kjq.1	-	16	1887	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	600						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TACAATCTCAACACCTTCATT	0.433												
OR4A16	81327	broad.mit.edu	37	11	55111268	55111268	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55111268G>T	uc010rie.2	+	0	592	c.592G>T	c.(592-594)Gtt>Ttt	p.V198F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCACTGTGGTTGCCAATGG	0.428												
OR5I1	10798	broad.mit.edu	37	11	55703585	55703585	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55703585C>A	uc010ris.2	-	0	292	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G98V(1)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCACACCCATAATAGGAA	0.428												
OR8K3	219473	broad.mit.edu	37	11	56085869	56085869	+	Silent	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:56085869A>G	uc010rjf.2	+	0	87	c.87A>G	c.(85-87)gcA>gcG	p.A29A		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATTATTTGCATTGTTCCTCA	0.433												
C11orf2	738	broad.mit.edu	37	11	64876151	64876151	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:64876151C>T	uc001ocr.1	+	4	1248	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	C11orf2_uc001ocs.1_Missense_Mutation_p.A279V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	403					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GAACGAGTGGCCCGCGAGCGC	0.761												
OR8D4	338662	broad.mit.edu	37	11	123777373	123777373	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:123777373C>A	uc010saa.2	+	0	235	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTCATTACCCCTAAAATGCT	0.358												
VSIG2	23584	broad.mit.edu	37	11	124618351	124618351	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:124618351G>A	uc001qas.3	-	5	862	c.786C>T	c.(784-786)tgC>tgT	p.C262C	VSIG2_uc001qat.3_Silent_p.C262C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	262						integral to plasma membrane|membrane fraction		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCTGACCAGGCAGAACGCAG	0.617												
CD163L1	283316	broad.mit.edu	37	12	7527492	7527492	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:7527492C>A	uc010sge.2	-	11	3085	c.3059G>T	c.(3058-3060)tGc>tTc	p.C1020F	CD163L1_uc001qsy.3_Missense_Mutation_p.C1010F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1010						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTGCGAGGCATGGAAACAG	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCAF11	9169	broad.mit.edu	37	12	46357935	46357935	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:46357935C>T	uc001rox.3	-	1	303	c.16G>A	c.(16-18)Gta>Ata	p.V6I	SCAF11_uc001roy.1_Missense_Mutation_p.V70I|SCAF11_uc009zki.1_Non-coding_Transcript|SCAF11_uc001roz.3_Missense_Mutation_p.V6I	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	6					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGGGTACATACAGTTTTCTTC	0.279												
GRIP1	23426	broad.mit.edu	37	12	66773075	66773075	+	Missense_Mutation	SNP	C	C	T	rs145115262	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:66773075C>T	uc001stk.3	-	18	2691	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.3_Missense_Mutation_p.R599Q|GRIP1_uc001stm.3_Missense_Mutation_p.R817Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	869					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGCTGTGGACCGGTCCCAGTC	0.517												
LRRC43	254050	broad.mit.edu	37	12	122672375	122672375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:122672375C>T	uc009zxm.3	+	3	675	c.650C>T	c.(649-651)aCc>aTc	p.T217I	LRRC43_uc001ubw.4_Missense_Mutation_p.T32I|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	217										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTACGTCACCGCTAATCAC	0.562												
NBEA	26960	broad.mit.edu	37	13	35685025	35685025	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:35685025G>C	uc021rid.1	+	12	2446	c.1912G>C	c.(1912-1914)Gga>Cga	p.G638R	NBEA_uc021ric.1_Missense_Mutation_p.G638R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	638						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGCAGAGTAGGAACAGTATT	0.368												
IRS2	8660	broad.mit.edu	37	13	110434967	110434968	+	Frame_Shift_Ins	INS	-	-	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:110434967_110434968insG	uc001vqv.3	-	0	3947_3948	c.3433_3434insC	c.(3433-3435)cgcfs	p.R1145fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	1145					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACTGTGGCGGCGGCGGCCCCCC	0.723												
OR4K2	390431	broad.mit.edu	37	14	20344857	20344857	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:20344857T>C	uc001vwh.1	+	0	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTCTCGTGGTGGCT	0.463												
PCNX	22990	broad.mit.edu	37	14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:71540387C>T	uc001xmo.2	+	26	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1660						integral to membrane		p.R1660*(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTAGCCAGCGATGGCTAGC	0.438												
EML5	161436	broad.mit.edu	37	14	89168805	89168805	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:89168805G>A	uc021ryf.1	-	13	2472	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_uc021ryg.1_Silent_p.Y741Y|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	741						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368												
AQR	9716	broad.mit.edu	37	15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168164A>G	uc001ziv.3	-	27	3390	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1070						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358												
AQR	9716	broad.mit.edu	37	15	35168175	35168175	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168175C>T	uc001ziv.3	-	27	3379	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1066						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCCAGAATCTGAGCAGCCT	0.353												
NOX5	79400	broad.mit.edu	37	15	69324094	69324094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:69324094G>T	uc002ars.2	+	3	603	c.562G>T	c.(562-564)Gag>Tag	p.E188*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.E142*|NOX5_uc002arp.2_Nonsense_Mutation_p.E170*|NOX5_uc010bid.2_Nonsense_Mutation_p.E153*|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Nonsense_Mutation_p.E160*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	188	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCACCTTCGAGGAGCTCCG	0.677												
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:102292797C>G	uc010usj.2	+	3	444	c.385C>G	c.(385-387)Cca>Gca	p.P129A	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597												
PAPD5	64282	broad.mit.edu	37	16	50263117	50263117	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr16:50263117C>G	uc010vgo.2	+	12	2010	c.1975C>G	c.(1975-1977)Caa>Gaa	p.Q659E	PAPD5_uc002efz.3_Missense_Mutation_p.Q612E|PAPD5_uc010cbi.2_Intron	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	533					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGGTACAACTCAAACAAGCCA	0.433												
INPP5K	51763	broad.mit.edu	37	17	1419767	1419767	+	Silent	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:1419767C>G	uc002fsr.3	-	0	416	c.27G>C	c.(25-27)ccG>ccC	p.P9P	INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_5'UTR|INPP5K_uc010vqm.2_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P|LOC100306951_uc021tne.1_5'Flank	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	9					actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTGCCTTTCGGCCCGCTCA	0.756												
PHF12	57649	broad.mit.edu	37	17	27233967	27233967	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:27233967T>C	uc002hdg.1	-	13	3117	c.2587A>G	c.(2587-2589)Acg>Gcg	p.T863A	PHF12_uc010wbb.1_Missense_Mutation_p.T845A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	863	FHA.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCCACCGTTGTCCCATGC	0.507												
DSG3	1830	broad.mit.edu	37	18	29052357	29052357	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr18:29052357G>A	uc002kws.3	+	12	2117	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	670					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATCAGTGGGGAATTGAAGG	0.428												
S1PR4	8698	broad.mit.edu	37	19	3179828	3179828	+	Silent	SNP	C	C	T	rs147906636	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:3179828C>T	uc002lxg.3	+	0	1093	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	346					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						AGGCTCACTCCGGAGCTTCCA	0.687												
TYK2	7297	broad.mit.edu	37	19	10463654	10463654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:10463654C>T	uc002moc.4	-	21	3526	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	TYK2_uc010dxe.3_Missense_Mutation_p.E865K	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1050	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGTGGCCTTCGGGCACGGCC	0.652												
LOC100507433	163255	broad.mit.edu	37	19	38103690	38103690	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:38103690C>T	uc002ogq.3	+	4	1876	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	LOC100507433_uc002ogu.3_Silent_p.T503T|LOC100507433_uc010efq.3_Silent_p.T471T	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		GTGGGAAGACCTTTAGATTTG	0.393												
CD33	945	broad.mit.edu	37	19	51728575	51728575	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:51728575A>T	uc002pwa.2	+	1	179	c.139A>T	c.(139-141)Ata>Tta	p.I47L	CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	47	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.P46H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTCCATCCCATACCCTACTA	0.532												
ROCK2	9475	broad.mit.edu	37	2	11332301	11332301	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:11332301C>T	uc002rbd.1	-	31	4585	c.4136G>A	c.(4135-4137)aGt>aAt	p.S1379N		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1379					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCTGTCGACTTGGCCGTCT	0.368												
ITSN2	50618	broad.mit.edu	37	2	24526701	24526701	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:24526701G>A	uc002rfe.2	-	8	1082	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.3_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	275	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGATTTGACTGAAGAAG	0.318												
EIF2AK2	5610	broad.mit.edu	37	2	37376027	37376027	+	Translation_Start_Site	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:37376027C>T	uc010ynh.2	-	1					EIF2AK2_uc010fab.2_5'Flank|EIF2AK2_uc010yng.2_5'Flank|EIF2AK2_uc010fac.3_5'UTR|EIF2AK2_uc010fad.2_5'UTR	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.						evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAAAATGCACGCAGATAATC	0.433												
ZNF638	27332	broad.mit.edu	37	2	71577393	71577393	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:71577393C>A	uc002shx.3	+	1	1632	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H437N|ZNF638_uc002shz.3_Missense_Mutation_p.H437N|ZNF638_uc002shy.3_Missense_Mutation_p.H437N|ZNF638_uc002sia.3_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	437					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAATGTAGTCATTTGAAGGT	0.358												
ADRA2B	151	broad.mit.edu	37	2	96781837	96781837	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:96781837C>T	uc021vlh.1	-	0	52	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	18					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AAGGTGATGGCCGCCGCTATG	0.662												
WIPF1	7456	broad.mit.edu	37	2	175432647	175432647	+	Silent	SNP	A	A	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:175432647A>C	uc002uiz.3	-	5	1384	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002ujb.2_Silent_p.P428P	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	428	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGGGGAGGTGCCCCAG	0.587												
FAM113A	64773	broad.mit.edu	37	20	2819125	2819125	+	Splice_Site	DEL	C	C	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:2819125delC	uc002wgz.1	-	6	1092	c.595_splice	c.e6-1	p.L199_splice	FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	199							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						GGGGCTGGAGCTAAGTGAGAA	0.572												
ISM1	140862	broad.mit.edu	37	20	13260546	13260546	+	Splice_Site	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:13260546G>T	uc010gce.1	+	3	649	c.643_splice	c.e3+1	p.D215_splice	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	215						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGAATATGGTGAGTTTACC	0.498												
CSTF1	1477	broad.mit.edu	37	20	54974411	54974411	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:54974411C>T	uc002xxl.1	+	4	1234	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	345					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA 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)			GTCAGATACACGGGTATGTGA	0.373												
CXADR	1525	broad.mit.edu	37	21	18933791	18933791	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr21:18933791T>C	uc002yki.3	+	5	1054	c.830T>C	c.(829-831)aTc>aCc	p.I277T	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I236T|CXADR_uc002ykj.2_Missense_Mutation_p.I277T	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	277					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCACGATATCAGGTAATTA	0.363												
KIF15	56992	broad.mit.edu	37	3	44882590	44882590	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:44882590C>G	uc003cnx.4	+	28	3594	c.3445C>G	c.(3445-3447)Caa>Gaa	p.Q1149E	KIF15_uc010hiq.3_Missense_Mutation_p.Q1052E|KIF15_uc010hir.3_Missense_Mutation_p.Q197E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1149					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTCACTTTCAAACACATTT	0.333												
SETD2	29072	broad.mit.edu	37	3	47147485	47147485	+	Splice_Site	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:47147485A>G	uc003cqv.3	-	6	4892	c.4806_splice	c.e6+1	p.E1602_splice	SETD2_uc003cqs.3_Splice_Site_p.E1613_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1613	SET.				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)		CAAGCTGCTTACCTCATCATT	0.368			"""N, F, S, Mis"""		clear cell renal carcinoma							
UQCRC1	7384	broad.mit.edu	37	3	48641675	48641675	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:48641675T>C	uc003cub.1	-	4	662	c.617A>G	c.(616-618)gAg>gGg	p.E206G		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	206					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCTGACATTCTCACTGGGCCC	0.552												
MECOM	2122	broad.mit.edu	37	3	168810761	168810761	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:168810761C>T	uc011bpj.1	-	13	3552	c.3149G>A	c.(3148-3150)aGg>aAg	p.R1050K	MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc003ffi.3_Missense_Mutation_p.R862K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpk.1_Missense_Mutation_p.R862K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCCACATTCCTGGGAGATTG	0.403												
SAMD7	344658	broad.mit.edu	37	3	169656173	169656173	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:169656173A>G	uc003fgd.3	+	8	1487	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	SAMD7_uc003fge.3_Missense_Mutation_p.D407G|SAMD7_uc011bpo.2_Missense_Mutation_p.D308G	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGCATTTGATCAACCAGCA	0.348												
PDGFRA	5156	broad.mit.edu	37	4	55133888	55133899	+	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:55133888_55133899delGGAAAAGATTCA	uc003han.4	+	6	1432_1443	c.1101_1112delGGAAAAGATTCA	c.(1099-1113)gtggaaaagattcag>gtg	p.EKIQ368del	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	368	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
ENAM	10117	broad.mit.edu	37	4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:71509712C>A	uc011caw.1	+	8	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	857					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448												
PTPN13	5783	broad.mit.edu	37	4	87728883	87728883	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:87728883G>A	uc003hpz.3	+	44	7396	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T	PTPN13_uc003hpy.3_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.3_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.3_Missense_Mutation_p.A2115T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2306	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACAGTGATAGCCATGATGAC	0.453												
ADH1A	124	broad.mit.edu	37	4	100205753	100205753	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:100205753G>T	uc003hur.2	-	4	484	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	124					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCATCCTGCAGGGTCCCCTGA	0.517												
PRMT10	90826	broad.mit.edu	37	4	148589774	148589774	+	Missense_Mutation	SNP	C	C	A	rs147339843	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:148589774C>A	uc003ilc.3	-	5	1011	c.869G>T	c.(868-870)tGt>tTt	p.C290F	PRMT10_uc003ild.3_Missense_Mutation_p.C177F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	290						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATACTTTTCACAATTAGCACT	0.318												
FGA	2243	broad.mit.edu	37	4	155508053	155508053	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:155508053C>G	uc003iod.1	-	4	586	c.528G>C	c.(526-528)aaG>aaC	p.K176N	FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	176					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGATCGGATCTTAATATCAA	0.393												
NIPBL	25836	broad.mit.edu	37	5	37064969	37064969	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:37064969C>T	uc003jkl.4	+	46	8889	c.8390C>T	c.(8389-8391)gCc>gTc	p.A2797V	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2797					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A2797A(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCCCTGTATGCCGCCAAGGAT	0.358												
PCDHAC2	56141	broad.mit.edu	37	5	140215867	140215867	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:140215867G>A	uc003lhq.2	+	0	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	644	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647												
TRIM15	89870	broad.mit.edu	37	6	30131441	30131441	+	Translation_Start_Site	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:30131441C>T	uc010jrx.3	+	0					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.						mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGGAGTGGACGGGCTGGGGA	0.622												
HSPA1L	3305	broad.mit.edu	37	6	31778907	31778907	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:31778907C>A	uc003nxh.3	-	1	1026	c.843G>T	c.(841-843)caG>caT	p.Q281H	HSPA1L_uc010jte.3_Missense_Mutation_p.Q281H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q281H	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	281					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGGTTGGCCTGGGTGCTGG	0.522												
PKHD1	5314	broad.mit.edu	37	6	51484145	51484145	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:51484145G>C	uc003pah.1	-	66	12235	c.11959C>G	c.(11959-11961)Cct>Gct	p.P3987A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3987					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)					TGCTGAGCAGGAGCACCTGGA	0.572												
MTHFD1L	25902	broad.mit.edu	37	6	151281413	151281413	+	Silent	SNP	G	G	A	rs146093887	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:151281413G>A	uc021zgs.1	+	17	1953	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.A602A|MTHFD1L_uc021zgt.1_Silent_p.A537A|MTHFD1L_uc003qoc.3_Silent_p.A550A	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612												
PCLO	27445	broad.mit.edu	37	7	82785272	82785272	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:82785272G>T	uc003uhx.2	-	1	974	c.685C>A	c.(685-687)Ccg>Acg	p.P229T	PCLO_uc003uhv.2_Missense_Mutation_p.P229T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	229	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGAAGCGGATCCCTACCA	0.463												
TFPI2	7980	broad.mit.edu	37	7	93519537	93519537	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:93519537G>A	uc003umy.1	-	1	258	c.183C>T	c.(181-183)tgC>tgT	p.C61C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	61	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GGAACTGGCGGCAGCTCTGCG	0.577												
MOGAT3	346606	broad.mit.edu	37	7	100841600	100841600	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:100841600C>T	uc003uyc.3	-	4	707	c.540G>A	c.(538-540)caG>caA	p.Q180Q	MOGAT3_uc010lhr.3_Silent_p.Q180Q	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	180					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAGCTGGGGCTGGGACAGGA	0.657												
EIF3IP1	442720	broad.mit.edu	37	7	109600160	109600160	+	Translation_Start_Site	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:109600160C>T	uc003vfp.1	-	0										Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		TCCTTGGCCACGGTGAAGAGG	0.512												
KCNU1	157855	broad.mit.edu	37	8	36661576	36661576	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:36661576C>G	uc010lvw.3	+	2	434	c.347C>G	c.(346-348)tCt>tGt	p.S116C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	116						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTGGGTCTCTTATAATC	0.358												
SNX16	64089	broad.mit.edu	37	8	82714627	82714627	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:82714627T>A	uc003ycn.3	-	6	1187	c.926A>T	c.(925-927)gAt>gTt	p.D309V	SNX16_uc003yco.3_Missense_Mutation_p.D280V|SNX16_uc011lft.2_Missense_Mutation_p.D309V	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	309				LDEE -> WMR (in Ref. 1; AAG25676).	cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGATTCTTCATCCAGGACATC	0.343												
TAF1L	138474	broad.mit.edu	37	9	32635178	32635178	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:32635178A>G	uc003zrg.1	-	0	490	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	134					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|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			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)		TCCGAGTGGTAAAGGGGCTGC	0.478												
PIGO	84720	broad.mit.edu	37	9	35090223	35090223	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:35090223C>T	uc003zwd.3	-	8	3305	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	PIGO_uc003zwe.3_Missense_Mutation_p.R553Q|PIGO_uc003zwf.3_Missense_Mutation_p.R553Q|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	970					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTCTTCCGCAGCCCTTG	0.607												
NR4A3	8013	broad.mit.edu	37	9	102590645	102590645	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:102590645T>C	uc022bky.1	+	3	1122	c.354T>C	c.(352-354)caT>caC	p.H118H	NR4A3_uc004bae.3_Silent_p.H107H|NR4A3_uc004baf.1_Silent_p.H107H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	107					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaccaccatcaccaGCAGC	0.627			T	EWSR1	extraskeletal myxoid chondrosarcoma							
