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
FBLIM1	54751	broad.mit.edu	37	1	16101285	16101285	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:16101285T>G	uc001axd.1	+	8	1327	c.884T>G	c.(883-885)TTC>TGC	p.F295C	FBLIM1_uc001axe.1_Missense_Mutation_p.F295C|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.F295C|FBLIM1_uc001axh.1_Missense_Mutation_p.F198C|FBLIM1_uc001axi.1_Missense_Mutation_p.F198C	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	295	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTGGACGACTTCTACAGGTAC	0.622000												
MRTO4	51154	broad.mit.edu	37	1	19583562	19583562	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:19583562T>A	uc001bbs.2	+	4	451	c.196T>A	c.(196-198)TTC>ATC	p.F66I		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	66					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTAGGATGTTCTTTGGCAA	0.537000												
PPIE	10450	broad.mit.edu	37	1	40208945	40208945	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:40208945A>G	uc001cds.1	+	5	302	c.259A>G	c.(259-261)ATT>GTT	p.I87V	PPIE_uc001cdt.1_Missense_Mutation_p.I21V|PPIE_uc010oiy.1_Missense_Mutation_p.I21V|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.I87V|PPIE_uc001cdw.2_Missense_Mutation_p.I87V|PPIE_uc001cdx.1_Missense_Mutation_p.I3V	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	87					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACCAATGAGAATTAAGGAAGG	0.408000												
RBMXL1	494115	broad.mit.edu	37	1	89448701	89448701	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:89448701C>T	uc009wcx.2	-	3	1525	c.809G>A	c.(808-810)CGT>CAT	p.R270H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R270H	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	270							nucleotide binding|RNA binding				0						TGAATAGTCACGATCACGACC	0.468000												
ECM1	1893	broad.mit.edu	37	1	150483401	150483401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483401G>A	uc001eus.2	+	6	634	c.435G>A	c.(433-435)TGG>TGA	p.W145*	ECM1_uc010pce.1_Nonsense_Mutation_p.W74*|ECM1_uc010pcf.1_Nonsense_Mutation_p.W67*|ECM1_uc001eut.2_Nonsense_Mutation_p.W145*|ECM1_uc001euu.2_Nonsense_Mutation_p.W174*|ECM1_uc001euv.2_Nonsense_Mutation_p.W172*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	145					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGAGTCCTGGAATGCAGCCC	0.617000												
ECM1	1893	broad.mit.edu	37	1	150483459	150483459	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483459G>C	uc001eus.2	+	6	692	c.493G>C	c.(493-495)GAT>CAT	p.D165H	ECM1_uc010pce.1_Missense_Mutation_p.D94H|ECM1_uc010pcf.1_Missense_Mutation_p.D87H|ECM1_uc001eut.2_Missense_Mutation_p.D165H|ECM1_uc001euu.2_Missense_Mutation_p.D194H|ECM1_uc001euv.2_Missense_Mutation_p.D192H|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	165	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCACCGGCTGGATGGCTTCCC	0.602000												
ECM1	1893	broad.mit.edu	37	1	150483497	150483497	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483497G>A	uc001eus.2	+	6	730	c.531G>A	c.(529-531)CTG>CTA	p.L177L	ECM1_uc010pce.1_Silent_p.L106L|ECM1_uc010pcf.1_Silent_p.L99L|ECM1_uc001eut.2_Silent_p.L177L|ECM1_uc001euu.2_Silent_p.L206L|ECM1_uc001euv.2_Silent_p.L204L|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	177	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGACAATCTGAACCAAATCT	0.617000												
ECM1	1893	broad.mit.edu	37	1	150483588	150483588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483588G>A	uc001eus.2	+	6	821	c.622G>A	c.(622-624)GAG>AAG	p.E208K	ECM1_uc010pce.1_Missense_Mutation_p.E137K|ECM1_uc010pcf.1_Missense_Mutation_p.E130K|ECM1_uc001eut.2_Missense_Mutation_p.E208K|ECM1_uc001euu.2_Missense_Mutation_p.E237K|ECM1_uc001euv.2_Missense_Mutation_p.E235K|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	208	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGCCAGGGTGAGACCCTCAA	0.537000												
ECM1	1893	broad.mit.edu	37	1	150484238	150484238	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150484238G>A	uc001eus.2	+	7	1213	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Silent_p.L367L|ECM1_uc001euv.2_Silent_p.L365L|ECM1_uc009wlu.2_Silent_p.L98L	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	338	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCTGGCACTGATCCAGCTGG	0.602000												
ECM1	1893	broad.mit.edu	37	1	150484301	150484301	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150484301G>T	uc001eus.2	+	7	1276	c.1077G>T	c.(1075-1077)TGG>TGT	p.W359C	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.W388C|ECM1_uc001euv.2_Missense_Mutation_p.W386C|ECM1_uc009wlu.2_Missense_Mutation_p.W119C	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	359	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGTACATGGAAGGCCGTAA	0.612000												
ATP8B2	57198	broad.mit.edu	37	1	154316453	154316453	+	Missense_Mutation	SNP	C	C	T	rs140373193	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:154316453C>T	uc001fex.2	+	18	1942	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	634	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTGAGCGACGCCTCCAGGC	0.627000												
QSOX1	5768	broad.mit.edu	37	1	180158716	180158716	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:180158716C>G	uc001gnz.2	+	9	1122	c.1047C>G	c.(1045-1047)AAC>AAG	p.N349K	QSOX1_uc001gny.2_Missense_Mutation_p.N349K|QSOX1_uc001goa.2_Missense_Mutation_p.N349K	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	349					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TAGTCCAGAACTTCCTGCACT	0.502000												
ZNF33B	7582	broad.mit.edu	37	10	43127820	43127820	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr10:43127820C>G	uc001jaf.1	-	3	192	c.77G>C	c.(76-78)TGG>TCG	p.W26S	ZNF33B_uc009xmg.1_Missense_Mutation_p.W26S|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_5'UTR	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	26	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAGGTGCTGCCACTCCTCCTG	0.468000												
ARFIP2	23647	broad.mit.edu	37	11	6499103	6499103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:6499103G>A	uc001mdk.2	-	7	852	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ARFIP2_uc001mdl.2_Nonsense_Mutation_p.R239*|ARFIP2_uc010ral.1_Nonsense_Mutation_p.R201*|ARFIP2_uc010ram.1_Nonsense_Mutation_p.R145*|ARFIP2_uc010ran.1_Nonsense_Mutation_p.R272*|ARFIP2_uc001mdm.2_RNA	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	239	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGTCTGTTCGGTAGGCATCA	0.547000												
OR2AG2	338755	broad.mit.edu	37	11	6789325	6789325	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:6789325G>A	uc001meq.1	-	1	864	c.864C>T	c.(862-864)CTC>CTT	p.L288L		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTGTAGATGAGTGGATTCA	0.498000												
IMMP1L	196294	broad.mit.edu	37	11	31484782	31484782	+	Silent	SNP	G	G	C	rs150556583	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:31484782G>C	uc001msy.1	-	3	238	c.42C>G	c.(40-42)GGC>GGG	p.G14G	IMMP1L_uc001msz.1_Silent_p.G14G|IMMP1L_uc009yjo.2_Silent_p.G14G|IMMP1L_uc009yjp.2_Intron	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	14					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					GAATAGTATAGCCAACAAGTC	0.363000												
OR4C15	81309	broad.mit.edu	37	11	55322167	55322167	+	Missense_Mutation	SNP	G	G	C	rs137989357	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:55322167G>C	uc010rig.1	+	1	385	c.385G>C	c.(385-387)GTC>CTC	p.V129L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTCTCATCTGTCATCACCCC	0.468000										HNSCC(20;0.049)		
RDX	5962	broad.mit.edu	37	11	110106915	110106915	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:110106915G>A	uc001pku.2	-	12	1563	c.1253C>T	c.(1252-1254)GCA>GTA	p.A418V	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.A418V|RDX_uc009yxz.2_Missense_Mutation_p.A71V|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'UTR|RDX_uc001pkt.2_Missense_Mutation_p.A72V|RDX_uc010rwe.1_Missense_Mutation_p.A282V	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	418	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AAGTTCTGCTGCCTAAAGTAA	0.328000												
APLP2	334	broad.mit.edu	37	11	130011397	130011397	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:130011397T>C	uc010sby.1	+	16	2121	c.1964T>C	c.(1963-1965)ATT>ACT	p.I655T	APLP2_uc001qfp.2_Missense_Mutation_p.I643T|APLP2_uc001qfq.2_Missense_Mutation_p.I587T|APLP2_uc010sbz.1_Missense_Mutation_p.I443T|APLP2_uc001qfr.2_Missense_Mutation_p.I409T|APLP2_uc001qfs.2_Missense_Mutation_p.I414T|APLP2_uc001qfv.2_Missense_Mutation_p.I546T|APLP2_uc009zcv.2_Missense_Mutation_p.I3T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	655	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTTCAGGTCATTGACGAGACT	0.493000												
OPCML	4978	broad.mit.edu	37	11	133402211	133402211	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:133402211A>T	uc001qgu.2	-	1	193	c.9T>A	c.(7-9)CAT>CAA	p.H3Q		NM_001012393	NP_001012393	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	Error:Variant_position_missing_in_Q14982_after_alignment					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTAGGCAGGATGGTACATCT	0.488000												
UNG	7374	broad.mit.edu	37	12	109536374	109536374	+	Silent	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:109536374G>C	uc001tnz.1	+	2	340	c.270G>C	c.(268-270)GTG>GTC	p.V90V	UNG_uc001toa.1_Silent_p.V81V	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	90					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						CCCGCAACGTGCCCGTGGGCT	0.607000								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM			
GCN1L1	10985	broad.mit.edu	37	12	120572458	120572458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:120572458G>A	uc001txo.2	-	52	7094	c.7081C>T	c.(7081-7083)CGG>TGG	p.R2361W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2361	HEAT 21.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCACCCCCCGGTTGGAGTCC	0.597000												
EIF2B1	1967	broad.mit.edu	37	12	124107237	124107237	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:124107237G>A	uc001ufm.2	-	8	842	c.699C>T	c.(697-699)TTC>TTT	p.F233F	EIF2B1_uc001ufn.2_Silent_p.F231F	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	233					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGACAAACTTGAAACTTTCTG	0.423000												
F10	2159	broad.mit.edu	37	13	113783898	113783898	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr13:113783898G>A	uc001vsx.2	+	2	260	c.203G>A	c.(202-204)CGC>CAC	p.R68H	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.R68H|F10_uc001vsz.2_Missense_Mutation_p.R68H	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	68	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGAGGCCCGCGAGGTCTTT	0.592000												
GPHN	10243	broad.mit.edu	37	14	67610161	67610161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr14:67610161G>A	uc001xiy.2	+	17	2853	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	GPHN_uc001xix.2_Missense_Mutation_p.E611K|GPHN_uc010tss.1_Missense_Mutation_p.E624K|GPHN_uc010tst.1_Missense_Mutation_p.E547K|GPHN_uc010tsu.1_Missense_Mutation_p.E501K	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	578	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCCATGGGGGAAAAGGTATG	0.428000			T	MLL	AL							
SIVA1	10572	broad.mit.edu	37	14	105223068	105223068	+	Silent	SNP	C	C	T	rs139604480		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr14:105223068C>T	uc001yph.2	+	3	510	c.441C>T	c.(439-441)TCC>TCT	p.S147S	INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Silent_p.S147S|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.S82S	NM_006427	NP_006418	O15304	SIVA_HUMAN	CD27-binding (Siva) protein isoform 1	147					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding				0		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GCTGCGGCTCCGTGGCCTGTA	0.657000												
PGBD4	161779	broad.mit.edu	37	15	34394921	34394921	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr15:34394921C>G	uc001zho.2	+	1	648	c.189C>G	c.(187-189)AGC>AGG	p.S63R	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	63											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATGGAAAGAGCTCTACATCAA	0.398000												
PDP2	57546	broad.mit.edu	37	16	66919617	66919617	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr16:66919617A>G	uc002eqk.1	+	2	1592	c.1430A>G	c.(1429-1431)CAT>CGT	p.H477R		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	477					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGATCAGACATGCCATCGGG	0.597000												
ZCCHC14	23174	broad.mit.edu	37	16	87445923	87445923	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr16:87445923C>T	uc002fjz.1	-	12	2020	c.1993G>A	c.(1993-1995)GTG>ATG	p.V665M	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.V441M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	665					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCAGGGGGCACACTTATTTGC	0.537000												
SCARF1	8578	broad.mit.edu	37	17	1542118	1542118	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:1542118C>T	uc002fsz.1	-	8	1396	c.1346G>A	c.(1345-1347)CGA>CAA	p.R449Q	SCARF1_uc002fsy.1_Missense_Mutation_p.R449Q|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R363Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	449	Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGGTCTGATCGGGGGGCCCA	0.667000												
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:7578265A>T	uc002gim.2	-	6	778	c.584T>A	c.(583-585)ATC>AAC	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.2_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.1_Missense_Mutation_p.I156N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SEBOX	645832	broad.mit.edu	37	17	26692243	26692243	+	Silent	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:26692243C>G	uc010wai.1	-	1	23	c.9G>C	c.(7-9)GGG>GGC	p.G3G	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Intron|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	3					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCACACCAGACCCCCCCATTT	0.617000												
KIAA0100	9703	broad.mit.edu	37	17	26970287	26970287	+	Silent	SNP	C	C	T	rs139655833		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:26970287C>T	uc002hbu.2	-	4	390	c.291G>A	c.(289-291)ACG>ACA	p.T97T	KIAA0100_uc002hbv.2_Silent_p.T97T|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	97						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCTGTAGGTCCGTTCTGATAC	0.502000												
SUPT6H	6830	broad.mit.edu	37	17	27014416	27014416	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:27014416C>T	uc002hby.2	+	23	3023	c.2933C>T	c.(2932-2934)GCC>GTC	p.A978V	SUPT6H_uc010crt.2_Missense_Mutation_p.A978V|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	978					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CGTGCCATTGCCCACCCTTAC	0.522000												
KRTAP4-2	85291	broad.mit.edu	37	17	39334187	39334187	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:39334187C>T	uc002hwd.2	-	1	274	c.230G>A	c.(229-231)CGT>CAT	p.R77H		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	77	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|13.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGACGGCAGCAGGT	0.667000												
FMNL1	752	broad.mit.edu	37	17	43320550	43320550	+	Silent	SNP	C	C	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:43320550C>A	uc002iin.2	+	17	2276	c.2076C>A	c.(2074-2076)CTC>CTA	p.L692L	FMNL1_uc002iiq.2_Silent_p.L270L|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	692	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GCCTGGACCTCAGCGCTCTCA	0.597000												
YES1	7525	broad.mit.edu	37	18	736827	736827	+	Silent	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr18:736827A>G	uc002kky.2	-	10	1493	c.1272T>C	c.(1270-1272)AAT>AAC	p.N424N	YES1_uc002kkz.2_Silent_p.N424N	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	424	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	CTGTGTATTCATTGTCTTCAA	0.348000												
SIPA1L3	23094	broad.mit.edu	37	19	38573204	38573204	+	Silent	SNP	G	G	A	rs149728646	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:38573204G>A	uc002ohk.2	+	3	1508	c.999G>A	c.(997-999)CCG>CCA	p.P333P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	333					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAGCAGGCCGTGGGTGTGTC	0.682000												
SARS2	54938	broad.mit.edu	37	19	39412044	39412044	+	Missense_Mutation	SNP	C	C	T	rs141084630		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:39412044C>T	uc002oka.2	-	5	737	c.577G>A	c.(577-579)GGA>AGA	p.G193R	SARS2_uc002ojz.2_Missense_Mutation_p.G3R|SARS2_uc010xup.1_Missense_Mutation_p.G195R|SARS2_uc002okb.2_Missense_Mutation_p.G193R|SARS2_uc010xuq.1_Missense_Mutation_p.G193R|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	193					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGCTTGTCTCCGACCATGTGG	0.692000												
ZNF222	7673	broad.mit.edu	37	19	44537105	44537105	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:44537105A>C	uc002oyc.2	+	4	1461	c.1278A>C	c.(1276-1278)AAA>AAC	p.K426N	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.K466N|ZNF222_uc002oyd.2_Missense_Mutation_p.K372N	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				ACCCATCCAAATGTGAGGACT	0.338000												
ZNF229	7772	broad.mit.edu	37	19	44933480	44933480	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:44933480G>C	uc002oze.1	-	6	1910	c.1476C>G	c.(1474-1476)GAC>GAG	p.D492E	ZNF229_uc010ejk.1_Missense_Mutation_p.D146E|ZNF229_uc010ejl.1_Missense_Mutation_p.D486E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	492	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TGCCACACTTGTCACACTGGT	0.527000												
ZNF611	81856	broad.mit.edu	37	19	53208636	53208636	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:53208636T>C	uc002pzz.2	-	7	1989	c.1672A>G	c.(1672-1674)AGA>GGA	p.R558G	ZNF611_uc010eqc.2_Missense_Mutation_p.R488G|ZNF611_uc010ydo.1_Missense_Mutation_p.R488G|ZNF611_uc010ydr.1_Missense_Mutation_p.R489G|ZNF611_uc010ydp.1_Missense_Mutation_p.R558G|ZNF611_uc010ydq.1_Missense_Mutation_p.R558G|ZNF611_uc002qaa.3_Missense_Mutation_p.R488G	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	558	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTATGAATTCTAGTATGTTTT	0.408000												
NBAS	51594	broad.mit.edu	37	2	15607529	15607529	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:15607529A>G	uc002rcc.1	-	19	2047	c.2021T>C	c.(2020-2022)TTG>TCG	p.L674S	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	674										ovary(2)|liver(1)|skin(1)	4						TTCCAGTGTCAACCTGTTTTG	0.333000												
GDF7	151449	broad.mit.edu	37	2	20870856	20870856	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:20870856G>A	uc002rdz.1	+	2	1600	c.1024G>A	c.(1024-1026)GGG>AGG	p.G342R		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	342					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccggggccacgggcgcagggg	0.552000												
DNAJC5G	285126	broad.mit.edu	37	2	27500827	27500827	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:27500827C>T	uc002rjl.1	+	4	737	c.319C>T	c.(319-321)CAC>TAC	p.H107Y	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.H107Y	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	107					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTATGATCACTTTGGTGA	0.398000												
ACTR1B	10120	broad.mit.edu	37	2	98275089	98275089	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:98275089G>A	uc002syb.2	-	6	666	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	153						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CACTCCTGTCGTGCGTCCTGT	0.612000												
NCK2	8440	broad.mit.edu	37	2	106497824	106497824	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:106497824G>A	uc002tdg.2	+	4	709	c.267G>A	c.(265-267)GCG>GCA	p.A89A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A89A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	89					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.D89Y(1)		ovary(1)|lung(1)	2						CGCGGGATGCGTCCCCCACGC	0.672000												
ST6GAL2	84620	broad.mit.edu	37	2	107460276	107460276	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:107460276G>A	uc002tdq.2	-	2	277	c.158C>T	c.(157-159)CCG>CTG	p.P53L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P53L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P53L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	53	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCCCTGCACCGGCAGGAGCCT	0.682000												
TTN	7273	broad.mit.edu	37	2	179408680	179408680	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:179408680G>C	uc010zfg.1	-	295	88711	c.88487C>G	c.(88486-88488)ACT>AGT	p.T29496S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T23191S|TTN_uc010zfi.1_Missense_Mutation_p.T23124S|TTN_uc010zfj.1_Missense_Mutation_p.T22999S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30423							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCTCTCAGTGGTGTCAAT	0.458000												
SMARCAL1	50485	broad.mit.edu	37	2	217285091	217285091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:217285091C>A	uc002vgc.3	+	5	1262	c.932C>A	c.(931-933)TCA>TAA	p.S311*	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.S311*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.S311*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	311					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCAGCGAGTCACCCTCCACC	0.572000									Schimke_Immuno-Osseous_Dysplasia			
COL6A3	1293	broad.mit.edu	37	2	238303696	238303696	+	Silent	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:238303696G>C	uc002vwl.2	-	3	528	c.243C>G	c.(241-243)GTC>GTG	p.V81V	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.V81V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	81	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTTGAACTGGACCAGAGCAA	0.393000												
INSM1	3642	broad.mit.edu	37	20	20349829	20349829	+	Silent	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr20:20349829C>T	uc002wrx.2	+	1	1065	c.918C>T	c.(916-918)TGC>TGT	p.C306C		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	306	C2H2-type 2.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		TCTTCAGCTGCCCGGCCAACC	0.562000												
RAE1	8480	broad.mit.edu	37	20	55949845	55949845	+	Silent	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr20:55949845C>T	uc002xyg.2	+	11	1349	c.1008C>T	c.(1006-1008)TAC>TAT	p.Y336Y	RAE1_uc010gis.1_Silent_p.Y289Y|RAE1_uc010git.1_Silent_p.Y336Y|RAE1_uc002xyh.2_Silent_p.Y336Y|RAE1_uc002xyi.2_Silent_p.Y336Y	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	336					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CTTCCAGCTACGACTGGTCAA	0.368000												
DSCAM	1826	broad.mit.edu	37	21	42080394	42080394	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr21:42080394A>G	uc002yyq.1	-	2	799	c.347T>C	c.(346-348)GTC>GCC	p.V116A	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	116	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTGATGTGGACATCCTGACT	0.423000												
ARVCF	421	broad.mit.edu	37	22	19967629	19967629	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr22:19967629A>T	uc002zqz.2	-	6	1304	c.1033T>A	c.(1033-1035)TCA>ACA	p.S345T	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	345					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CTATCCACTGAGGGCGAGCGC	0.731000												
KCNJ4	3761	broad.mit.edu	37	22	38823654	38823654	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr22:38823654C>T	uc003avs.1	-	2	581	c.484G>A	c.(484-486)GTC>ATC	p.V162I	KCNJ4_uc003avt.1_Missense_Mutation_p.V162I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	162	Helical; Name=M2; (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GAGTCGATGACGCAGCCCACG	0.622000												
RRP9	9136	broad.mit.edu	37	3	51969657	51969657	+	Missense_Mutation	SNP	G	G	A	rs140029162	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:51969657G>A	uc003dbw.1	-	9	826	c.787C>T	c.(787-789)CGC>TGC	p.R263C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	263	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602000												
DNAH1	25981	broad.mit.edu	37	3	52426963	52426963	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:52426963G>A	uc011bef.1	+	65	10657	c.10396G>A	c.(10396-10398)GTG>ATG	p.V3466M	DNAH1_uc003ddv.2_Missense_Mutation_p.V324M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3531					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTGGCCAACGTGGACCCCAT	0.582000												
RG9MTD1	54931	broad.mit.edu	37	3	101283802	101283802	+	Silent	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:101283802A>G	uc003duz.2	+	2	325	c.177A>G	c.(175-177)GAA>GAG	p.E59E		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	59					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						CCCCTTCTGAAGAGCTAGAGT	0.373000												
PARP14	54625	broad.mit.edu	37	3	122419782	122419782	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:122419782C>T	uc003efq.3	+	6	2440	c.2381C>T	c.(2380-2382)TCT>TTT	p.S794F	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.S511F|PARP14_uc003efs.1_Missense_Mutation_p.S511F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	794	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AAGTGCTTCTCTCGGACAGTC	0.512000												
DGKG	1608	broad.mit.edu	37	3	185997678	185997678	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:185997678T>C	uc003fqa.2	-	9	1291	c.754A>G	c.(754-756)ACC>GCC	p.T252A	DGKG_uc003fqb.2_Missense_Mutation_p.T252A|DGKG_uc003fqc.2_Missense_Mutation_p.T252A|DGKG_uc011brx.1_Missense_Mutation_p.T252A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	252	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AATGGGATGGTGGTCATCCCT	0.502000												
NDST3	9348	broad.mit.edu	37	4	118975431	118975431	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:118975431C>G	uc003ibx.2	+	2	769	c.366C>G	c.(364-366)GAC>GAG	p.D122E	NDST3_uc011cgf.1_Missense_Mutation_p.D122E|NDST3_uc003ibw.2_Missense_Mutation_p.D122E	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	122	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TGCTTATAGACAAAATGAAAG	0.338000												
TNIP3	79931	broad.mit.edu	37	4	122071373	122071373	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:122071373G>A	uc010ing.2	-	6	690	c.494C>T	c.(493-495)GCT>GTT	p.A165V	TNIP3_uc010inh.2_Missense_Mutation_p.A165V|TNIP3_uc011cgj.1_Missense_Mutation_p.A223V	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	165	Potential.									ovary(1)	1						ATCCTGAAGAGCCTACGTAAT	0.373000												
VEGFC	7424	broad.mit.edu	37	4	177713378	177713378	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:177713378C>T	uc003ius.1	-	1	518	c.88G>A	c.(88-90)GCC>ACC	p.A30T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	30					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCGAAggcggcggcggcggcg	0.577000												
NSUN2	54888	broad.mit.edu	37	5	6620357	6620357	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:6620357T>C	uc003jdu.2	-	7	742	c.677A>G	c.(676-678)CAT>CGT	p.H226R	NSUN2_uc003jdt.2_5'UTR|NSUN2_uc011cmk.1_Missense_Mutation_p.H191R|NSUN2_uc003jdv.2_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	226						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTTGGCTTGATGGACGAGCAG	0.527000												
SLCO4C1	353189	broad.mit.edu	37	5	101572693	101572693	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:101572693A>C	uc003knm.2	-	13	2331	c.2044T>G	c.(2044-2046)TTC>GTC	p.F682V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	682	Helical; Name=12; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATCCATTGAAGAACATGGTG	0.299000												
SPOCK1	6695	broad.mit.edu	37	5	136328253	136328253	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:136328253C>T	uc003lbo.2	-	6	817	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	SPOCK1_uc003lbp.2_Missense_Mutation_p.R209Q	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	209					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCTTCAGCCGGGAGGCAAG	0.532000												
C1QTNF2	114898	broad.mit.edu	37	5	159781800	159781800	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:159781800G>A	uc003lyd.2	-	2	358	c.354C>T	c.(352-354)GGC>GGT	p.G118G		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	73	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCCGGTCGCCGTCGTGTC	0.652000												
ERGIC1	57222	broad.mit.edu	37	5	172315710	172315710	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:172315710T>G	uc003mbw.3	+	2	223	c.29T>G	c.(28-30)ATC>AGC	p.I10S		NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	10	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTTTGACATCTACAGGAAG	0.577000												
CYP21A2	1589	broad.mit.edu	37	6	31974830	31974830	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:31974830T>C	uc010jtp.2	+	7	810	c.692T>C	c.(691-693)ATA>ACA	p.I231T	CYP21A2_uc011dpb.1_Missense_Mutation_p.I201T			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	230			I -> T (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						AAGCAGGCCATAGAGAAGAGG	0.622000												
ITPR3	3710	broad.mit.edu	37	6	33638124	33638124	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:33638124C>T	uc011drk.1	+	19	2431	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	738	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCTCTTTGCCCGCATGTGCTT	0.607000												
DNAH8	1769	broad.mit.edu	37	6	38950205	38950205	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:38950205T>G	uc003ooe.1	+	84	12867	c.12267T>G	c.(12265-12267)ATT>ATG	p.I4089M	DNAH8_uc003oog.1_Missense_Mutation_p.I538M	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCAGTTTATTCAGAATCACC	0.363000												
GUCA1A	2978	broad.mit.edu	37	6	42146128	42146128	+	Silent	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:42146128C>T	uc003orx.2	+	4	957	c.312C>T	c.(310-312)AAC>AAT	p.N104N	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.N104N	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	104	EF-hand 3.|2 (Potential).				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGATGGCAACGGCTGCATTG	0.602000												
AKAP12	9590	broad.mit.edu	37	6	151672866	151672866	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:151672866C>A	uc011eep.1	+	4	3580	c.3340C>A	c.(3340-3342)CAG>AAG	p.Q1114K	AKAP12_uc003qoe.2_Missense_Mutation_p.Q1114K|AKAP12_uc003qof.2_Missense_Mutation_p.Q1016K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.Q1009K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1114					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTGGTGGGGCAGACCACCCC	0.502000												
NCF1	653361	broad.mit.edu	37	7	74197927	74197927	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:74197927C>A	uc003ubb.2	+	7	704	c.634C>A	c.(634-636)CCC>ACC	p.P212T	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	212	Asp/Glu-rich (highly acidic).|SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						CTTCCTCGAGCCCCTGGACAG	0.637000												
PCLO	27445	broad.mit.edu	37	7	82387999	82387999	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:82387999C>T	uc003uhx.2	-	25	15610	c.15321G>A	c.(15319-15321)ATG>ATA	p.M5107I		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5030	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGGTCTTTTTCATAAACTTCC	0.328000												
GIMAP6	474344	broad.mit.edu	37	7	150324850	150324850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:150324850G>A	uc003whn.2	-	3	1260	c.836C>T	c.(835-837)TCT>TTT	p.S279F	GIMAP6_uc003whm.2_Missense_Mutation_p.S199F	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	279							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTTCCTCAGATTCCTTCTG	0.572000												
RP1L1	94137	broad.mit.edu	37	8	10473978	10473978	+	Silent	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:10473978C>T	uc003wtc.2	-	3	958	c.729G>A	c.(727-729)GGG>GGA	p.G243G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	243					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TTGAAGTCAGCCCAGATAAAG	0.527000												
UBXN2B	137886	broad.mit.edu	37	8	59359985	59359985	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:59359985C>G	uc003xtl.2	+	8	993	c.871C>G	c.(871-873)CCT>GCT	p.P291A		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	291	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						ACAGTCTCGTCCTGAATTTGC	0.333000												
PKIA	5569	broad.mit.edu	37	8	79510755	79510755	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:79510755G>C	uc003yba.2	+	3	660	c.136G>C	c.(136-138)GAT>CAT	p.D46H	PKIA_uc003ybb.2_Missense_Mutation_p.D46H|PKIA_uc010lzo.2_Missense_Mutation_p.D46H	NM_006823	NP_006814	P61925	IPKA_HUMAN	cAMP-dependent protein kinase inhibitor alpha	46							cAMP-dependent protein kinase inhibitor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCAGGTCTTGATATCAACAA	0.413000												
PKHD1L1	93035	broad.mit.edu	37	8	110448585	110448585	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:110448585T>C	uc003yne.2	+	30	3628	c.3524T>C	c.(3523-3525)TTA>TCA	p.L1175S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1175	Extracellular (Potential).|IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTACTGACTTTATCTGGATTT	0.323000										HNSCC(38;0.096)		
SLC30A8	169026	broad.mit.edu	37	8	118183401	118183401	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:118183401G>T	uc003yoh.2	+	7	1188	c.958G>T	c.(958-960)GCT>TCT	p.A320S	SLC30A8_uc010mcz.2_Missense_Mutation_p.A271S|SLC30A8_uc011lia.1_Missense_Mutation_p.A271S|SLC30A8_uc003yog.2_Missense_Mutation_p.A271S	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	320	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCTCATGTTGCTACAGGTCA	0.428000												
TOP1MT	116447	broad.mit.edu	37	8	144399936	144399936	+	Silent	SNP	G	G	A	rs143974988	by1000genomes	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:144399936G>A	uc003yxz.2	-	10	1306	c.1287C>T	c.(1285-1287)AAC>AAT	p.N429N	TOP1MT_uc011lkd.1_Silent_p.N331N|TOP1MT_uc011lke.1_Silent_p.N331N|TOP1MT_uc010mfb.2_Silent_p.N331N|TOP1MT_uc011lkf.1_Silent_p.N224N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	429					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGATGGAGGCGTTGTAGGTCC	0.647000												
CNTLN	54875	broad.mit.edu	37	9	17236494	17236494	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:17236494C>T	uc003zmz.2	+	5	783	c.757C>T	c.(757-759)CGC>TGC	p.R253C	CNTLN_uc003zmx.3_Missense_Mutation_p.R253C|CNTLN_uc003zmy.2_Missense_Mutation_p.R253C|CNTLN_uc010mio.2_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	253						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTAAGTACCCGCTGCACTGA	0.373000												
TRPM3	80036	broad.mit.edu	37	9	73442845	73442845	+	Silent	SNP	G	G	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:73442845G>A	uc004aid.2	-	6	1135	c.891C>T	c.(889-891)AAC>AAT	p.N297N	TRPM3_uc004ahu.2_Silent_p.N127N|TRPM3_uc004ahv.2_Silent_p.N127N|TRPM3_uc004ahw.2_Silent_p.N144N|TRPM3_uc004ahx.2_Silent_p.N144N|TRPM3_uc004ahy.2_Silent_p.N144N|TRPM3_uc004ahz.2_Silent_p.N144N|TRPM3_uc004aia.2_Silent_p.N144N|TRPM3_uc004aib.2_Silent_p.N144N|TRPM3_uc004aic.2_Silent_p.N297N|TRPM3_uc010mor.2_Silent_p.N297N|TRPM3_uc004aie.2_Silent_p.N144N|TRPM3_uc004aif.2_Silent_p.N144N|TRPM3_uc004aig.2_Silent_p.N144N|TRPM3_uc004aii.2_Silent_p.N299N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	297	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CAGTGGTCCCGTTGTCAGCCA	0.473000												
INVS	27130	broad.mit.edu	37	9	102988399	102988399	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:102988399A>G	uc004bap.1	+	4	541	c.329A>G	c.(328-330)AAG>AGG	p.K110R	INVS_uc010mta.1_Missense_Mutation_p.K14R|INVS_uc011lve.1_Missense_Mutation_p.K14R|INVS_uc004bao.1_Missense_Mutation_p.K110R|INVS_uc004baq.1_Missense_Mutation_p.K14R|INVS_uc004bar.1_Missense_Mutation_p.K14R|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	110	ANK 3.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TGGATGCAAAAGGATCTGGAA	0.423000												
FCN1	2219	broad.mit.edu	37	9	137801728	137801728	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:137801728G>T	uc004cfi.2	-	9	989	c.897C>A	c.(895-897)AGC>AGA	p.S299R		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	299	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGGCATAGCTCTCATGGG	0.542000												
HEPH	9843	broad.mit.edu	37	X	65476078	65476078	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:65476078G>C	uc011moz.1	+	17	2871	c.2811G>C	c.(2809-2811)TGG>TGC	p.W937C	HEPH_uc004dwn.2_Missense_Mutation_p.W937C|HEPH_uc004dwo.2_Missense_Mutation_p.W667C|HEPH_uc010nkr.2_Missense_Mutation_p.W745C|HEPH_uc011mpa.1_Missense_Mutation_p.W937C|HEPH_uc010nks.2_Missense_Mutation_p.W226C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	934	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						ATAAGTCTTGGTATTTGGAGG	0.448000												
IGSF1	3547	broad.mit.edu	37	X	130409205	130409205	+	Silent	SNP	G	G	A	rs7879617		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:130409205G>A	uc004ewd.2	-	17	3478	c.3240C>T	c.(3238-3240)GGC>GGT	p.G1080G	IGSF1_uc004ewe.3_Silent_p.G1074G|IGSF1_uc004ewf.2_Silent_p.G1060G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1080	Extracellular (Potential).|Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TCATATTTTCGCCAGGGGCCA	0.527000												
PLXNB3	5365	broad.mit.edu	37	X	153040483	153040483	+	Silent	SNP	C	C	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:153040483C>T	uc004fii.2	+	24	4254	c.4080C>T	c.(4078-4080)GAC>GAT	p.D1360D	PLXNB3_uc010nuk.2_Silent_p.D1383D|PLXNB3_uc011mzd.1_Silent_p.D999D|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1360	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGAGGACGGCCACTGTG	0.687000												
TMEM92	162461	broad.mit.edu	37	17	48356643	48356644	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:48356643_48356644insGG	uc002iqn.1	+	5	484_485	c.454_455insGG	c.(454-456)AGGfs	p.R152fs		NM_153229	NP_694961	Q6UXU6	TMM92_HUMAN	transmembrane protein 92 precursor	152	Cytoplasmic (Potential).					integral to membrane					0						CGGGGATCAGAGGGGCATTGAC	0.589												
ANKAR	150709	broad.mit.edu	37	2	190584318	190584326	+	In_Frame_Del	DEL	AATCTATTA	AATCTATTA	-			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:190584318_190584326delAATCTATTA	uc002uqw.1	+	10	2032_2040	c.2032_2040delAATCTATTA	c.(2032-2040)AATCTATTAdel	p.NLL678del	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	749_751	ARM 1.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCTTAATCAATCTATTAAAAAGTTCCA	0.349												
SMC4	10051	broad.mit.edu	37	3	160143940	160143941	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:160143939_160143940C>CA	uc003fdh.3	+	16	2669_2670	c.2556_2557C>CA	c.(2554-2559)gacaaafs	p.D852fs	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Frame_Shift_Ins_p.D827fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.D852fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.D852fs|SMC4_uc003fdl.3_Frame_Shift_Ins_p.D555fs	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322												
CARD6	84674	broad.mit.edu	37	5	40853094	40853095	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:40853093_40853094G>GT	uc003jmg.3	+	2	1734_1735	c.1659_1660G>GT	c.(1657-1662)gtgtttfs	p.V553fs		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	553					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416												
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338800	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:11338798_11338799G>GA	uc001qzr.1	-	0	745_746	c.745_746C>TC	c.(745-747)tccfs	p.S249fs	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CACTTGTAAGGAAAAAAAATGA	0.421												
TMEM92	162461	broad.mit.edu	37	17	48356644	48356645	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:48356643_48356644A>AGG	uc002iqn.2	+	5	564_565	c.454_455A>AGG	c.(454-456)aggfs	p.R152fs	TMEM92_uc021tzz.1_Frame_Shift_Ins_p.R152fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	152						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CGGGGATCAGAGGGGCATTGAC	0.589