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
CELA3B	10136	broad.mit.edu	37	1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:22333423G>A	uc001bfl.3	+	4	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	139	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.V139I(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGATGCCGTCCAGCTCGC	0.627												
EPB41	2035	broad.mit.edu	37	1	29344851	29344851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:29344851G>A	uc001brm.2	+	6	1148	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EPB41_uc001brg.2_Missense_Mutation_p.D132N|EPB41_uc001brh.2_Missense_Mutation_p.D132N|EPB41_uc001brj.2_Missense_Mutation_p.D132N|EPB41_uc001bri.2_Missense_Mutation_p.D306N|EPB41_uc009vtk.2_Missense_Mutation_p.D306N|EPB41_uc001brk.3_Missense_Mutation_p.D341N|EPB41_uc001brl.2_Missense_Mutation_p.D341N|EPB41_uc021okg.1_Missense_Mutation_p.D341N|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.D132N	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	341	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGGAGACTACGACCCAGAACT	0.468												
EIF2C3	192669	broad.mit.edu	37	1	36505436	36505436	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:36505436G>A	uc001bzp.3	+	14	2233	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	EIF2C3_uc001bzq.3_Missense_Mutation_p.V396I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	630	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCCACAGTAAGAGTTCA	0.383												
EPHA10	284656	broad.mit.edu	37	1	38197175	38197175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:38197175C>T	uc009vvi.3	-	6	1657	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	524	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACGTAGCGGGTAGCCGG	0.592												
GBP1	2633	broad.mit.edu	37	1	89525904	89525904	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:89525904G>A	uc001dmx.2	-	2	514	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	98					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGACCCTCGGTGTCCAGCA	0.507												
TXNIP	10628	broad.mit.edu	37	1	145440909	145440909	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:145440909C>T	uc001enn.4	+	6	1337	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TXNIP_uc010oys.2_Silent_p.P277P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	332					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443												
FLG	2312	broad.mit.edu	37	1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:152278855C>T	uc001ezu.1	-	2	8543	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2836	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis			
PRRG4	79056	broad.mit.edu	37	11	32875008	32875008	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:32875008C>T	uc001mtx.3	+	5	877	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.	206	Poly-Pro.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ACCACCACCACCATATCCTGG	0.438												
TRIM49	57093	broad.mit.edu	37	11	89531694	89531694	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:89531694G>A	uc001pdb.3	-	7	1292	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	321	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTTGCAGTGAAATAGGGTA	0.418												
ENO2	2026	broad.mit.edu	37	12	7026819	7026819	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:7026819C>G	uc001qru.1	+	5	607	c.385C>G	c.(385-387)Ccc>Gcc	p.P129A	ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	129					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGAACTGCCCCTGTATCG	0.617												
MLL2	8085	broad.mit.edu	37	12	49448322	49448322	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:49448322C>T	uc001rta.4	-	2	389	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	130					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCAGGTTCTCCTAGGTGGGC	0.557			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
LRRIQ1	84125	broad.mit.edu	37	12	85492269	85492269	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85492269C>T	uc001tac.3	+	11	3135	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	LRRIQ1_uc021rbo.1_Silent_p.G886G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1008										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGTAGAGGGCGTTGAAAATT	0.343												
LRRIQ1	84125	broad.mit.edu	37	12	85546073	85546073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85546073delG	uc001tac.3	+	19	4456	c.4345delG	c.(4345-4347)gaafs	p.E1449fs		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1449										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTAGAAGAAGAATGGCTAGC	0.353												
HCAR1	27198	broad.mit.edu	37	12	123214178	123214178	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:123214178C>T	uc001ucz.3	-	0	952	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	237					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CTAGCAGACACGCTGGGCAGG	0.582												
ZNF10	7556	broad.mit.edu	37	12	133732279	133732279	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732279A>G	uc009zzb.3	+	4	894	c.447A>G	c.(445-447)caA>caG	p.Q149Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.Q149Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	149				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTTGAGGCAAGTGGCATTCA	0.428												
ZNF10	7556	broad.mit.edu	37	12	133732444	133732444	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732444T>A	uc009zzb.3	+	4	1059	c.612T>A	c.(610-612)caT>caA	p.H204Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.H204Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	204				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G203G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAATGGTCATCAGGACAGTT	0.363												
ZNF10	7556	broad.mit.edu	37	12	133732460	133732460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732460A>G	uc009zzb.3	+	4	1075	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S210G	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	210				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGTTGTGCAAGTAACAGTAA	0.358												
POTEG	404785	broad.mit.edu	37	14	19553826	19553826	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19553826G>A	uc001vuz.1	+	0	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	137								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCCGTCGAGAAGATCTG	0.577												
POTEG	404785	broad.mit.edu	37	14	19566060	19566060	+	Silent	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19566060C>G	uc001vuz.1	+	5	1156	c.1104C>G	c.(1102-1104)gtC>gtG	p.V368V	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	368								p.V368F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323												
ADCY4	196883	broad.mit.edu	37	14	24801072	24801072	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:24801072G>A	uc001wow.3	-	3	1010	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.R197R|ADCY4_uc001woy.3_Silent_p.R197R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	197					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCGCAGGGCGCGCTCCATCA	0.667												
SYT16	83851	broad.mit.edu	37	14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:62547865G>A	uc001xfu.1	+	3	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	436	C2 1.							p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562												
C15orf48	84419	broad.mit.edu	37	15	45723253	45723253	+	Missense_Mutation	SNP	G	G	A	rs143173357		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:45723253G>A	uc001zvg.3	+	2	209	c.91G>A	c.(91-93)Gct>Act	p.A31T	C15orf48_uc001zvh.3_Missense_Mutation_p.A31T|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	31						nucleus		p.A31P(2)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413												
CCDC33	80125	broad.mit.edu	37	15	74564064	74564064	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74564064C>T	uc002axo.3	+	5	961	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CCDC33_uc002axp.3_Silent_p.N11N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	392							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGAGTCAACGAGCCCCTGG	0.592												
CCDC33	80125	broad.mit.edu	37	15	74573074	74573074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74573074C>T	uc002axo.3	+	8	1349	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCDC33_uc002axp.3_Missense_Mutation_p.R141C	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	522	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTAAAGAGCCGTTTGTACCA	0.612												
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:31374348C>T	uc002ebt.3	+	12	1519	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_uc002ebu.1_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677												
MYLK3	91807	broad.mit.edu	37	16	46755087	46755087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:46755087C>T	uc002eei.4	-	8	2049	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	MYLK3_uc010vge.2_Missense_Mutation_p.V304I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	645	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V724I(1)|p.V645I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCTGATTGACGCACAATATG	0.448												
SLC2A4	6517	broad.mit.edu	37	17	7187697	7187697	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:7187697G>A	uc002gfp.3	+	6	927	c.727_splice	c.e6+1	p.S243_splice	SLC2A4_uc010cmd.3_Splice_Site|SLC2A4_uc021tpa.1_Splice_Site_p.S233_splice	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	243					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGAAAGAGTAAGCTCT	0.632												
MYOCD	93649	broad.mit.edu	37	17	12666835	12666835	+	Silent	SNP	G	G	A	rs149918258		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:12666835G>A	uc002gno.2	+	13	3134	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P	MYOCD_uc002gnn.2_Silent_p.P897P|MYOCD_uc002gnq.2_Silent_p.P621P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	897					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCTCACTCCGCCAAATTCCA	0.512												
KCNJ18	3768	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:21319341C>T	uc021tss.1	+	2	1057	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ18_uc002gyv.1_Silent_p.R229R|KCNJ18_uc021tst.1_Silent_p.R229R	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	229						integral to membrane	inward rectifier potassium channel activity	p.R229R(2)									CCCATGTGCGCGCGCAGCTCA	0.642												
RHBDF2	79651	broad.mit.edu	37	17	74473065	74473065	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:74473065C>T	uc002jrq.2	-	8	1343	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	RHBDF2_uc021udh.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	350					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GATGCGCTTGCCGCGCCGGGG	0.647												
POLI	11201	broad.mit.edu	37	18	51809324	51809324	+	Missense_Mutation	SNP	G	G	A	rs146107490		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr18:51809324G>A	uc002lfj.4	+	5	982	c.914G>A	c.(913-915)cGt>cAt	p.R305H	POLI_uc010xds.2_Missense_Mutation_p.R226H|POLI_uc002lfk.4_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	305					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTTGCTCAGCGTATCCAAAAG	0.393								DNA polymerases (catalytic subunits)				
ZNF77	58492	broad.mit.edu	37	19	2933838	2933838	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:2933838C>T	uc002lws.4	-	3	1418	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTATGCGTCCTCACGT	0.512												
TJP3	27134	broad.mit.edu	37	19	3735631	3735631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:3735631C>T	uc010xhv.2	+	7	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	TJP3_uc010xhs.2_Missense_Mutation_p.R352W|TJP3_uc010xht.2_Missense_Mutation_p.R316W|TJP3_uc010xhu.2_Missense_Mutation_p.R361W|TJP3_uc010xhw.2_Missense_Mutation_p.R371W	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	366						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGAGCAACGGTCAGGTGG	0.602												
SH2D3A	10045	broad.mit.edu	37	19	6760704	6760704	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:6760704G>A	uc002mft.3	-	2	558	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	122					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTAAAGCTGCGTCGCAGAGGC	0.612												
FBN3	84467	broad.mit.edu	37	19	8154483	8154483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:8154483G>A	uc002mjf.3	-	49	6339	c.6322C>T	c.(6322-6324)Cgc>Tgc	p.R2108C	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2108	EGF-like 33; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCACAGCGGAAGGATCCA	0.607												
DDX49	54555	broad.mit.edu	37	19	19030579	19030579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:19030579C>T	uc002nkq.2	+	0	96	c.29C>T	c.(28-30)tCa>tTa	p.S10L	COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	10							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTCGGGCTGTCATCGTGGCTC	0.677												
TSHZ3	57616	broad.mit.edu	37	19	31767726	31767726	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:31767726G>A	uc002nsy.4	-	1	3038	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	991					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGACTGATGTACGTGGAAG	0.488												
VASP	7408	broad.mit.edu	37	19	46027874	46027874	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:46027874A>G	uc002pcg.3	+	10	1345	c.1003A>G	c.(1003-1005)Acg>Gcg	p.T335A	VASP_uc002pci.3_Missense_Mutation_p.T321A	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	335	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAACCCTGCACGCCCAGCTC	0.562												
NT5C1B-RDH14	93034	broad.mit.edu	37	2	18765378	18765378	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:18765378C>T	uc010exr.3	-	4	985	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NT5C1B-RDH14_uc002rcy.3_Silent_p.P349P|NT5C1B-RDH14_uc010yju.2_Silent_p.P289P|NT5C1B-RDH14_uc002rcz.3_Silent_p.P349P|NT5C1B-RDH14_uc010yjw.2_Silent_p.P332P|NT5C1B-RDH14_uc010yjv.2_Silent_p.P366P|NT5C1B-RDH14_uc010exs.3_Silent_p.P351P|NT5C1B-RDH14_uc002rda.3_Silent_p.P289P|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.P141P	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	349					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ACGCCGGGCCCGGGGTCAGGA	0.587												
MYADML	151325	broad.mit.edu	37	2	33952485	33952485	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:33952485A>T	uc002rpb.3	-	0	800	c.358T>A	c.(358-360)Tac>Aac	p.Y120N						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		CGGTTGTGGTACACGTAGGGG	0.627												
TBC1D8	11138	broad.mit.edu	37	2	101650173	101650173	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:101650173C>G	uc010fiv.3	-	9	1737	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TBC1D8_uc010yvw.2_Missense_Mutation_p.V551L|TBC1D8_uc002tau.4_Missense_Mutation_p.V293L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	536	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTCCTCCACCAGATTCCCG	0.542												
SAP130	79595	broad.mit.edu	37	2	128707447	128707447	+	Silent	SNP	G	G	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:128707447G>C	uc010fmd.2	-	17	3003	c.2871C>G	c.(2869-2871)gtC>gtG	p.V957V	SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpp.2_Silent_p.V922V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	922	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTAACCTTTGACCCGGACGT	0.433												
KBTBD10	10324	broad.mit.edu	37	2	170382111	170382111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:170382111A>G	uc002ueu.1	+	5	1803	c.1726A>G	c.(1726-1728)Aaa>Gaa	p.K576E	KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	576					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AGATGATAAAAAAGAATGGGC	0.373												
TTN	7273	broad.mit.edu	37	2	179419816	179419816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:179419816G>A	uc021vsy.1	-	279	80891	c.80666C>T	c.(80665-80667)tCt>tTt	p.S26889F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20584F|TTN_uc021vta.1_Missense_Mutation_p.S20517F|TTN_uc021vtb.1_Missense_Mutation_p.S20392F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27816	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTCACAGATGTACCTGC	0.373												
PLCL1	5334	broad.mit.edu	37	2	198966043	198966043	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:198966043C>T	uc010fsp.3	+	3	3352	c.2954C>T	c.(2953-2955)gCg>gTg	p.A985V	PLCL1_uc002uuv.4_Missense_Mutation_p.A906V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	985					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGAAATGGCGGACACAGTC	0.343												
COL4A4	1286	broad.mit.edu	37	2	227872085	227872085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:227872085G>A	uc021vxr.1	-	46	5130	c.5029C>T	c.(5029-5031)Cgc>Tgc	p.R1677C	COL4A4_uc021vxs.1_Missense_Mutation_p.R1674C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1677	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R1677C(2)|p.Q1676K(1)		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)		ATTTTCTGGCGTTGGGCCTGG	0.493												
CSE1L	1434	broad.mit.edu	37	20	47688965	47688965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:47688965C>T	uc002xty.3	+	8	1045	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CSE1L_uc010zyg.2_Missense_Mutation_p.T87M|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	304					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTAGTTACAACGGGTCAAGAG	0.383												
UCKL1	54963	broad.mit.edu	37	20	62571796	62571796	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:62571796C>T	uc010gkn.3	-	12	1420	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	UCKL1_uc011abm.2_Missense_Mutation_p.V434M|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	449					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	p.H448Q(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGAGGATCACGTGGTCATCG	0.677												
KRTAP10-4	386672	broad.mit.edu	37	21	45993777	45993777	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr21:45993777G>A	uc002zfk.1	+	0	172	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	48	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGCTGCTGCGCCCCGGCCCC	0.701												
BPIFC	254240	broad.mit.edu	37	22	32829708	32829708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:32829708G>A	uc003amn.2	-	8	976	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	BPIFC_uc010gwo.2_Missense_Mutation_p.R140W|BPIFC_uc011amb.1_Missense_Mutation_p.R50W	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	326						extracellular region	lipopolysaccharide binding|phospholipid binding	p.R326W(1)									GCACTTACCCGGGAGAGCACG	0.418												
CACNA1I	8911	broad.mit.edu	37	22	40080363	40080363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:40080363G>T	uc003ayc.3	+	35	5887	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.E1843*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1963					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATGCCAGCCGAGTTCTTCCA	0.637												
CSDC2	27254	broad.mit.edu	37	22	41969718	41969718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:41969718C>T	uc003bak.1	+	2	533	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	79	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						TTCTCACGCTCACAGGGCCAT	0.612												
ATP2B2	491	broad.mit.edu	37	3	10387792	10387792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:10387792G>A	uc003bvt.3	-	16	2873	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	ATP2B2_uc003bvv.3_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.3_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.3_Missense_Mutation_p.R517W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	812					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCTGCCGCTGCTCAGTG	0.682												
SLC6A20	54716	broad.mit.edu	37	3	45814090	45814090	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:45814090C>T	uc011bai.2	-	4	724	c.600G>A	c.(598-600)gcG>gcA	p.A200A	SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	200					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGCAGTGACGCCGTGAAAT	0.597												
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657												
SULT1B1	27284	broad.mit.edu	37	4	70599914	70599914	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:70599914A>G	uc003hen.3	-	4	742	c.444T>C	c.(442-444)aaT>aaC	p.N148N		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	148					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGCTGTAAATTATTCATTA	0.353												
SEPT11	55752	broad.mit.edu	37	4	77949846	77949846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:77949846G>A	uc011cca.2	+	9	1400	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc003hkj.3_Missense_Mutation_p.E340K			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	340					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GAAAGAAGAAGAAATGAGACA	0.403												
FAT1	2195	broad.mit.edu	37	4	187541182	187541183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:187541182_187541183insA	uc003izf.3	-	9	6745_6746	c.6557_6558insT	c.(6556-6558)ttcfs	p.F2186fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2186	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTTC	0.510										HNSCC(5;0.00058)		
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:132652162C>T	uc003kyn.1	-	4	810	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	198	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557												
NPM1	4869	broad.mit.edu	37	5	170819769	170819769	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:170819769A>C	uc003mbi.3	+	4	653	c.408A>C	c.(406-408)ttA>ttC	p.L136F	NPM1_uc003mbh.3_Missense_Mutation_p.L136F|NPM1_uc003mbj.3_Missense_Mutation_p.L136F	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	136	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAACTCTTAAGTATATCTG	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""							
NUP153	9972	broad.mit.edu	37	6	17629357	17629357	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:17629357C>T	uc003ncd.1	-	17	3273	c.3073G>A	c.(3073-3075)Ggt>Agt	p.G1025S	NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1025					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACCTGTACCAAAGCTAAAA	0.443												
SLC26A8	116369	broad.mit.edu	37	6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:35923059G>A	uc003olm.3	-	16	2213	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A283V|SLC26A8_uc003oll.3_Missense_Mutation_p.A596V|SLC26A8_uc003oln.3_Missense_Mutation_p.A701V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	701	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502												
FRK	2444	broad.mit.edu	37	6	116263659	116263659	+	Missense_Mutation	SNP	G	G	A	rs142072444		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:116263659G>A	uc003pwi.1	-	7	1883	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	479	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGTCTCAAATGTAGGTCGTTC	0.398												
DFNA5	1687	broad.mit.edu	37	7	24742379	24742379	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:24742379C>T	uc010kus.1	-	9	1345	c.1257_splice	c.e9+1	p.L419_splice	DFNA5_uc003sxa.1_Splice_Site_p.L419_splice|DFNA5_uc010kut.1_Splice_Site_p.L255_splice	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	419					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTACCAAGTGGCACA	0.512												
DPY19L2P1	554236	broad.mit.edu	37	7	35189704	35189704	+	Translation_Start_Site	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:35189704C>T	uc003teq.1	-	6					DPY19L2P1_uc003tep.1_5'Flank|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACTTACAACACGAGGGTCTTT	0.264												
TNS3	64759	broad.mit.edu	37	7	47440469	47440469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:47440469C>T	uc003tnw.3	-	13	1124	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	256	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAAAATGACGTCACGGGTG	0.567												
TFPI2	7980	broad.mit.edu	37	7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	rs12669450		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:93516148C>T	uc003umy.1	-	4	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328												
NRF1	4899	broad.mit.edu	37	7	129357140	129357140	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129357140G>A	uc003vpa.3	+	8	1267	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	NRF1_uc003voz.3_Missense_Mutation_p.A383T|NRF1_uc011kpa.2_Missense_Mutation_p.A222T|NRF1_uc003vpb.3_Missense_Mutation_p.A383T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	383	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCGGTGGCATCGTTGGC	0.567												
ZC3HC1	51530	broad.mit.edu	37	7	129662254	129662254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129662254C>T	uc003vpi.3	-	8	1372	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ZC3HC1_uc010lma.3_Missense_Mutation_p.D265N	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	449					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCGCTGGCATCTGGTTCAGTT	0.552												
ABCF2	10061	broad.mit.edu	37	7	150921937	150921937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:150921937G>A	uc003wjo.1	-	2	403	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q98*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	98	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCTTGACCATGAAAG	0.507												
RAB11FIP1	80223	broad.mit.edu	37	8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	rs140686896		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:37732412C>T	uc003xkm.2	-	2	1299	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	415					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557												
IMPAD1	54928	broad.mit.edu	37	8	57878872	57878872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:57878872C>T	uc003xte.4	-	3	972	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	229						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTAGGAAGAGCGGGCTTTCAC	0.423												
MTDH	92140	broad.mit.edu	37	8	98735243	98735243	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:98735243A>G	uc003yhz.3	+	10	1986	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	553					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.N553N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCAAGCAAAATAGTGTGCCT	0.363												
VPS13B	157680	broad.mit.edu	37	8	100732741	100732741	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:100732741G>A	uc003yiv.3	+	37	7012	c.6901G>A	c.(6901-6903)Gac>Aac	p.D2301N	VPS13B_uc003yiw.3_Missense_Mutation_p.D2276N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2301					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTCAGATGACCTACGGAC	0.403												
FBP2	8789	broad.mit.edu	37	9	97333780	97333780	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:97333780G>A	uc004auv.3	-	3	598	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	177					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTGCCCTGTGGAGAGAGCCA	0.567												
ERCC6L2	375748	broad.mit.edu	37	9	98669532	98669532	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:98669532T>G	uc010mry.1	+						ERCC6L2_uc010mrx.1_Non-coding_Transcript|ERCC6L2_uc004avt.4_Nonsense_Mutation_p.L267*|ERCC6L2_uc011lum.2_Intron|ERCC6L2_uc010mrz.3_Nonsense_Mutation_p.L78*			Q5T890	RAD26_HUMAN	Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.						DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ACACTACGCTTATGCCTGGAT	0.303												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900147	112900147	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:112900147T>A	uc004bei.2	+	8	3211	c.3019T>A	c.(3019-3021)Ttt>Att	p.F1007I	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.F544I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	544							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCCAAGTCATTTAGTGATCA	0.542												
SVEP1	79987	broad.mit.edu	37	9	113189912	113189912	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:113189912G>T	uc010mtz.3	-	35	6271	c.5934C>A	c.(5932-5934)aaC>aaA	p.N1978K	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1978	Sushi 10.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAAGTGAAGTTATTCCCCG	0.527											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF883	169834	broad.mit.edu	37	9	115759611	115759611	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:115759611C>T	uc011lwy.2	-	4	2168	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCTCTGATGTCGAATTAGTGA	0.373												
NR5A1	2516	broad.mit.edu	37	9	127262849	127262849	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:127262849C>T	uc004boo.1	-	3	577	c.390G>A	c.(388-390)ccG>ccA	p.P130P	NR5A1_uc022bnh.1_Silent_p.P130P	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	130					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GAGGGGGCGGCGGGGGCACCC	0.697												
P2RY8	286530	broad.mit.edu	37	X	1584460	1584460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:1584460G>A	uc022brv.1	-	0	992	c.992C>T	c.(991-993)aCg>aTg	p.T331M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"""B-ALL, Downs associated ALL"""							
RGAG1	57529	broad.mit.edu	37	X	109694900	109694900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:109694900C>T	uc004eor.2	+	2	1301	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	RGAG1_uc011msr.1_Missense_Mutation_p.T352M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	352										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACTAATGACGGCCCTACCC	0.537