Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	892349	892349	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:892349G>T	ENST00000327044.6	-	4	460	c.411C>A	c.(409-411)ccC>ccA	p.P137P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	137						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGCCCTCTGGGGACTCTGT	0.582													7	164	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9662326	9662326	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:9662326C>A	ENST00000340305.5	+	6	1165	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TMEM201_ENST00000340381.6_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	386						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCGGCCCCGAAGGTCAGA	0.642													4	20	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22157724	22157724	+	Missense_Mutation	SNP	C	C	A	rs144525987		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:22157724C>A	ENST00000374695.3	-	84	11625	c.11546G>T	c.(11545-11547)cGg>cTg	p.R3849L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3849	EGF-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCGGTCCCGACAGGTGGG	0.682													5	125	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24388587	24388587	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:24388587C>A	ENST00000330966.7	-	33	3954	c.3792G>T	c.(3790-3792)ctG>ctT	p.L1264L	MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000374434.3_Silent_p.L1261L|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1261										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCACTCTCCAGACGTTTGT	0.517													6	172	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27878163	27878163	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:27878163G>T	ENST00000374011.2	-	6	1432	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.P155Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	155	Pro-rich.						DNA binding	p.P155Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGGTGCAGGCGGGCGGCTCAG	0.637													5	162	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28203119	28203119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28203119G>T	ENST00000373921.3	+	2	119	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGAGATCTCTGGGAATGAGTG	0.597													8	135	---	---	---	---
DNAJC8	22826	broad.mit.edu	37	1	28530322	28530322	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28530322C>A	ENST00000263697.4	-	8	601	c.575G>T	c.(574-576)aGg>aTg	p.R192M	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	192					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCTTCCCTTTGTCGTTT	0.413													5	87	---	---	---	---
FABP3	2170	broad.mit.edu	37	1	31842339	31842339	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:31842339C>A	ENST00000373713.2	-	2	200	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	47					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		AGAATGTCCCCATTCTTTTCG	0.488													6	175	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36383945	36383945	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:36383945C>A	ENST00000373204.4	+	17	2399	c.2186C>A	c.(2185-2187)cCa>cAa	p.P729Q	AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGTAACATCCCAGCTGGGACC	0.512													8	228	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37948984	37948984	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:37948984C>A	ENST00000373087.6	+	6	1688	c.1572C>A	c.(1570-1572)ccC>ccA	p.P524P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	524	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCCCACCCACATCAGTCC	0.667													6	118	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45297648	45297648	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45297648C>A	ENST00000447098.2	-	4	535	c.524G>T	c.(523-525)cGg>cTg	p.R175L	PTCH2_ENST00000372192.3_Splice_Site_p.R175L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	175				R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375).	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.R175L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GACACTTACCCGCTCAATCAT	0.507									Basal Cell Nevus syndrome				6	171	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45475081	45475081	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45475081C>A	ENST00000372172.4	-	6	1020	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	317	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.G317W(1)|p.G33W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTTGTCCCCTTCACCCCCA	0.532													14	283	---	---	---	---
MROH7-TTC4	100527960	broad.mit.edu	37	1	55144482	55144482	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:55144482C>A	ENST00000414150.2	+	11	2282	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P	MROH7_ENST00000395690.2_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P|MROH7_ENST00000421030.2_Silent_p.P668P																							TCCTGGGGCCCTACAACCCTG	0.577													5	66	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109576	145109576	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:145109576C>A	ENST00000453618.1	+	0	565							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCTGCCTTCCCTAAGACGTT	0.428													10	525	---	---	---	---
RP11-337C18.8	0	broad.mit.edu	37	1	146649722	146649722	+	RNA	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146649722G>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							CGCTGTTCCCGGGCGTGGCGC	0.741													3	21	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463													26	151	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151339248	151339248	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:151339248G>T	ENST00000426705.2	-	6	884	c.740C>A	c.(739-741)gCa>gAa	p.A247E	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A205E|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	205					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.A205E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTGGGAGCTGCCCACTCAGT	0.587													6	194	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428													33	157	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154247929	154247929	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154247929C>A	ENST00000328703.7	+	6	937	c.724C>A	c.(724-726)Cga>Aga	p.R242R	HAX1_ENST00000532105.1_Silent_p.R114R|HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	242	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.R242R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TACAGTAACCCGACACGAAGC	0.493									Kostmann syndrome				5	191	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154317895	154317895	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154317895C>A	ENST00000368489.3	+	23	2667	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	875					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGCGCCTCCTGCTGGTGC	0.532											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	434	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158435737	158435737	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:158435737C>A	ENST00000289451.2	+	1	466	c.386C>A	c.(385-387)cCa>cAa	p.P129Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCTGTAACCCACTGCGCTAC	0.552													7	193	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160097494	160097494	+	Missense_Mutation	SNP	G	G	T	rs121918612		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:160097494G>T	ENST00000361216.3	+	8	990	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	301					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATTCCTGGGGGTCTCCTT	0.577													7	196	---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161693343	161693343	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:161693343C>A	ENST00000367948.2	+	5	454	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	80	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGCAGACACCAGGGGTGTAT	0.592													5	92	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511557	169511557	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:169511557C>A	ENST00000367796.3	-	13	2987	c.2786G>T	c.(2785-2787)tGg>tTg	p.W929L	F5_ENST00000367797.3_Missense_Mutation_p.W924L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	924	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGGTCCTTCCAGGGCCTCAT	0.488													6	144	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184787940	184787940	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:184787940C>A	ENST00000367511.3	-	9	1198	c.1005G>T	c.(1003-1005)gcG>gcT	p.A335A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	335					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCTTTTCTCCGCCGGCTGGG	0.547													5	169	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186275976	186275976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:186275976C>A	ENST00000445192.2	+	7	1170	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367485.4_Silent_p.P282P|PRG4_ENST00000367483.4_Silent_p.P334P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	375	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGTCTGCACCCACCACCCCCA	0.637													6	110	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550822	226550822	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:226550822G>T	ENST00000366794.5	-	21	2969	c.2826C>A	c.(2824-2826)ccC>ccA	p.P942P	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	942	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTGCCCTTGGGTAACTTGC	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	98	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232579422	232579422	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:232579422G>T	ENST00000366630.1	-	11	3721	c.3363C>A	c.(3361-3363)ccC>ccA	p.P1121P	SIPA1L2_ENST00000308942.4_Silent_p.P195P|SIPA1L2_ENST00000262861.4_Silent_p.P1121P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1121					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTGGTTGCTGGGTGAGCTTC	0.493													6	143	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236205549	236205549	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236205549C>A	ENST00000264187.6	-	4	878	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	NID1_ENST00000366595.3_Missense_Mutation_p.G266W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	266	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGGACTCCCAATCTCAAAC	0.547													7	274	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236734959	236734959	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236734959C>A	ENST00000366582.3	-	27	3849	c.3735G>T	c.(3733-3735)caG>caT	p.Q1245H	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1245					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCATATTTCCCTGCTCTTGTG	0.378													5	55	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11718500	11718500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:11718500C>A	ENST00000381486.2	+	6	1015	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	239						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTGCCTTCCCCAGCGAGCC	0.617													6	140	---	---	---	---
KCNK3	3777	broad.mit.edu	37	2	26950700	26950700	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:26950700G>T	ENST00000302909.3	+	2	574	c.449G>T	c.(448-450)cGg>cTg	p.R150L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCATGCGGCGCGCCGAC	0.652													5	102	---	---	---	---
CGREF1	10669	broad.mit.edu	37	2	27324270	27324270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:27324270C>A	ENST00000402394.1	-	6	1097	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	CGREF1_ENST00000260595.5_Missense_Mutation_p.G260W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	260					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCCCAGCTTCCCCT	0.637													9	377	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65299088	65299088	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:65299088C>A	ENST00000377990.2	+	3	1061	c.858C>A	c.(856-858)ccC>ccA	p.P286P	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Silent_p.P286P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	286					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCATCACCCGACCGCCACT	0.577													6	160	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71730401	71730401	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:71730401C>A	ENST00000258104.3	+	4	571	c.294C>A	c.(292-294)tcC>tcA	p.S98S	DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000413539.2_Silent_p.S98S|DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000394120.2_Silent_p.S99S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	98						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTAGTCTGTCCGCCAGCTTCA	0.587													5	138	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74720244	74720244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74720244C>A	ENST00000233623.5	+	13	1466	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	487							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCTCTCCCAGACTCAGAG	0.597													8	167	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74789417	74789417	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74789417C>A	ENST00000290536.5	-	8	1324	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	M1AP_ENST00000358434.2_Intron|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein									p.R403Q(1)									CATCAGTTCCCGCGTGGCCAC	0.587													6	164	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512													12	58	---	---	---	---
KANSL3	55683	broad.mit.edu	37	2	97271200	97271200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:97271200C>A	ENST00000599854.1	-	15	1996	c.1529G>T	c.(1528-1530)aGg>aTg	p.R510M	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.R597M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	623																	CAGCTGAACCCTAAGATCCTC	0.502													6	108	---	---	---	---
RPL31	6160	broad.mit.edu	37	2	101619172	101619172	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:101619172C>A	ENST00000409711.1	+	1	20	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000264258.3_Silent_p.P3P|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P			P62899	RL31_HUMAN	ribosomal protein L31	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGATGGCTCCCGCAAAGAAGG	0.547													4	59	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102456434	102456434	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:102456434C>A	ENST00000413150.2	+	10	982	c.927C>A	c.(925-927)acC>acA	p.T309T	MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000425019.1_Silent_p.T309T|MAP4K4_ENST00000347699.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	309					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGATCGTACCAGGAAGAAGA	0.403													5	82	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128281334	128281334	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:128281334C>A	ENST00000295321.4	-	2	327	c.68G>T	c.(67-69)cGg>cTg	p.R23L	IWS1_ENST00000455721.2_Missense_Mutation_p.R30L|IWS1_ENST00000486662.1_Intron	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	23					transcription, DNA-dependent	nucleus	DNA binding	p.R23L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCCTGAATCCCGTTCATCCTG	0.423													5	239	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141777643	141777643	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:141777643C>A	ENST00000389484.3	-	12	2789	c.1818G>T	c.(1816-1818)gtG>gtT	p.V606V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	606					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATCCAGTCCACAGCAATGC	0.363										TSP Lung(27;0.18)			6	131	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160709826	160709826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:160709826C>A	ENST00000263636.4	-	20	2728	c.2701G>T	c.(2701-2703)Gga>Tga	p.G901*	LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATTCCTCTCCAAATGTCACA	0.358													5	87	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848589	166848589	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:166848589G>T	ENST00000423058.2	-	26	5213	c.5196C>A	c.(5194-5196)ccC>ccA	p.P1732P	SCN1A_ENST00000375405.3_Silent_p.P1721P|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1704P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1732						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTTGAGAATGGGTGCTAGCA	0.458													8	275	---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:175677131C>A	ENST00000409900.3	-	9	1105	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.K264N(1)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443			T	TAF15	extraskeletal myxoid chondrosarcoma								6	121	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179424579	179424579	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179424579C>A	ENST00000589042.1	-	326	86504	c.86280G>T	c.(86278-86280)atG>atT	p.M28760I	TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27119I|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27119	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTCTTCCTCATTTCACTGT	0.458													6	191	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179449161	179449161	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179449161C>A	ENST00000589042.1	-	311	65341	c.65117G>T	c.(65116-65118)tGg>tTg	p.W21706L	TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20065L|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20065	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTTCACCCACAGCAAACT	0.428													5	97	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224746771	224746771	+	Missense_Mutation	SNP	C	C	A	rs144919121		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:224746771C>A	ENST00000233055.4	-	10	1054	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	318						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACAGCCTGCCCGCATTTCCTG	0.512													6	286	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20219807	20219807	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:20219807G>T	ENST00000412997.1	-	4	723	c.372C>A	c.(370-372)ccC>ccA	p.P124P	SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000263753.4_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	124	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CATCACTATTGGGGTCCATTC	0.299													6	109	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38139373	38139373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:38139373C>A	ENST00000308059.6	+	18	2725	c.2704C>A	c.(2704-2706)Ctc>Atc	p.L902I	DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	902					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCAGTCTCCCTCCAGGAAAG	0.597													5	51	---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49294496	49294496	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:49294496C>A	ENST00000438782.1	+	8	1802	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	CCDC36_ENST00000296449.5_Silent_p.P522P|CCDC36_ENST00000452691.2_Silent_p.P522P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	522										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGTCATGCCCAATAAGACAG	0.582													6	148	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598192	52598192	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:52598192G>T	ENST00000356770.4	-	22	3655	c.3653C>A	c.(3652-3654)cCa>cAa	p.P1218Q	PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1250Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q			Q86U86	PB1_HUMAN	polybromo 1	1250	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCATTTTCTGGTATTTCAGT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	98	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342651	65342651	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:65342651C>A	ENST00000402939.2	-	23	3790	c.3791G>T	c.(3790-3792)aGg>aTg	p.R1264M	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTCGGATCCCTTGCGTGTGC	0.592													6	131	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121641932	121641932	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:121641932C>A	ENST00000489711.1	+	10	1301	c.913C>A	c.(913-915)Ctt>Att	p.L305I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	305					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.L305I(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTACTATTCCTTTATATCCC	0.458													7	215	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124951822	124951822	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:124951822G>T	ENST00000360647.4	-	9	2233	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	583					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATTCTCTGACGGGGTGACCTC	0.438													6	126	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147108857	147108857	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:147108857C>A	ENST00000383075.3	-	4	1377	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus	DNA binding|zinc ion binding	p.G289W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGAGCGCCCGTGCACCTTC	0.662													4	72	---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179311582	179311582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:179311582C>A	ENST00000476781.1	-	5	533	c.504G>T	c.(502-504)tgG>tgT	p.W168C	MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	168					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TGTCTCTTCTCCAAGCACCAG	0.438													6	169	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54362300	54362300	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:54362300C>A	ENST00000306888.2	-	5	1203	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C	LNX1_ENST00000263925.7_Missense_Mutation_p.G414C|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	414	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCACACCGCCATCCAGCACA	0.502													6	182	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57829644	57829644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:57829644C>A	ENST00000264230.4	-	7	3306	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	690							GTP binding										TTTCTTCTTCCTCACGTTGTA	0.373													7	207	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84374734	84374734	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:84374734C>A	ENST00000295488.3	-	2	824	c.662G>T	c.(661-663)aGg>aTg	p.R221M	HELQ_ENST00000510985.1_Missense_Mutation_p.R221M	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	221							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCCAATCCCTTTCTTTCAT	0.408								Other identified genes with known or suspected DNA repair function					5	99	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107229970	107229970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:107229970G>T	ENST00000273980.5	-	3	595	c.148C>A	c.(148-150)Cat>Aat	p.H50N	TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000432496.2_Missense_Mutation_p.H50N			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGTCTGGGATGGGTGATGGTT	0.398													6	115	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126237601	126237601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:126237601C>A	ENST00000394329.3	+	1	48	c.35C>A	c.(34-36)cCg>cAg	p.P12Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGGCCGCCCGTGGCTCCCG	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	222	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128635247	128635247	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:128635247G>T	ENST00000335251.6	+	15	2819	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGTAGTAGGGTAAGTGAG	0.338													5	62	---	---	---	---
JADE1	79960	broad.mit.edu	37	4	129778549	129778549	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129778549C>A	ENST00000226319.6	+	8	1201	c.921C>A	c.(919-921)ccC>ccA	p.P307P	PHF17_ENST00000413543.2_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		307					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACACATTCCCAGCAGCCGGT	0.522													8	262	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129809839	129809839	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129809839G>T	ENST00000281142.5	-	20	2502	c.1999C>A	c.(1999-2001)Cag>Aag	p.Q667K	SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	667						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTACCTGCTGGGAAGCTGAA	0.383													6	108	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177069298	177069298	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:177069298G>T	ENST00000393643.2	+	13	1961	c.1709G>T	c.(1708-1710)tGg>tTg	p.W570L	WDR17_ENST00000508596.1_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000280190.4_Missense_Mutation_p.W594L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	594										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCGAATCTGGGATTATACT	0.328													5	126	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178257465	178257465	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:178257465C>A	ENST00000264596.3	+	4	735	c.617C>A	c.(616-618)cCa>cAa	p.P206Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	206					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGTCTCCACCCAGCTGTTAAA	0.403								Base excision repair (BER), DNA glycosylases					5	89	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183522162	183522162	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183522162C>A	ENST00000511685.1	+	4	720	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TENM3_ENST00000406950.2_Silent_p.S199S					teneurin transmembrane protein 3																		ATCATCCATCCATCACTTCTC	0.552													7	235	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714859	183714859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183714859C>A	ENST00000511685.1	+	26	7157	c.7034C>A	c.(7033-7035)cCa>cAa	p.P2345Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q					teneurin transmembrane protein 3																		CTGTATGACCCACTCACCAAA	0.398													6	102	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522													9	60	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983622	31983622	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31983622C>A	ENST00000438447.1	+	3	1226	c.838C>A	c.(838-840)Cat>Aat	p.H280N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N			O15018	PDZD2_HUMAN	PDZ domain containing 2	280					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGACCCCATCTAGAGAG	0.522													5	125	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43294964	43294964	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:43294964C>A	ENST00000325110.6	-	7	1112		c.e7-1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTTAACATCCCTGAAAGATTT	0.323													7	87	---	---	---	---
POC5	134359	broad.mit.edu	37	5	74970301	74970301	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:74970301G>T	ENST00000428202.2	-	12	1876	c.1687C>A	c.(1687-1689)Cag>Aag	p.Q563K	POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	563					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGAGAGACTGGGTGTGAGCT	0.443													6	243	---	---	---	---
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453													24	103	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118483101	118483101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:118483101G>T	ENST00000311085.8	+	17	2927	c.2847G>T	c.(2845-2847)atG>atT	p.M949I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	949										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCAGAAATGGTTTATAGCC	0.363													5	62	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648440	127648440	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:127648440C>A	ENST00000508053.1	-	43	5739	c.4765G>T	c.(4765-4767)Ggg>Tgg	p.G1589W	FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W			P35556	FBN2_HUMAN	fibrillin 2	1589	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGACTCCCATCTCCTCGA	0.557													8	302	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803740	137803740	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:137803740C>A	ENST00000239938.4	+	2	1874	c.1602C>A	c.(1600-1602)acC>acA	p.T534T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	534					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGACAGCAACCTTTTCTCCCA	0.512													6	106	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		282	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393													12	58	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745592	140745592	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140745592C>A	ENST00000518069.1	+	1	1695	c.1695C>A	c.(1693-1695)ccC>ccA	p.P565P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACCCCGCCCTCCCCA	0.612													6	197	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140801620G>T	ENST00000398587.2	+	1	859	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463													5	221	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	146080644	146080644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:146080644C>A	ENST00000394413.3	-	2	702	c.132G>T	c.(130-132)aaG>aaT	p.K44N	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	44					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGACCCCCCTTGTCCCCTG	0.448													10	545	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147486631	147486631	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:147486631G>T	ENST00000359874.3	+	17	1584	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M|SPINK5_ENST00000256084.7_Missense_Mutation_p.R504M	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	504	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGTGAGGAATGGAACA	0.438													6	115	---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172659608	172659608	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:172659608C>A	ENST00000329198.4	-	2	1212	c.939G>T	c.(937-939)tcG>tcT	p.S313S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	313					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGACACTCCCGAGTTGCTCT	0.657													4	50	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397187	397187	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:397187C>A	ENST00000380956.4	+	5	698	c.572C>A	c.(571-573)cCg>cAg	p.P191Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	191					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCGGAAATCCCGTACCAATGT	0.567			T	IGH@	MM								6	143	---	---	---	---
EEF1E1	9521	broad.mit.edu	37	6	8097604	8097604	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:8097604C>A	ENST00000379715.5	-	2	240	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	62	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCAGTACTCCCCAGCAAATAT	0.418													6	135	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16145414	16145414	+	Silent	SNP	C	C	A	rs141183183		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:16145414C>A	ENST00000349606.4	+	5	1075	c.571C>A	c.(571-573)Cgg>Agg	p.R191R	MYLIP_ENST00000356840.3_Silent_p.R372R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	372	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R372R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCAGCAGACCCGGGTGCTGCA	0.582													5	137	---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217532	26217532	+	Silent	SNP	C	C	A	rs16891432		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26217532C>A	ENST00000303910.2	+	1	368	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GTGTCCTGCCCAACATCCAGG	0.572													5	71	---	---	---	---
ZNF322	79692	broad.mit.edu	37	6	26637649	26637649	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26637649G>T	ENST00000415922.2	-	4	1778	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										ACAGACAAACGGTTTTTCACC	0.443													7	394	---	---	---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841267	27841267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:27841267C>A	ENST00000355981.2	-	1	22	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	8					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AGACccttcccgcctttgccg	0.557													4	69	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653707	30653707	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:30653707C>A	ENST00000274853.3	-	1	1965	c.89G>T	c.(88-90)cGg>cTg	p.R30L	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	30						cytoplasm|cytoskeleton	actin binding										CAGGCGCTCCCGTTCTGCTTT	0.677													6	193	---	---	---	---
CFB	629	broad.mit.edu	37	6	31914338	31914338	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:31914338C>A	ENST00000456570.1	+	14	1814	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	CFB_ENST00000425368.2_Missense_Mutation_p.L85M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M			P00751	CFAB_HUMAN	complement factor B	85	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGGAGCACCCTGAAGACTCA	0.577													5	37	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36196700	36196700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:36196700C>A	ENST00000534400.1	+	10	3229	c.3203C>A	c.(3202-3204)cCg>cAg	p.P1068Q	BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000357641.6_Silent_p.R1101R			Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	960					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGATGCCCCGGGAGGGCCT	0.612													6	106	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38980409	38980409	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:38980409C>A	ENST00000359357.3	+	89	13313	c.13059C>A	c.(13057-13059)ccC>ccA	p.P4353P	DNAH8_ENST00000441566.1_Silent_p.P4317P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTTAATCCCCAAGGTATGT	0.378													6	160	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41774513	41774513	+	Missense_Mutation	SNP	C	C	A	rs139687733	by1000genomes	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:41774513C>A	ENST00000394253.3	-	3	538	c.209G>T	c.(208-210)cGg>cTg	p.R70L	USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	70					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R70L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGAGATCCCGGACTTCCAT	0.592													7	164	---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488045	43488045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:43488045G>T	ENST00000372389.3	+	6	623	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	179					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GATCCCCCTGGGGAACCAGGC	0.522													9	156	---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46563765	46563765	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:46563765C>A	ENST00000275016.2	-	8	1227	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	342					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTAATGACACCAGGAGCTTTT	0.353													5	118	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49703267	49703267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49703267C>A	ENST00000433368.2	-	4	365	c.296G>T	c.(295-297)tGg>tTg	p.W99L	CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.W76L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	76					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGTTTGCCCACTTTTGGGC	0.358													6	211	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49704221	49704221	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49704221C>A	ENST00000433368.2	-	3	211		c.e3-1		CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Splice_Site	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGCGGGATCCTAAGGGAAAA	0.363													6	178	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70965065	70965065	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70965065C>A	ENST00000357250.6	-	22	1690	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	511	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCTGCTTCTCCTGGAGGTCC	0.363													6	134	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90460077	90460077	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:90460077C>A	ENST00000369393.3	-	24	3517	c.3402G>T	c.(3400-3402)aaG>aaT	p.K1134N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1134					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTACCTTCCTTAAAGACAA	0.408													6	117	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109867181	109867181	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:109867181C>A	ENST00000424296.2	-	26	3190	c.3114G>T	c.(3112-3114)gtG>gtT	p.V1038V	AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATTCAGGTCCCACTTTCTTTT	0.368													6	105	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116720686	116720686	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:116720686C>A	ENST00000331677.3	+	3	717	c.273C>A	c.(271-273)ccC>ccA	p.P91P	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P|DSE_ENST00000537543.1_Silent_p.P110P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	91					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTGGGATCCCAAGGACTACA	0.562													5	53	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118475607	118475607	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:118475607G>T	ENST00000360388.4	+	2	374		c.e2-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTATTTCTCAGGGAGATGTTA	0.418													6	118	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131939623	131939623	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:131939623C>A	ENST00000403834.3	-	9	877	c.704G>T	c.(703-705)gGt>gTt	p.G235V	MED23_ENST00000368068.3_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000539158.1_Missense_Mutation_p.G235V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	235					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACAAATGGCACCCGAATTATT	0.368													5	27	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139564168	139564168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:139564168G>T	ENST00000358430.3	-	10	1782	c.1550C>A	c.(1549-1551)cCg>cAg	p.P517Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	517						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGACTGGTGCGGGGTTGACTC	0.527													7	215	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143081332	143081332	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:143081332C>A	ENST00000367603.2	-	9	6835	c.6093G>T	c.(6091-6093)gaG>gaT	p.E2031D	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2031D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGAGCTTGGCTCTGAAGGTA	0.483													6	193	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511228	157511228	+	Missense_Mutation	SNP	C	C	A	rs150196933		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157511228C>A	ENST00000346085.5	+	15	3747	c.3746C>A	c.(3745-3747)cCg>cAg	p.P1249Q	ARID1B_ENST00000350026.5_Missense_Mutation_p.P1236Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1236					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P1231Q(1)|p.P1249Q(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCATCCTTCCCGAAACGGAAC	0.512													6	229	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157528693	157528693	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157528693C>A	ENST00000346085.5	+	20	6419	c.6418C>A	c.(6418-6420)Caa>Aaa	p.Q2140K	ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2127K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2127					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAACCTTGCCCAAGGGGACGC	0.498													8	307	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168431490	168431490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:168431490G>T	ENST00000443060.2	+	4	521	c.130G>T	c.(130-132)Gga>Tga	p.G44*	KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	44	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGCGGTCTTTGGAGATGTGTG	0.428													6	129	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2041727	2041727	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2041727C>A	ENST00000406869.1	-	14	1946	c.1389G>T	c.(1387-1389)ctG>ctT	p.L463L	MAD1L1_ENST00000402746.1_Silent_p.L371L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000265854.7_Silent_p.L463L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	463	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGGCCTCCCAGCTCCTCCA	0.627													7	235	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2740198	2740198	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2740198C>A	ENST00000312371.4	+	2	481	c.113C>A	c.(112-114)cCt>cAt	p.P38H	AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	38							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCCTTCTCCCCTGCCGAGCGG	0.667													7	228	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24758794	24758794	+	Translation_Start_Site	SNP	C	C	A	rs78941420		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:24758794C>A	ENST00000545231.1	-	0	1106				DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCATTCCTTCCTTCCAGCACC	0.493													6	128	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104001	53104001	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:53104001C>A	ENST00000408890.4	+	1	653	c.637C>A	c.(637-639)Cgg>Agg	p.R213R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672													5	111	---	---	---	---
FAM133B	257415	broad.mit.edu	37	7	92219586	92219586	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:92219586C>A	ENST00000445716.1	-	1	122	c.20G>T	c.(19-21)cGg>cTg	p.R7L	FAM133B_ENST00000438306.1_5'UTR	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	7										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTCACCACCCGATTGTCCCG	0.697											OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293631	94293631	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:94293631C>A	ENST00000482108.1	+	2	1242	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	PEG10_ENST00000488574.1_Silent_p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	255	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCGCCACCCCGGGCGCTGGT	0.622													4	24	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99457531	99457531	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:99457531C>A	ENST00000354829.2	+	10	1047	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	315			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCACTCTCCCCTTCATTATG	0.463													6	153	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100674448	100674448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:100674448C>A	ENST00000306151.4	+	2	194	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	44						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGCATCTCCCAAGGGGACGT	0.537													6	190	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103234873	103234873	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:103234873G>T	ENST00000428762.1	-	26	3765	c.3606C>A	c.(3604-3606)ccC>ccA	p.P1202P	RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1202					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488													6	283	---	---	---	---
RBM28	55131	broad.mit.edu	37	7	127954917	127954917	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:127954917C>A	ENST00000223073.2	-	17	2059	c.1945G>T	c.(1945-1947)Ggg>Tgg	p.G649W	RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GTCTGGAACCCGGTCCATGAG	0.567													7	305	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134650097	134650097	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:134650097G>T	ENST00000361388.2	+	14	2115	c.1649G>T	c.(1648-1650)tGg>tTg	p.W550L	CALD1_ENST00000361675.2_Missense_Mutation_p.W779L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	779					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGGAACCTCTGGGAAAAGCAA	0.428													7	178	---	---	---	---
SLC37A3	84255	broad.mit.edu	37	7	140043268	140043268	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:140043268C>A	ENST00000326232.9	-	13	1473	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	424					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGACAGTGGCCAAAGCTTCA	0.507													5	101	---	---	---	---
TMUB1	83590	broad.mit.edu	37	7	150779364	150779364	+	Missense_Mutation	SNP	G	G	T	rs146736140		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:150779364G>T	ENST00000392818.3	-	2	644	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	96						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGAGTCCGGGGCTGGCGG	0.647													8	262	---	---	---	---
AGPAT5	55326	broad.mit.edu	37	8	6605324	6605324	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:6605324G>T	ENST00000285518.6	+	6	1032	c.720G>T	c.(718-720)caG>caT	p.Q240H	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	240					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ATGGAGGGCAGCGAAGAGAGT	0.413													8	78	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59720736	59720736	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:59720736C>A	ENST00000361421.1	-	8	1705	c.1485G>T	c.(1483-1485)tcG>tcT	p.S495S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	495						nucleus	DNA binding	p.S495S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCTGCACCCCGAACGCACAT	0.532											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537689	145537689	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145537689C>A	ENST00000528838.1	+	12	1516	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	HSF1_ENST00000400780.4_Silent_p.P393P|HSF1_ENST00000528842.1_3'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	452	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGGCCTCCCGAGGCAGAGA	0.692													6	69	---	---	---	---
GPT	2875	broad.mit.edu	37	8	145730203	145730203	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145730203C>A	ENST00000394955.2	+	3	525	c.302C>A	c.(301-303)cCt>cAt	p.P101H	GPT_ENST00000528431.1_Missense_Mutation_p.P101H	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	101					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAACTTCCCTGACGATGCC	0.657													8	339	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8465565	8465565	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:8465565C>A	ENST00000381196.4	-	29	4158	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L	PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L|PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000486161.1_Silent_p.L794L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1205					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTCATCCCCCAGGGTGAACT	0.433										TSP Lung(15;0.13)			5	101	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842488	14842488	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:14842488G>T	ENST00000380881.4	-	10	2382	c.1567C>A	c.(1567-1569)Ccg>Acg	p.P523T	FREM1_ENST00000380880.3_Missense_Mutation_p.P522T|FREM1_ENST00000422223.2_Missense_Mutation_p.P522T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	522					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGAGGAACGGGGGACTATCA	0.517													6	128	---	---	---	---
MIR31HG	554202	broad.mit.edu	37	9	21512148	21512148	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:21512148C>A	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1																						AGCAGGTTCCCAGTTCAACAG	0.463													5	113	---	---	---	---
STOML2	30968	broad.mit.edu	37	9	35101709	35101709	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:35101709G>T	ENST00000356493.5	-	5	504	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	STOML2_ENST00000452248.2_Silent_p.R148R	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	148						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGCTTACCCGGAAGACTTTG	0.507													6	229	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95263191	95263191	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95263191C>A	ENST00000344604.5	-	9	1898	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	583					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACAAGTATTCCAGGCCTGGTT	0.478													6	118	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95608641	95608641	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95608641C>A	ENST00000395505.2	-	3	2412	c.2320G>T	c.(2320-2322)Ggg>Tgg	p.G774W	ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ZNF484_ENST00000375495.3_Missense_Mutation_p.G810W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGGCTTTCCCCAAGTCACTG	0.428													8	242	---	---	---	---
FRRS1L	23732	broad.mit.edu	37	9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like		DOMON.					integral to membrane											TGCACTCAGCTCAAATTCTAC	0.418													3	112	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130152979	130152979	+	Silent	SNP	C	C	A	rs143165320	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:130152979C>A	ENST00000373387.4	+	27	3155	c.2803C>A	c.(2803-2805)Cgg>Agg	p.R935R	GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	935					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATCAAAACCCCGGAAGCGGTT	0.572													5	169	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131022413	131022413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:131022413C>A	ENST00000421699.2	-	18	1745	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	578						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCAGCTCCCTCTTGACGTG	0.602													7	208	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140379166	140379166	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140379166C>A	ENST00000406427.1	-	21	2556	c.2220G>T	c.(2218-2220)acG>acT	p.T740T	PNPLA7_ENST00000371457.1_Silent_p.T321T|PNPLA7_ENST00000277531.4_Silent_p.T715T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTGCCCTCCGTGGGGAGCC	0.672													3	15	---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509084	140509084	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140509084C>A	ENST00000371421.4	+	7	933	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	290	Pro-rich.									breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACCATGCCCCAGTGAGCCCC	0.662													6	73	---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13494598	13494598	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:13494598C>A	ENST00000341083.3	-	7	1264	c.968G>T	c.(967-969)tGg>tTg	p.W323L	BEND7_ENST00000396900.2_Missense_Mutation_p.W375L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	375	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AATCTGTACCCAATCTCTTGG	0.368													6	131	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:43678849C>A	ENST00000374466.3	+	8	1823	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517													5	190	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46967673	46967673	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:46967673G>T	ENST00000374323.4	-	3	1150	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|SYT15_ENST00000374321.4_Missense_Mutation_p.P135Q|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTTGTCCTCCGGGAACTTGTA	0.627													6	203	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47087380	47087380	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:47087380G>T	ENST00000374312.1	+	3	1016	c.597G>T	c.(595-597)gtG>gtT	p.V199V	NPY4R_ENST00000395716.1_Silent_p.V199V	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		CGGATAAGGTGGTCTGTACCG	0.582													5	133	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64159350	64159350	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:64159350G>T	ENST00000395254.3	+	5	1306	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACCCAAAGGGAAGGAACC	0.562													7	219	---	---	---	---
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318													7	182	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98412456	98412456	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:98412456G>T	ENST00000339364.5	-	4	830	c.711C>A	c.(709-711)ccC>ccA	p.P237P	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	237	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTACTTACTGGGAGCCTTCA	0.458													6	154	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118363546	118363546	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:118363546G>T	ENST00000528052.1	+	11	1139	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	356	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGCAGGCTGGAGATATGGGG	0.438													4	29	---	---	---	---
OAT	4942	broad.mit.edu	37	10	126091508	126091508	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:126091508C>A	ENST00000368845.5	-	7	980	c.888G>T	c.(886-888)ggG>ggT	p.G296G	OAT_ENST00000539214.1_Silent_p.G158G|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	296					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GGTATAAGCCCCCAGAAAGGG	0.408													7	159	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423820	6423820	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:6423820C>A	ENST00000389906.2	-	7	1339	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000609360.1_Missense_Mutation_p.G414W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGCCCCCAGACATGGGG	0.582													6	109	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7656792	7656792	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:7656792G>T	ENST00000299492.4	+	14	1592	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	402					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGTATGGATGGGAACCAGCC	0.423													5	96	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33374937	33374937	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:33374937C>A	ENST00000303296.4	+	17	3776	c.3471C>A	c.(3469-3471)ccC>ccA	p.P1157P	HIPK3_ENST00000525975.1_Silent_p.P1136P|HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000379016.3_Silent_p.P1136P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1157					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCTCCCATCCCAGTGGCATAG	0.502													6	162	---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60688429	60688429	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:60688429C>A	ENST00000227525.3	+	3	712	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TMEM109_ENST00000536171.1_Silent_p.A103A|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	103						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGGGATCGCCGCACAGCTGC	0.537													5	178	---	---	---	---
CHRM1	1128	broad.mit.edu	37	11	62677296	62677296	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:62677296C>A	ENST00000306960.3	-	2	1818	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AAAGGTGTCCCGGAAGGCTTT	0.627													5	203	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64677317	64677317	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64677317G>T	ENST00000421419.2	-	14	2057	c.1943C>A	c.(1942-1944)cCc>cAc	p.P648H	ATG2A_ENST00000377264.3_Missense_Mutation_p.P648H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	648							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTCGGCAATGGGGAAGCGCAG	0.701													5	74	---	---	---	---
ZFPL1	7542	broad.mit.edu	37	11	64853980	64853980	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64853980C>A	ENST00000294258.3	+	4	460	c.308C>A	c.(307-309)cCc>cAc	p.P103H		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	103					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCAATGGCCCCATCTTCCCC	0.647													7	184	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67817721	67817721	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:67817721C>A	ENST00000265686.3	+	18	2344	c.2236C>A	c.(2236-2238)Cag>Aag	p.Q746K	TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	746					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCCCACGCCCGTGAGTGACC	0.672													5	122	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542													21	112	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100962584	100962584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:100962584C>A	ENST00000325455.5	-	3	3266	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*|PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	605					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCATTTCTTCCAGCACATAAG	0.393													4	26	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAAGGGATAAGGAA	0.433													7	226	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733016	116733016	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:116733016C>A	ENST00000375300.1	-	16	1992	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	SIK3_ENST00000292055.4_Missense_Mutation_p.G605W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	605	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTGCCCCCCGTACATCTTC	0.493													6	198	---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117109673	117109673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:117109673C>A	ENST00000531452.1	+	3	510	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	155							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGAAATCCCCACAAACCTCC	0.522													6	71	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996467	120996467	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:120996467C>A	ENST00000392793.1	+	8	1931	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	TECTA_ENST00000264037.2_Missense_Mutation_p.L554M			O75443	TECTA_HUMAN	tectorin alpha	554					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTATGACCTGTGCAGTGT	0.577													6	144	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774677	122774677	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:122774677C>A	ENST00000227349.2	+	3	686	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.P130Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	130										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGCTATGACCCGAACTGGAAG	0.478													8	296	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134046279	134046279	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:134046279C>A	ENST00000534548.2	-	24	3088	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1008					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACAAATTCCTCCTGTGCAG	0.547													5	82	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2921985	2921985	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:2921985C>A	ENST00000228799.2	+	1	198	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	20										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCTCTTCCCGCACGCAATC	0.607													5	154	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6103761	6103761	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6103761C>A	ENST00000261405.5	-	36	6330	c.6076G>T	c.(6076-6078)Ggg>Tgg	p.G2026W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2026	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCAGTCTCCCATTCACCGTC	0.473													5	68	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6961392	6961392	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6961392C>A	ENST00000229268.8	+	1	101	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	USP5_ENST00000389231.5_Silent_p.R17R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	17					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCGACGATCCGGGTCCCTAA	0.642													4	36	---	---	---	---
GPD1	2819	broad.mit.edu	37	12	50497833	50497833	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:50497833C>A	ENST00000301149.3	+	0	232				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GACGCGGCACCATGGCTAGCA	0.602													6	148	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52979802	52979802	+	Silent	SNP	C	C	A	rs149656096		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52979802C>A	ENST00000293745.2	-	9	1585	c.1500G>T	c.(1498-1500)tcG>tcT	p.S500S	KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000537672.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	500	Tail.					keratin filament	structural molecule activity	p.S500S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCTGCTCCCCGAGGTTTTGG	0.557													7	228	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52984711	52984711	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52984711C>A	ENST00000293745.2	-	6	1083	c.998G>T	c.(997-999)gGg>gTg	p.G333V	KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000537672.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	333	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GAGGTCATCCCCATGCTGGCC	0.537													5	82	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379100	54379100	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:54379100C>A	ENST00000303460.4	+	1	131	c.57C>A	c.(55-57)ccC>ccA	p.P19P	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	19					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TGGCTGCGCCCGGCGGAGGAG	0.597													5	159	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56536108	56536108	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:56536108C>A	ENST00000394048.5	+	25	2896	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000550878.1_Intron	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	878						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCATTATCCCTGCCCCTCTC	0.577													7	189	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919487	57919487	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:57919487C>A	ENST00000355673.3	+	6	1092	c.736C>A	c.(736-738)Ccg>Acg	p.P246T	MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	246	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGCTCTCCTCCGGCCCCTCA	0.617													8	290	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62931436	62931436	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:62931436C>A	ENST00000393630.3	+	16	2459	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N|MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000393632.2_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	690					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGCGCATTGCCATGGGGCTGT	0.338													5	116	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64485104	64485104	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:64485104C>A	ENST00000355086.3	+	12	2009	c.1485C>A	c.(1483-1485)ccC>ccA	p.P495P	SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	495					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTCCAGGCCCCGCTCACAGT	0.458													5	72	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94641723	94641723	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:94641723C>A	ENST00000258526.4	+	13	2682	c.2433C>A	c.(2431-2433)ccC>ccA	p.P811P		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	811					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.P811P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGCCCCCAGTTTAAAGA	0.448													6	185	---	---	---	---
IKBIP	121457	broad.mit.edu	37	12	99007500	99007500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:99007500C>A	ENST00000342502.2	-	3	1327	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	306					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ACCAATCTCCCAATGCGTAGT	0.323													6	88	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102471269	102471269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:102471269C>A	ENST00000552283.1	-	7	692	c.553G>T	c.(553-555)Gag>Tag	p.E185*	NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	185					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CCATTCTTCTCTGCAACCATT	0.378													5	89	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110465570	110465570	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:110465570G>T	ENST00000261739.4	+	9	1110	c.944G>T	c.(943-945)gGg>gTg	p.G315V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	315										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GGTGCACAAGGGGTAAGTTGA	0.443													6	96	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120166400	120166400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:120166400C>A	ENST00000392521.2	-	28	3553	c.3498G>T	c.(3496-3498)ctG>ctT	p.L1166L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1124L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1124	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTTCTCCAGGTCATTGA	0.458													6	240	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134244	121134244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:121134244C>A	ENST00000228506.3	+	5	1203	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	MLEC_ENST00000412616.2_Silent_p.P180P|MLEC_ENST00000535413.1_3'UTR	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	259					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GTCAGGCCCCCGCACACCCAA	0.512													7	207	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36049311	36049311	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:36049311G>T	ENST00000379919.4	-	1	1521	c.965C>A	c.(964-966)cCg>cAg	p.P322Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	322					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ATCTAAGTTCGGTAGAAAGTA	0.537													6	173	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46544601	46544601	+	Splice_Site	SNP	C	C	A	rs111945370		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:46544601C>A	ENST00000242848.4	-	13	2817		c.e13-1		ZC3H13_ENST00000282007.3_Splice_Site			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATAGCGCTTCCTAAATTGGAC	0.408													6	146	---	---	---	---
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647													5	49	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115089998	115089998	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:115089998C>A	ENST00000361283.1	+	3	990	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	227	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ATCCCAAACCCCAGAAGCAGT	0.527													7	201	---	---	---	---
TRAV12-2	28673	broad.mit.edu	37	14	22356675	22356675	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:22356675C>A	ENST00000390437.2	+	0	438																											ACCTCTGTGCCGTGAACACAC	0.522													5	201	---	---	---	---
PABPN1	8106	broad.mit.edu	37	14	23793354	23793354	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23793354C>A	ENST00000397276.2	+	6	750	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	PABPN1_ENST00000216727.4_Missense_Mutation_p.P246Q|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGATCCCAAAACGAACC	0.507													5	81	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855798	23855798	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23855798C>A	ENST00000405093.3	-	33	4755	c.4685G>T	c.(4684-4686)cGg>cTg	p.R1562L	MYH6_ENST00000356287.3_Missense_Mutation_p.R1562L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1562					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGCTGGGCCCGGAGGATCTT	0.642													5	214	---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24808680	24808680	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24808680C>A	ENST00000216274.5	-	2	362	c.144G>T	c.(142-144)gcG>gcT	p.A48A	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	48	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CGATCTTGACCGCCACATCGT	0.602													5	204	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24845950	24845950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24845950C>A	ENST00000413692.2	+	10	2840	c.2696C>A	c.(2695-2697)cCt>cAt	p.P899H	NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000250373.4_Missense_Mutation_p.P836H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	836					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATCCCCTACCTGCTGAGGGA	0.637													6	136	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69542088	69542088	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:69542088C>A	ENST00000341516.5	-	7	1067	c.920G>T	c.(919-921)tGg>tTg	p.W307L	DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	307						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGGAATTCTCCACATGTACAG	0.383													7	294	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102452969	102452969	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:102452969C>A	ENST00000360184.4	+	8	2571	c.2407C>A	c.(2407-2409)Ctt>Att	p.L803I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	803	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCATTTCCCTTTTGGTGGC	0.522													6	145	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28375705	28375705	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:28375705C>A	ENST00000261609.7	-	82	12714	c.12606G>T	c.(12604-12606)gtG>gtT	p.V4202V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4202					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCCGCATTCCACTTTAACTA	0.423													6	229	---	---	---	---
FRMD5	84978	broad.mit.edu	37	15	44211981	44211981	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:44211981C>A	ENST00000417257.1	-	3	410	c.234G>T	c.(232-234)gtG>gtT	p.V78V	FRMD5_ENST00000402883.1_Silent_p.V78V|FRMD5_ENST00000484674.1_5'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	78	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATTGTTTCACCACAGACTTTG	0.408													5	77	---	---	---	---
SHF	90525	broad.mit.edu	37	15	45467512	45467512	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:45467512C>A	ENST00000290894.8	-	4	1051	c.557G>T	c.(556-558)cGg>cTg	p.R186L	RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000560734.1_Missense_Mutation_p.R251L	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	186										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCGGGACTCCCGGGGCCAGGG	0.627													3	15	---	---	---	---
GNB5	10681	broad.mit.edu	37	15	52433337	52433337	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:52433337C>A	ENST00000261837.7	-	7	692	c.627G>T	c.(625-627)caG>caT	p.Q209H	GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Splice_Site_p.Q167H	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	209						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTATTTACCTGCATGTCAG	0.507													6	87	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74468100	74468100	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74468100C>A	ENST00000249842.3	+	2	1258	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	301	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCCAGCTCCCAGCCGCGCTT	0.632													7	122	---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74740896	74740896	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74740896C>A	ENST00000567435.1	-	10	1391	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	310							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ATGGGCGTCCCTGACTGGACA	0.557													8	290	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77906909	77906909	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:77906909C>A	ENST00000355300.6	-	2	1514	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	447	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCATCGGCCCGGCACACAAA	0.667													3	16	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78893932	78893932	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:78893932G>T	ENST00000326828.5	-	5	1436	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	351					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATGACCCTGGGGAGCAGGTT	0.552													8	100	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80883998	80883998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:80883998G>T	ENST00000533983.1	+	19	2314	c.1975G>T	c.(1975-1977)Ggt>Tgt	p.G659C	ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000303329.4_Missense_Mutation_p.G670C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	670					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCAGCAGAGCGGTGAGCAGCA	0.597													4	116	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	87531319	87531319	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:87531319C>A	ENST00000421325.2	+	22	3185	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000441037.2_Splice_Site_p.P1062Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q			Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1062					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catgtctccccgtgagtatgt	0.413													7	180	---	---	---	---
FES	2242	broad.mit.edu	37	15	91437271	91437271	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91437271G>T	ENST00000328850.3	+	18	2451	c.2309G>T	c.(2308-2310)cGg>cTg	p.R770L	FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394302.1_Missense_Mutation_p.R629L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000450438.2_Missense_Mutation_p.R642L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	770	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGCAGACACGGGAGTTTGTG	0.577													7	319	---	---	---	---
HDDC3	374659	broad.mit.edu	37	15	91475004	91475004	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91475004G>T	ENST00000330334.3	-	3	344	c.339C>A	c.(337-339)ccC>ccA	p.P113P	HDDC3_ENST00000559898.1_Silent_p.P113P|HDDC3_ENST00000394272.3_Silent_p.P113P|UNC45A_ENST00000394275.2_Intron	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	HD domain containing 3	113	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTTGGCCCCGGGGCTACTGT	0.582											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	183	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1_ENST00000361919.3_Silent_p.Q219Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	219	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408													4	57	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	314923	314923	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:314923C>A	ENST00000399932.3	+	13	2012	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	521						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGACCTTGTCCCAAGCAGCAG	0.657													5	62	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4882096	4882096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:4882096C>A	ENST00000321919.9	-	5	497	c.421G>T	c.(421-423)Gga>Tga	p.G141*	GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	141					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTTCTCCCATGTTCTTC	0.522													6	163	---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14028088	14028088	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:14028088G>T	ENST00000311895.7	+	7	1151	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	381					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCAAAGTGGGAGGCACTG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	159	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30771664	30771664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:30771664G>T	ENST00000543610.1	-	4	1371	c.410C>A	c.(409-411)tCa>tAa	p.S137*	PHKG2_ENST00000424889.3_3'UTR|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	137										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGCTCCAGTGAGAAGCCCTG	0.612													5	83	---	---	---	---
BCKDK	10295	broad.mit.edu	37	16	31122021	31122021	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31122021G>T	ENST00000394951.1	+	9	1278	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C|BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	219	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGACTTTGTCGGCATCATCTG	0.572													7	210	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422456	31422456	+	Silent	SNP	C	C	A	rs138291839		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31422456C>A	ENST00000389202.2	+	13	1465	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	472					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCAGCACCGACCTGATCC	0.647													5	109	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31427854	31427854	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31427854C>A	ENST00000389202.2	+	20	2435	c.2386C>A	c.(2386-2388)Ctg>Atg	p.L796M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	796					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGAGCTCCCTGGAGCTCAA	0.617													6	133	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966433	54966433	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:54966433C>A	ENST00000394636.4	+	2	610	c.273C>A	c.(271-273)ccC>ccA	p.P91P	IRX5_ENST00000320990.5_Silent_p.P91P|IRX5_ENST00000558597.1_Silent_p.P25P|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	91					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCACACACCCGGCATGGCGG	0.652													5	100	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56423200	56423200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:56423200C>A	ENST00000290649.5	-	9	1383	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGTTCTTCCCTGACACGAT	0.458													6	105	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68849503	68849503	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:68849503C>A	ENST00000261769.5	+	10	1597	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	469	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTCACCACCTCCACAGCCACC	0.532			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				6	140	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74919621	74919621	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:74919621C>A	ENST00000262144.6	-	25	2749	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	873										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTCTCAGACCCCAACGGTAGA	0.463													6	84	---	---	---	---
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					response to retinoic acid	cytoplasm	hydrolase activity										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	115	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4837468	4837468	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:4837468C>A	ENST00000329125.5	+	2	1644	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	523										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TTCTCCACCCCGACTTTTGCT	0.562													6	120	---	---	---	---
DHX33	56919	broad.mit.edu	37	17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512													3	157	---	---	---	---
SHBG	6462	broad.mit.edu	37	17	7535319	7535319	+	Missense_Mutation	SNP	C	C	A	rs140325118		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7535319C>A	ENST00000380450.4	+	6	869	c.838C>A	c.(838-840)Cac>Aac	p.H280N	SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	280	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCTCAGTCTCCACCTCCAAGA	0.562													7	205	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727981	7727981	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7727981C>A	ENST00000572933.1	+	77	13249	c.11789C>A	c.(11788-11790)cCc>cAc	p.P3930H	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3930	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCCATCCCCCACCCAGAC	0.552													7	132	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29849385	29849385	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:29849385C>A	ENST00000325874.8	+	7	1130	c.901C>A	c.(901-903)Cga>Aga	p.R301R	RAB11FIP4_ENST00000394744.2_Silent_p.R199R	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	301	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGCCCCAACCGAAAGATCTC	0.577													5	117	---	---	---	---
C17orf66	256957	broad.mit.edu	37	17	34185976	34185976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:34185976C>A	ENST00000311880.2	-	9	1003	c.855G>T	c.(853-855)ctG>ctT	p.L285L	C17orf66_ENST00000592980.1_Silent_p.L245L	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	285							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCAGGAAACCCAGGCACAGGG	0.567													5	80	---	---	---	---
MRPL45	84311	broad.mit.edu	37	17	36476512	36476512	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36476512G>T	ENST00000312513.5	+	6	682	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	174					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACATGACTTGGGACATCAAA	0.473													7	242	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36935636	36935636	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36935636C>A	ENST00000269554.3	-	5	1134	c.654G>T	c.(652-654)aaG>aaT	p.K218N	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	218	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCCCTTTACCTTGAGGTCAT	0.552													6	156	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37371269	37371269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37371269C>A	ENST00000333461.5	-	6	1076	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CAGCTCATCCCGCTCACTCTA	0.627													5	178	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37439105	37439105	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37439105C>A	ENST00000264658.6	-	8	758	c.498G>T	c.(496-498)gaG>gaT	p.E166D	FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	166						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTGGACATCCCTCACTTAGGA	0.418													6	124	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843415	40843415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:40843415G>T	ENST00000264638.4	+	15	2447	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	744	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACTGACAAGGGACTGCTGAC	0.592													5	47	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608050	46608050	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:46608050C>A	ENST00000239174.6	-	1	309	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	73						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.G73W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGGGCACCCCCAGGGTCGAA	0.672													5	74	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57290243	57290243	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:57290243C>A	ENST00000543872.2	+	4	2323	c.2059C>A	c.(2059-2061)Caa>Aaa	p.Q687K	SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	687					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.Q687K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCTCAAACCCAAGGAGAGAG	0.463													6	192	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611529	61611529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:61611529C>A	ENST00000583023.1	+	5	969	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	320					regulation of transcription, DNA-dependent|signal transduction			p.R320C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATCAACTTCCGCACCACCTA	0.582													5	191	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492985	62492985	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:62492985C>A	ENST00000539111.2	-	1	169	c.102G>T	c.(100-102)acG>acT	p.T34T		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	34					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACTCCTTTCCGTCAACAGCT	0.647													5	107	---	---	---	---
CACNG4	27092	broad.mit.edu	37	17	65021031	65021031	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65021031G>T	ENST00000262138.3	+	3	362	c.360G>T	c.(358-360)ctG>ctT	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TGCTCCTGCTGGGTGGCCTGT	0.652													7	155	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65134173	65134173	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65134173C>A	ENST00000358691.5	-	22	2993	c.2827G>T	c.(2827-2829)Ggg>Tgg	p.G943W	HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAACTTCCCCCACGCTACT	0.388													6	111	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73316460	73316460	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73316460G>T	ENST00000392562.1	-	6	1425	c.643C>A	c.(643-645)Cgg>Agg	p.R215R	GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000392564.1_Silent_p.R215R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	215	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TAGACGTTCCGGTTCACGGGG	0.453													6	356	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73491708	73491708	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73491708C>A	ENST00000314256.7	+	22	3322	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	976					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTTTTCACCGACTGCACCC	0.637													7	228	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73811288	73811288	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73811288G>T	ENST00000293218.3	+	8	1143	c.1143G>T	c.(1141-1143)tcG>tcT	p.S381S	UNK_ENST00000589666.1_Silent_p.S305S			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	305							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCAGCAGTCGGGCAGCTGTC	0.652													6	179	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74392583	74392583	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392583C>A	ENST00000319380.7	-	14	2499	c.2435G>T	c.(2434-2436)cGg>cTg	p.R812L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	812							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTCAACTCCCGGAAGCTCTT	0.647													9	312	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74392836	74392836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392836C>A	ENST00000319380.7	-	14	2246	c.2182G>T	c.(2182-2184)Ggg>Tgg	p.G728W		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	728							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GAGGATGCCCCGCTGGTGCTG	0.567													5	152	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77923570	77923570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:77923570C>A	ENST00000310924.2	-	7	1467	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	451	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGCGCCTCCCGCTCCTCCGA	0.642													5	178	---	---	---	---
YES1	7525	broad.mit.edu	37	18	748004	748004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:748004C>A	ENST00000584307.1	-	4	556	c.386G>T	c.(385-387)tGg>tTg	p.W129L	YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	129	SH3.				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			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TCTTGCTTCCCACCAATCTCC	0.433													7	198	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3129369	3129369	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:3129369G>T	ENST00000400569.3	-	18	2988	c.2655C>A	c.(2653-2655)ccC>ccA	p.P885P	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Silent_p.P885P			P52179	MYOM1_HUMAN	myomesin 1	885						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGAGCTACTGGGTAGTGAAG	0.542											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	252	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47516881	47516881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:47516881C>A	ENST00000285039.7	-	7	1065	c.766G>T	c.(766-768)Gag>Tag	p.E256*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	256	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAATTCCTCTCATCATCTGCC	0.502													4	51	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56184193	56184193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:56184193C>A	ENST00000361673.3	-	9	6100	c.5887G>T	c.(5887-5889)Ggg>Tgg	p.G1963W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTCTGGTCCCATAGGCAATG	0.537													6	188	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67836099	67836099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:67836099C>A	ENST00000255674.6	-	12	1967	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCTCTTTCCCAATATCAGAC	0.294													6	117	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2210676	2210676	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:2210676C>A	ENST00000398665.3	+	14	1209	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	391	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGTCTCCCTCCAAAGCCC	0.612													8	156	---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4013131	4013131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4013131C>A	ENST00000262971.2	+	2	353	c.238C>A	c.(238-240)Ccc>Acc	p.P80T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	80					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCACCGGCCCCTGGACCC	0.637													4	85	---	---	---	---
MPND	84954	broad.mit.edu	37	19	4355118	4355118	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4355118C>A	ENST00000599840.1	+	8	979	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MPND_ENST00000262966.8_Missense_Mutation_p.P315H|MPND_ENST00000359935.4_Intron			Q8N594	MPND_HUMAN	MPN domain containing	315	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCTTCCCTTGTCGGAGC	0.677													5	44	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7267518	7267518	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:7267518G>T	ENST00000341500.5	-	2	529	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	INSR_ENST00000302850.5_Missense_Mutation_p.L164M	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	164					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGGAATCCAGGATACGGGAC	0.527													5	74	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16040400	16040400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000402119.4	-	2	636	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517													8	128	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18974273	18974273	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18974273C>A	ENST00000262803.5	+	19	2899	c.2627C>A	c.(2626-2628)cCg>cAg	p.P876Q	UPF1_ENST00000599848.1_Missense_Mutation_p.P887Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.P876Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGGGCAACCCGAAGGCACTA	0.597													6	309	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18976570	18976570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18976570C>A	ENST00000262803.5	+	22	3492	c.3220C>A	c.(3220-3222)Cag>Aag	p.Q1074K	UPF1_ENST00000599848.1_Missense_Mutation_p.Q1085K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1085	Gln/Ser-rich.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCTCTCCCAGCCGGAGCT	0.647													5	93	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36278578	36278578	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36278578C>A	ENST00000007510.4	+	21	3255	c.3111C>A	c.(3109-3111)ccC>ccA	p.P1037P	ARHGAP33_ENST00000378944.5_Silent_p.P873P|ARHGAP33_ENST00000314737.5_Silent_p.P876P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1037					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCCAGCCCCCAGGGAGTGCC	0.697													6	64	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36430931	36430931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36430931C>A	ENST00000588831.1	+	3	1658	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	202					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTTTTTCCCGCCTGCACAA	0.697													6	208	---	---	---	---
TBCB	1155	broad.mit.edu	37	19	36616652	36616652	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36616652C>A	ENST00000221855.3	+	6	1278	c.703C>A	c.(703-705)Ccg>Acg	p.P235T	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGACTTCCCGGAGGAGGA	0.572													7	227	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39907506	39907506	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:39907506C>A	ENST00000425673.1	+	7	935	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409794.3_Silent_p.R204R			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	204	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCTGCTCCGGGAGCTGTC	0.667													5	172	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40331076	40331076	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:40331076C>A	ENST00000221801.3	-	3	374	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	87					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCGGCTCCACCATCACATTCT	0.612													7	264	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41231253	41231253	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:41231253C>A	ENST00000263370.2	+	2	1197	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	388						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCAAACCCTGGAAGAAGC	0.567													7	187	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44097036	44097036	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:44097036C>A	ENST00000422989.1	-	3	1169	c.1014G>T	c.(1012-1014)ccG>ccT	p.P338P	IRGQ_ENST00000602269.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.P51P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGACACTCCGGATCCTCGC	0.612													6	204	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46318255	46318255	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:46318255C>A	ENST00000221538.3	-	1	322	c.180G>T	c.(178-180)agG>agT	p.R60S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	60						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACAGGCTGCCCCTCTGTGACC	0.647													6	70	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622													4	86	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18522950	18522950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:18522950C>A	ENST00000336714.3	+	13	1847	c.1415C>A	c.(1414-1416)cCg>cAg	p.P472Q	SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	472					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CACAACACCCCGATCCCCCAA	0.532													5	233	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687334	21687334	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:21687334G>T	ENST00000398485.2	+	2	599	c.545G>T	c.(544-546)cGg>cTg	p.R182L	PAX1_ENST00000444366.2_Missense_Mutation_p.R158L|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	182	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AAGCACATCCGGGACTACAAG	0.637													5	107	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353													6	99	---	---	---	---
MOCS3	27304	broad.mit.edu	37	20	49576642	49576642	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:49576642C>A	ENST00000244051.1	+	1	1280	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	421	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CACAGAAAGCCGTGAAGATCC	0.498													5	141	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50140226	50140226	+	Missense_Mutation	SNP	G	G	T	rs148866792		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:50140226G>T	ENST00000371564.3	-	2	773	c.554C>A	c.(553-555)cCc>cAc	p.P185H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	185	3 X approximate SP repeats.|Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGAGGTGTAGGGGGAGAAGGT	0.632													5	59	---	---	---	---
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:61594048C>A	ENST00000370349.3	+	6	756	c.552C>A	c.(550-552)tcC>tcA	p.S184S	SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637													6	170	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62839624	62839624	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:62839624C>A	ENST00000536311.1	+	7	1439	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R359R			Q01538	MYT1_HUMAN	myelin transcription factor 1	359					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R359W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCACTCCCGGAAGTCAAC	0.602													5	89	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30318243	30318243	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:30318243C>A	ENST00000389194.2	-	21	3797	c.3792G>T	c.(3790-3792)ctG>ctT	p.L1264L	LTN1_ENST00000361371.5_Silent_p.L1218L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1218							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATTTACACCCAGTACCTCTG	0.353													5	74	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000398585.3	-	13	1506	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								8	78	---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45535158	45535158	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:45535158G>T	ENST00000291576.7	+	6	611	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	162						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTTGTGGTTGGGAGCAAAGA	0.587													6	173	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29727447	29727447	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:29727447C>A	ENST00000357586.2	-	19	2701	c.2515G>T	c.(2515-2517)Ggg>Tgg	p.G839W	AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000405198.1_Missense_Mutation_p.G839W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	839					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCATCTTCCCGTCCTCCACA	0.577													6	202	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35661213	35661213	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:35661213C>A	ENST00000216106.5	+	5	960	c.832C>A	c.(832-834)Cac>Aac	p.H278N	HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	278					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCAGAGTCCCACAGTGCTAA	0.517													5	65	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2			mitochondrial elongation factor 1	366																	GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	74	---	---	---	---
SULT4A1	25830	broad.mit.edu	37	22	44258260	44258260	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:44258260C>A	ENST00000330884.4	-	1	123	c.3G>T	c.(1-3)atG>atT	p.M1I	SULT4A1_ENST00000249130.5_Start_Codon_SNP_p.M1I|SULT4A1_ENST00000540422.1_Start_Codon_SNP_p.M1I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	1					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGCTCTCCGCCATgccgccgc	0.791													5	52	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50905973	50905973	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:50905973C>A	ENST00000380817.3	-	4	609	c.426G>T	c.(424-426)acG>acT	p.T142T	SBF1_ENST00000348911.6_Silent_p.T143T|SBF1_ENST00000390679.3_Silent_p.T142T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGAACACCTCCGTGTGGTCGA	0.657													5	116	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000381578.1	+	2	885	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587													22	141	---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99956498	99956498	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:99956498C>A	ENST00000372981.1	-	3	468	c.282G>T	c.(280-282)caG>caT	p.Q94H	SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	94	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGCTTTCCTGTATGCGGC	0.582													6	81	---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118767429	118767429	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:118767429C>A	ENST00000394610.1	-	8	1247	c.983G>T	c.(982-984)aGg>aTg	p.R328M	SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000343984.5_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	328					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAACTCGTTCCTTTTGGCCTC	0.448			T	MLL	AML								6	208	---	---	---	---
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388													13	20	---	---	---	---
TREX2	11219	broad.mit.edu	37	X	152713231	152713231	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:152713231G>T	ENST00000334497.2	-	10	1211	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	TREX2_ENST00000414588.1_Silent_p.A7A|TREX2_ENST00000370232.1_Missense_Mutation_p.R24S|TREX2_ENST00000402951.1_Missense_Mutation_p.R24S|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	24					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCAACGGCTTCTGCTG	0.587								Editing and processing nucleases					6	184	---	---	---	---
