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
VPS13D	55187	broad.mit.edu	37	1	12418559	12418559	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:12418559C>T	uc001atv.3	+	49	10184	c.10043C>T	c.(10042-10044)cCg>cTg	p.P3348L	VPS13D_uc001atw.3_Missense_Mutation_p.P3323L|VPS13D_uc001atx.3_Missense_Mutation_p.P2535L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCATGCCGGGCTGGTGT	0.512												
RPL11	6135	broad.mit.edu	37	1	24018320	24018320	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:24018320G>C	uc001bhk.3	+	1	51	c.6_splice	c.e1+1	p.A2_splice	RPL11_uc001bhl.3_Splice_Site_p.A2_splice	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	2					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|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;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LEPR	3953	broad.mit.edu	37	1	66083830	66083830	+	Splice_Site	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:66083830G>T	uc001dci.3	+	16	2784	c.2395_splice	c.e16+1	p.D799_splice	LEPR_uc001dcg.3_Splice_Site_p.D799_splice|LEPR_uc001dch.3_Splice_Site_p.D799_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.D799_splice|LEPR_uc001dcj.3_Splice_Site_p.D799_splice|LEPR_uc001dck.3_Splice_Site_p.D799_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	799	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATATCCATGGTAAGTTTACT	0.259												
RPL5	6125	broad.mit.edu	37	1	93299218	93299218	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:93299218G>C	uc001doz.3	+	3	267	c.189_splice	c.e3+1	p.Q63_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.Q13_splice|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	63					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTTGTCAGGTAAGTTGTAT	0.393												
CD101	9398	broad.mit.edu	37	1	117552817	117552817	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:117552817A>T	uc010oxb.1	+	1	447	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	CD101_uc009whd.3_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGAAATACTATGGAAGT	0.463												
NBPF10	400818	broad.mit.edu	37	1	144816536	144816536	+	Silent	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:144816536T>G	uc009wig.1	+	11	1631	c.1437T>G	c.(1435-1437)acT>acG	p.T479T	NBPF10_uc010oxo.1_Silent_p.T481T|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.T210T|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.T141T	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	481										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGCCATCACTTATTCAAATA	0.463												
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:145360624G>A	uc021oul.1	+	73	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3083								p.S3083S(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478												
PTPRC	5788	broad.mit.edu	37	1	198721383	198721383	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:198721383C>T	uc001gur.1	+	29	3387	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	PTPRC_uc001gut.1_Silent_p.I908I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1069	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTAGGAAATCTGTGCTCAGT	0.388												
NAV1	89796	broad.mit.edu	37	1	201750337	201750337	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:201750337C>T	uc021phi.1	+	4	1910	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	NAV1_uc001gwu.3_Silent_p.I521I|NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.2_Silent_p.I130I|NAV1_uc001gwx.3_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	521					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAAGCCCATCAGCCTGGGCC	0.577												
PCNXL2	80003	broad.mit.edu	37	1	233395011	233395011	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:233395011C>T	uc001hvl.2	-	4	832	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	199						integral to membrane		p.A199G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCTTGAGACGCAGGTAAGC	0.448												
RYR2	6262	broad.mit.edu	37	1	237794836	237794836	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:237794836T>C	uc001hyl.1	+	41	6670	c.6550T>C	c.(6550-6552)Tcc>Ccc	p.S2184P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2184	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTGGAGAGTCCAAGGTAAC	0.393												
GPR158	57512	broad.mit.edu	37	10	25886887	25886887	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886887G>T	uc001isj.3	+	10	2392	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	GPR158_uc001isk.3_Missense_Mutation_p.D153Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	778						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGGGCGCCGACCATGGCAC	0.567												
GPR158	57512	broad.mit.edu	37	10	25886905	25886905	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886905G>C	uc001isj.3	+	10	2410	c.2350G>C	c.(2350-2352)Ggc>Cgc	p.G784R	GPR158_uc001isk.3_Missense_Mutation_p.G159R	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	784						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACAGCCAAAGGCACTGCCCT	0.547												
MYO3A	53904	broad.mit.edu	37	10	26446423	26446423	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:26446423T>A	uc001isn.2	+	25	3338	c.2978T>A	c.(2977-2979)cTt>cAt	p.L993H	MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	993	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCGGATACTTTTTGCTAAC	0.333												
CXCL12	6387	broad.mit.edu	37	10	44876321	44876321	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:44876321G>A	uc001jbf.3	-	1	161	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_uc001jbh.3_Silent_p.P23P|CXCL12_uc021ppm.1_Silent_p.P23P|CXCL12_uc001jbi.3_Silent_p.P23P	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	23					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P23P(4)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCAGGCTGACGGGCTTCCCTA	0.507												
OR52I2	143502	broad.mit.edu	37	11	4609074	4609074	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:4609074C>A	uc010qyh.2	+	0	1054	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTTTGACCATTCCAACC	0.453												
TEAD1	7003	broad.mit.edu	37	11	12946585	12946585	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:12946585G>A	uc021qdx.1	+	10	1620	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TEAD1_uc001mkk.4_Missense_Mutation_p.V238I|TEAD1_uc009ygl.3_Missense_Mutation_p.V155I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	334	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAAGCAAGTAGTAGAAAAAGT	0.438												
OR5M3	219482	broad.mit.edu	37	11	56237516	56237516	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:56237516G>A	uc010rjk.2	-	0	499	c.458C>T	c.(457-459)aCg>aTg	p.T153M	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCAGACTCGTCAGAAAACC	0.413												
SCYL1	57410	broad.mit.edu	37	11	65303487	65303487	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:65303487C>T	uc001oea.1	+	10	1527	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SCYL1_uc009yqk.3_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	484					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TGCACCGTCCCGGGTTGCGGG	0.597												
FAT3	120114	broad.mit.edu	37	11	92568240	92568240	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:92568240C>T	uc001pdj.4	+	13	10093	c.10076C>T	c.(10075-10077)tCt>tTt	p.S3359F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3359	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGAGACTCTGTCATTTTG	0.468										TCGA Ovarian(4;0.039)		
EXPH5	23086	broad.mit.edu	37	11	108380635	108380635	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:108380635G>A	uc001pkk.3	-	5	5710	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	EXPH5_uc010rvz.2_Missense_Mutation_p.R1711C|EXPH5_uc010rvy.2_Missense_Mutation_p.R1679C	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1867					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCCCGCTGCGATAAGCCCAA	0.428												
DDX6	1656	broad.mit.edu	37	11	118626197	118626197	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:118626197C>T	uc001pub.2	-	11	1551	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	397	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	p.G386V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATATCAATACCTCGGGTAAA	0.323			T	IGH@	B-NHL							
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:416952_416953insT	uc001qif.1	-	22	3960_3961	c.3597_3598insA	c.(3595-3600)aaaggafs	p.K1199fs		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1199					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML							
B4GALNT3	283358	broad.mit.edu	37	12	662979	662979	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:662979G>A	uc001qii.1	+	13	1890	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	630						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTTTGACCCGGTAGTAAACT	0.547												
CLSTN3	9746	broad.mit.edu	37	12	7294683	7294683	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:7294683G>A	uc001qss.3	+	9	2061	c.1523_splice	c.e9-1	p.E508_splice	CLSTN3_uc001qsr.3_Splice_Site_p.E496_splice	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	496					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCCCCAGAGGAGAAGAACA	0.453											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RIMKLB	57494	broad.mit.edu	37	12	8926145	8926162	+	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-	rs34259191		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	uc001qux.2	+	6	2188_2205	c.926_943delCTGGCCGGCTCACCCGGC	c.(925-945)tctggccggctcacccggcgt>tgt	p.309_315SGRLTRR>C	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	309					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.R314W(2)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	0.550												
BCL2L14	79370	broad.mit.edu	37	12	12247837	12247837	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12247837G>A	uc001rac.3	+	4	1119	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.S306S|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	306					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AGAACTTCTCGCCATGGATCC	0.448												
LRP6	4040	broad.mit.edu	37	12	12274335	12274335	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12274335G>A	uc001rah.4	-	22	4709	c.4567C>T	c.(4567-4569)Cgg>Tgg	p.R1523W	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1523					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCAAAGTGCCGGTAGCTATAT	0.458												
TPTE2	93492	broad.mit.edu	37	13	20041405	20041405	+	Missense_Mutation	SNP	A	A	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:20041405A>C	uc001umd.3	-	7	683	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	158						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAAATGTAAATGACATCA	0.294												
PABPC3	5042	broad.mit.edu	37	13	25671552	25671552	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:25671552G>A	uc001upy.3	+	0	1277	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	406					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCATGACAGCTGTCCCACA	0.532												
PROSER1	80209	broad.mit.edu	37	13	39586362	39586362	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:39586362G>A	uc001uwy.3	-	11	3443	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F	PROSER1_uc001uwz.3_Missense_Mutation_p.S835F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	857																	TTGAAGTCCAGATGATAAACT	0.383												
DIS3	22894	broad.mit.edu	37	13	73336102	73336102	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:73336102T>A	uc001vix.4	-	16	2675	c.2301A>T	c.(2299-2301)ttA>ttT	p.L767F	DIS3_uc001viy.4_Missense_Mutation_p.L737F|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	767					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328										Multiple Myeloma(4;0.011)		
GPR132	29933	broad.mit.edu	37	14	105518226	105518226	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr14:105518226C>T	uc001yqd.3	-	3	1147	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.C74Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	83					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGTGCCAGGCAGAGCAGGTA	0.662												
RYR3	6263	broad.mit.edu	37	15	34047281	34047281	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:34047281G>A	uc001zhi.3	+	57	8485	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	RYR3_uc010bar.3_Missense_Mutation_p.M2805I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2805	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGGATATGGAGCTGGATG	0.458												
BUB1B	701	broad.mit.edu	37	15	40512942	40512942	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:40512942G>A	uc001zkx.4	+	22	3347	c.3135G>A	c.(3133-3135)ggG>ggA	p.G1045G	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	1045	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTAGTCCTGGGGCTTTGCTCT	0.443			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome			
ZNF280D	54816	broad.mit.edu	37	15	56993158	56993158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:56993158delA	uc002adu.3	-	5	571	c.354delT	c.(352-354)tctfs	p.S118fs	ZNF280D_uc002adv.3_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.3_Frame_Shift_Del_p.S118fs	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAACAATAACAGAACTATCTG	0.393												
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:79059831T>G	uc002bej.4	-	17	2960	c.2749A>C	c.(2749-2751)Agc>Cgc	p.S917R	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	917	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGGGCGCTCTGCTCATCC	0.701												
C16orf91	283951	broad.mit.edu	37	16	1478504	1478504	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:1478504C>T	uc010uvd.2	-	1	147	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGCCGCCCGCGCCTTTCAGG	0.677												
CREBBP	1387	broad.mit.edu	37	16	3843446	3843446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:3843446delC	uc002cvv.3	-	3	1361	c.1157delG	c.(1156-1158)cgafs	p.R386fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.R386fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	386	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.T387fs*5(1)|p.R386*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTCATGGTTCGACAATGCGG	0.507			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ABR	29	broad.mit.edu	37	17	953842	953842	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:953842C>T	uc002fsd.3	-	14	1704	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	ABR_uc002fse.3_Missense_Mutation_p.G486S|ABR_uc010vqg.2_Missense_Mutation_p.G314S|ABR_uc002fsg.3_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	532	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAAAATAGCCGAAGGAATCC	0.617												
SPACA3	124912	broad.mit.edu	37	17	31322643	31322643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:31322643delC	uc002hhs.1	+	1	326	c.251delC	c.(250-252)tccfs	p.S84fs	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	84					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTGCTACCCTCCAGTGAGGCC	0.607												
SLC35G3	146861	broad.mit.edu	37	17	33521251	33521251	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:33521251G>A	uc002hjd.2	-	0	162	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	26						integral to membrane											TGGTACCAGCGGAGGCTGGGT	0.657												
GSDMA	284110	broad.mit.edu	37	17	38122551	38122551	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:38122551C>T	uc002htl.1	+	2	371	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	GSDMA_uc002htm.1_Silent_p.L85L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	85					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TAAGAATATGCTGGACACCCG	0.537												
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612												
ARSG	22901	broad.mit.edu	37	17	66391258	66391258	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:66391258G>A	uc002jhc.2	+	9	1932	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TRNA_Und_uc021uce.1_5'Flank	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	379					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCCAGGCCAGCTTACCTCAA	0.587												
NEDD4L	23327	broad.mit.edu	37	18	56010160	56010160	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr18:56010160G>A	uc002lgy.3	+	15	1683	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	NEDD4L_uc002lgz.3_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.3_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.3_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.3_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	467					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACCCGTACGTCGGGCTGTG	0.488												
HMG20B	10362	broad.mit.edu	37	19	3578077	3578077	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:3578077G>A	uc002lya.3	+	8	975	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	HMG20B_uc002lyb.3_Missense_Mutation_p.V201I	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	303					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCATCGTCCGCATCAA	0.701												
SAFB	6294	broad.mit.edu	37	19	5668177	5668177	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:5668177G>A	uc002mcg.3	+	20	2800	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S	SAFB_uc002mcf.3_Missense_Mutation_p.G875S|SAFB_uc002mce.4_Missense_Mutation_p.G876S|SAFB_uc010xis.2_Missense_Mutation_p.G808S|SAFB_uc010xit.2_Missense_Mutation_p.G719S|SAFB_uc010xir.2_Missense_Mutation_p.G874S|SAFB_uc010xiu.2_Missense_Mutation_p.G676S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	875	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTAGGCGCGGCAGCTTTGC	0.677												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
SPTBN1	6711	broad.mit.edu	37	2	54852086	54852086	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:54852086G>A	uc002rxu.3	+	10	1577	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R430H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	443					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAAACCAGCGTCTGGTGTCT	0.507												
BCL11A	53335	broad.mit.edu	37	2	60688379	60688379	+	Missense_Mutation	SNP	C	C	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:60688379C>G	uc002sae.1	-	3	1896	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	BCL11A_uc002sab.3_Missense_Mutation_p.Q556H|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.2_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	556					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCTGAAGTGCTGCATGGAGC	0.697			T	IGH@	B-CLL							
SLC9A4	389015	broad.mit.edu	37	2	103095487	103095487	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:103095487G>A	uc002tbz.4	+	1	903	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	149					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGCCCACCCGGCCCTTCTTT	0.597												
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:113588108G>A	uc002tii.1	-	6	727	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423												
TUBA4A	7277	broad.mit.edu	37	2	220116339	220116339	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220116339T>C	uc002vkt.1	-	2	381	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	108					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAATGGTATAGTGACCACG	0.532												
DES	1674	broad.mit.edu	37	2	220286104	220286104	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220286104T>A	uc002vll.3	+	5	1152	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	356	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.F356I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACCGATTTGCCAGTGA	0.587												
COL4A4	1286	broad.mit.edu	37	2	227886828	227886828	+	Silent	SNP	C	C	T	rs75398993	by1000genomes	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:227886828C>T	uc021vxr.1	-	42	4253	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_uc021vxs.1_Silent_p.A1381A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567												
BTBD3	22903	broad.mit.edu	37	20	11899075	11899075	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:11899075A>G	uc002wnz.3	+	0	511	c.152A>G	c.(151-153)gAa>gGa	p.E51G	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	51								p.E51K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTTTGTTATGAAATAATTACC	0.458												
RPRD1B	58490	broad.mit.edu	37	20	36676850	36676850	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:36676850T>C	uc002xho.4	+	2	784	c.382T>C	c.(382-384)Tct>Cct	p.S128P		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	128	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTGAAGCTGTCTATGGAGGA	0.453												
DNAJC28	54943	broad.mit.edu	37	21	34860697	34860697	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr21:34860697A>G	uc021wim.1	-	0	1004	c.1004T>C	c.(1003-1005)gTc>gCc	p.V335A	DNAJC28_uc002yrv.3_Missense_Mutation_p.V335A|DNAJC28_uc002yrw.3_Missense_Mutation_p.V335A	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	335				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGGCTCTGACAATTTCTTT	0.343												
SOX10	6663	broad.mit.edu	37	22	38369502	38369502	+	Nonstop_Mutation	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:38369502T>G	uc003aun.1	-	3	1679	c.1401A>C	c.(1399-1401)taA>taC	p.*467Y	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	0						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGGGCCCCCTTTAGGGCCGGG	0.692												
CELSR1	9620	broad.mit.edu	37	22	46807508	46807508	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:46807508C>T	uc003bhw.1	-	5	4760	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1587	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCTTGGAGCCGGTCTGAGT	0.632												
PLXNB2	23654	broad.mit.edu	37	22	50719359	50719359	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:50719359C>T	uc003bkv.4	-	23	3900	c.3807G>A	c.(3805-3807)gaG>gaA	p.E1269E	PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1269					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGATGCCGGCCTCGTGCACGT	0.652												
ZNF385D	79750	broad.mit.edu	37	3	21462765	21462765	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:21462765G>A	uc003cce.3	-	7	1537	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	377						nucleus	nucleic acid binding|zinc ion binding	p.R377W(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCTGGCCGCAGGAGTGCC	0.532												
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:178921553T>A	uc003fjk.3	+	4	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PDGFRA	5156	broad.mit.edu	37	4	55152112	55152113	+	In_Frame_Ins	INS	-	-	TTT			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:55152112_55152113insTTT	uc003han.4	+	17	2875_2876	c.2544_2545insTTT	c.(2542-2547)insTTT	p.848_849insF	PDGFRA_uc003haa.3_In_Frame_Ins_p.608_609insF	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	848	Protein kinase.				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	p.(814_854)?(57)|p.M844_S847del(9)|p.I843_S847>T(7)|p.Y849C(4)|p.H845_N848>P(3)|p.Y849D(2)|p.M844_S847>P(2)|p.Y849S(2)|p.N848K(2)|p.S847fs*1(1)|p.H845_N848del(1)|p.I843_S847>H(1)|p.D842_S847>EA(1)|p.I843_S847>L(1)|p.D842_S847>RV(1)|p.I843_S847>I(1)		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)	ATGATTCGAACTATGTGTCGAA	0.495			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
EPHA5	2044	broad.mit.edu	37	4	66467624	66467624	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:66467624T>A	uc003hcy.3	-	2	838	c.645A>T	c.(643-645)caA>caT	p.Q215H	EPHA5_uc003hcx.3_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.3_Missense_Mutation_p.Q215H|EPHA5_uc011cah.2_Missense_Mutation_p.Q215H|EPHA5_uc011cai.2_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	215					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCAACATCTTGAAAAGCAA	0.428										TSP Lung(17;0.13)		
CEP170P1	645455	broad.mit.edu	37	4	119475218	119475218	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:119475218C>T	uc003icb.3	+	7	929	c.845C>T	c.(844-846)cCt>cTt	p.P282L						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		AGAGTCAACCCTGATGGGGAA	0.408												
FGA	2243	broad.mit.edu	37	4	155507575	155507575	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:155507575A>G	uc003iod.1	-	4	1064	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	336					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)	GAGCTCCCAGAGTTCCAGCTT	0.567												
FBXO8	26269	broad.mit.edu	37	4	175180976	175180976	+	Silent	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:175180976C>A	uc003itp.3	-	3	1180	c.330_splice	c.e3-1	p.G110_splice	FBXO8_uc003itq.3_Splice_Site_p.G69_splice	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	110	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATTTGCACAACCTATAAAATC	0.318												
WWC2	80014	broad.mit.edu	37	4	184201980	184201980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:184201980G>C	uc010irx.3	+	16	2796	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	WWC2_uc003ivk.4_Missense_Mutation_p.E667Q|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E554Q|WWC2_uc003ivn.4_Missense_Mutation_p.E387Q|WWC2_uc010irz.3_Missense_Mutation_p.E189Q|WWC2_uc003ivo.4_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	872										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTAGCTGTGgaacaagaatt	0.403												
GFM2	84340	broad.mit.edu	37	5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	rs139234343		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74028894G>A	uc010izj.1	-	16	1962	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	GFM2_uc003kdh.1_Missense_Mutation_p.R514C|GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izk.1_Non-coding_Transcript	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	514					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348												
GFM2	84340	broad.mit.edu	37	5	74041590	74041590	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74041590T>C	uc010izj.1	-	10	1184	c.858A>G	c.(856-858)aaA>aaG	p.K286K	GFM2_uc003kdh.1_Silent_p.K254K|GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCAAAGTCTTTTCCATCAT	0.358												
PCDHGC5	9708	broad.mit.edu	37	5	140774103	140774103	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:140774103G>A	uc003lkd.2	+	0	2621	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V575M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	577	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.657												
ADAMTS2	9509	broad.mit.edu	37	5	178556976	178556976	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178556976G>A	uc003mjw.3	-	15	2516	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	805	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTCTGCAGCGTCTCCCGGCC	0.607												
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607												
TREML2	79865	broad.mit.edu	37	6	41162491	41162491	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:41162491G>A	uc010jxm.1	-	2	636	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	153					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGAGGTAGGGGCTTGGCCA	0.542												
DEFB110	245913	broad.mit.edu	37	6	49976918	49976918	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:49976918G>T	uc011dwr.2	-	1	168	c.122C>A	c.(121-123)aCg>aAg	p.T41K		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	44					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCACAAAACGTTTTACATAT	0.333												
FAM83B	222584	broad.mit.edu	37	6	54791195	54791195	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:54791195T>C	uc003pck.3	+	2	587	c.471T>C	c.(469-471)ttT>ttC	p.F157F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	157										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATATATTTACAGATGTGG	0.299												
LAMA2	3908	broad.mit.edu	37	6	129371087	129371087	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:129371087T>A	uc021zfb.1	+	1	242	c.137T>A	c.(136-138)cTt>cAt	p.L46H	LAMA2_uc003qbn.3_Missense_Mutation_p.L46H|LAMA2_uc003qbo.3_Missense_Mutation_p.L46H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	46	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCCTGAATCTTGCTTCTAAT	0.403												
SASH1	23328	broad.mit.edu	37	6	148865365	148865365	+	Missense_Mutation	SNP	G	G	A	rs145411864		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:148865365G>A	uc003qme.1	+	17	3234	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	920							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCTCTGGTCGCGGCCTGTCA	0.517												
PLEKHG1	57480	broad.mit.edu	37	6	151152163	151152163	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:151152163G>A	uc011eem.1	+	14	2181	c.2093G>A	c.(2092-2094)gGg>gAg	p.G698E	PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAACAGAAGGGCAGGAGGAG	0.478												
PLG	5340	broad.mit.edu	37	6	161173177	161173177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:161173177C>T	uc003qtm.4	+	17	2268	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCAAGGAAGCCCAGCTCCCT	0.468												
GAL3ST4	79690	broad.mit.edu	37	7	99758263	99758263	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:99758263C>T	uc003utt.3	-	2	1766	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R188Q|GAL3ST4_uc003utu.3_Missense_Mutation_p.R250Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	250					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTGGGCTCGAGGGCCAGC	0.567												
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs148161726		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:12286307T>C	uc003wvt.4	-	5	577	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	LOC100506990_uc011kxp.1_Intron|FAM86B2_uc003wvq.4_Intron|FAM86B2_uc003wvr.4_Missense_Mutation_p.I16V|FAM86B2_uc010lsn.3_Intron|FAM86B2_uc003wvu.4_Intron|FAM86B2_uc010lso.3_Intron|FAM86B2_uc011kxt.2_Intron|FAM86B2_uc010lsl.3_Intron|FAM86B2_uc011kxu.2_Intron	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN	Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA.	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602												
ASAH1	427	broad.mit.edu	37	8	17916969	17916969	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:17916969C>T	uc003wyn.2	-	11	1167	c.970G>A	c.(970-972)Gat>Aat	p.D324N	ASAH1_uc003wyl.2_Missense_Mutation_p.D308N|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	308					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGCTTAGCATCGAGTCTAGAT	0.398												
DNAJC5B	85479	broad.mit.edu	37	8	66963845	66963845	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:66963845C>T	uc003xvs.1	+	2	354	c.63C>T	c.(61-63)taC>taT	p.Y21Y	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	21	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCTCTATACGAAATTCTTG	0.398												
RNF19A	25897	broad.mit.edu	37	8	101273881	101273881	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:101273881C>T	uc003yjj.1	-	8	1888	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	524					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGCTCCTATTCGATCCATGTG	0.532												
USP9X	8239	broad.mit.edu	37	X	41075440	41075440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chrX:41075440C>T	uc004dfb.3	+	34	6253	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q1874*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1874					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACACAGTGGTCAAGCGAGTGG	0.443												
