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	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PYGM	5837	broad.mit.edu	37	11	64519519	64519519	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64519519A>G	ENST00000164139.3	-	14	2043	c.1645T>C	c.(1645-1647)Tac>Cac	p.Y549H	PYGM_ENST00000377432.3_Missense_Mutation_p.Y461H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	549					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTCTCTAGGTAGGCAGCAAAC	0.517000													50	118					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59821938	59821938	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:59821938T>C	ENST00000259008.2	-	15	2379	c.2112A>G	c.(2110-2112)ttA>ttG	p.L704L	BRIP1_ENST00000577598.1_Silent_p.L704L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	704					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AACGTTCTTTTAATTTTTCTA	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					66	108					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379999	127379999	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:127379999G>A	ENST00000342480.6	+	3	1167	c.1128G>A	c.(1126-1128)acG>acA	p.T376T		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	376					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	p.T376T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGATTCTACGCAGGTAAAGT	0.582000													12	44					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139276292	139276292	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:139276292G>A	ENST00000298532.2	-	17	2669	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	767					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCTGCACTACGGCGGGTCTCT	0.642000													9	36					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473000													21	58					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217300080	217300080	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:217300080C>T	ENST00000357276.4	+	9	1835	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P502L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	502	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGGTGGCTGCCATCTCTGAGC	0.547000									Schimke Immuno-Osseous Dysplasia				13	62					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161553	151161553	+	Missense_Mutation	SNP	G	G	C	rs143471166		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:151161553G>C	ENST00000282466.3	-	5	5181	c.5182C>G	c.(5182-5184)Ctg>Gtg	p.L1728V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1728	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCAAACAGATTGGATGCG	0.517000													41	47					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638796	8638796	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:8638796T>C	ENST00000293845.3	-	5	852	c.626A>G	c.(625-627)gAa>gGa	p.E209G	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	209				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATCATCCTTTTCCTCCATGTA	0.602000													8	35					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74414794	74414794	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:74414794A>G	ENST00000263665.6	-	8	1033	c.1006T>C	c.(1006-1008)Tat>Cat	p.Y336H		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	336	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCCCAATAAAGACTGTCC	0.448000													91	201					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527000													4	88					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683174	31683174	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:31683174C>T	ENST00000319386.3	+	11	2739	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	CCDC129_ENST00000407970.3_Silent_p.P730P|CCDC129_ENST00000409210.1_Silent_p.P638P|CCDC129_ENST00000451887.2_Silent_p.P756P			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	730										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGACTGGTCCCAGAGGAACAT	0.507000													16	50					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106253	53106253	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:53106253G>A	ENST00000332582.4	+	2	941	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	150						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCTGGACCCTGTCTGTGGCCA	0.587000													12	19					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32780872	32780872	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:32780872G>A	ENST00000265074.8	+	5	1583	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NPR3_ENST00000415167.2_Missense_Mutation_p.G414R|NPR3_ENST00000415685.2_Missense_Mutation_p.G198R|NPR3_ENST00000434067.2_Missense_Mutation_p.G198R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	414					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGACCGATATGGGGATTTCTC	0.547000													70	148					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306766	46306766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:46306766C>T	ENST00000397850.2	-	16	2584	c.2132G>A	c.(2131-2133)gGc>gAc	p.G711D	ITGB2_ENST00000397857.1_Missense_Mutation_p.G711D|ITGB2_ENST00000355153.4_Missense_Mutation_p.G711D|ITGB2_ENST00000397854.3_Missense_Mutation_p.G654D|ITGB2_ENST00000302347.5_Missense_Mutation_p.G711D|ITGB2_ENST00000397852.1_Missense_Mutation_p.G711D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	711					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCACGATGCCTGCCACGGT	0.612000													7	57					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835183	12835183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:12835183C>T	ENST00000357726.4	+	1	200	c.173C>T	c.(172-174)gCc>gTc	p.A58V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	58										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTGCAGGCCTGGCCCTTC	0.577000													17	76					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072849	125072849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:125072849C>G	ENST00000522917.1	+	24	3252	c.3046C>G	c.(3046-3048)Cag>Gag	p.Q1016E	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.Q1016E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1016						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGATCGGCCTCAGGCTCTCAT	0.542000													25	39					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16559044	16559044	+	Missense_Mutation	SNP	C	C	A	rs149140682	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:16559044C>A	ENST00000375599.3	-	4	907	c.488G>T	c.(487-489)gGt>gTt	p.G163V		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	163	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGGGGCCTCACCTGCTATGCG	0.597000													3	46					6.4e-05	6.65859e-05	1	1	0
PXDN	7837	broad.mit.edu	37	2	1652948	1652948	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:1652948C>T	ENST00000252804.4	-	17	2654	c.2604G>A	c.(2602-2604)cgG>cgA	p.R868R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	868					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCTCCTGGCCCGGGAGTCAT	0.662000													10	21					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110378	31110378	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:31110378C>T	ENST00000396268.3	-	18	2795	c.2607G>A	c.(2605-2607)atG>atA	p.M869I	CCHCR1_ENST00000396263.2_Missense_Mutation_p.M727I|CCHCR1_ENST00000451521.2_Missense_Mutation_p.M833I|CCHCR1_ENST00000376266.5_Missense_Mutation_p.M780I	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	780					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTTAGCTGCTCATCTGGGGAT	0.577000													17	36					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249177	20249177	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:20249177T>A	ENST00000315957.4	+	1	777	c.696T>A	c.(694-696)ggT>ggA	p.G232G		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	232			G -> D (in dbSNP:rs2815960).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGCTCAGGTGAGAATACCA	0.463000													61	167					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063929	74063929	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:74063929C>T	ENST00000370370.3	-	1	89	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	7					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GATATGTCTACGTGCCGGGAG	0.572000													4	29					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495361	161495361	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:161495361G>C	ENST00000309758.4	+	1	1326	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	305					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCGCTTTGAGGAACTGTG	0.627000													20	19					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160074029	160074029	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:160074029G>A	ENST00000263635.6	+	20	3503	c.3266G>A	c.(3265-3267)aGa>aAa	p.R1089K	TANC1_ENST00000454300.1_Missense_Mutation_p.R983K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1089						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCCGCAGGAAGAGGGAAGCTG	0.547000													35	202					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015119	43015119	+	RNA	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:43015119T>G	ENST00000452075.3	-	0	2475					NR_026777.1																						CCCTTTATGTTCTCTGCTCTA	0.378000													5	12					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914394	117914394	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:117914394C>T	ENST00000425217.1	-	17	2424	c.2370G>A	c.(2368-2370)gaG>gaA	p.E790E	KSR2_ENST00000339824.5_Silent_p.E819E|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	819	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGTTTGTCCTCCCGCCTGG	0.602000													3	7					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								25	50					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979792	58979792	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:58979792C>G	ENST00000361050.3	-	1	632	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	183	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGGTTGTTCTCTAGACGGTCA	0.507000													36	90					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406051	55406051	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55406051C>T	ENST00000314612.2	+	1	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGCTACACATCCACAGTGACC	0.398000													49	99					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713307	218713307	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:218713307A>G	ENST00000171887.4	-	17	2010	c.1558T>C	c.(1558-1560)Tct>Cct	p.S520P	TNS1_ENST00000430930.1_Missense_Mutation_p.S520P|TNS1_ENST00000419504.1_Missense_Mutation_p.S520P|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	520						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGAGAAGAGAGTGTGCCC	0.592000													14	62					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349307	189349307	+	Translation_Start_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:189349307G>A	ENST00000264731.3	+	1	92	c.3G>A	c.(1-3)atG>atA	p.M1I	TP63_ENST00000418709.2_Start_Codon_SNP_p.M1I|TP63_ENST00000440651.2_Start_Codon_SNP_p.M1I|TP63_ENST00000382063.4_Start_Codon_SNP_p.M1I|TP63_ENST00000392460.3_Start_Codon_SNP_p.M1I|TP63_ENST00000320472.5_Start_Codon_SNP_p.M1I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	1	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAAGGAAATGAATTTTGAAA	0.373000										HNSCC(45;0.13)			61	127					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8161817	8161817	+	Silent	SNP	G	G	A	rs138081025		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:8161817G>A	ENST00000600128.1	-	43	5775	c.5361C>T	c.(5359-5361)taC>taT	p.Y1787Y	FBN3_ENST00000601739.1_Silent_p.Y1787Y|FBN3_ENST00000270509.2_Silent_p.Y1787Y			Q75N90	FBN3_HUMAN	fibrillin 3	1787	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTTGCAGCGGTAGCTACCGG	0.607000													25	55					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116628530	116628530	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:116628530C>A	ENST00000260210.4	-	8	1659	c.1636G>T	c.(1636-1638)Gcc>Tcc	p.A546S	BUD13_ENST00000375445.3_Missense_Mutation_p.A412S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	546										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGAAGTTGGCCATAGGGTCC	0.453000													89	153					1.17611e-34	1.4086e-34	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963715	88963715	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:88963715T>C	ENST00000333190.4	+	4	2028	c.1419T>C	c.(1417-1419)taT>taC	p.Y473Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	473						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTATCTCTTATGGCTGCAACC	0.433000										HNSCC(36;0.09)			25	59					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													7	8					0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262754	1262754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:1262754G>A	ENST00000343938.4	+	3	667	c.256G>A	c.(256-258)Gag>Aag	p.E86K	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	86						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	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)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCCACGAGCTGAGCAA	0.706000													5	15					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	75					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70761989	70761989	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:70761989A>G	ENST00000358731.4	+	5	989	c.726A>G	c.(724-726)ccA>ccG	p.P242P	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	242	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGATGGGCCATTACTGGTTC	0.368000													41	53					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	429743	429743	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:429743C>T	ENST00000432829.2	+	36	4627	c.4311C>T	c.(4309-4311)ttC>ttT	p.F1437F	DOCK8_ENST00000469391.1_Silent_p.F1405F|DOCK8_ENST00000382329.1_Silent_p.F972F|DOCK8_ENST00000453981.1_Silent_p.F1505F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1505	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AACAGTGTTTCGACCTATGTC	0.502000													60	18					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256636	52256636	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:52256636G>A	ENST00000597542.1	-	9	2725	c.1768C>T	c.(1768-1770)Cac>Tac	p.H590Y	TLR9_ENST00000360658.2_Missense_Mutation_p.H566Y|TLR9_ENST00000494383.1_Missense_Mutation_p.P719L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	566					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGAAGTTGTGGCCCACGCCC	0.627000													14	38					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359912	124359912	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124359912G>A	ENST00000409039.3	+	46	7744	c.7719G>A	c.(7717-7719)aaG>aaA	p.K2573K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2573	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAATGGGAAAGGCTGGAGGAG	0.438000													7	32					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271789	37271789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:37271789C>A	ENST00000373091.3	-	14	2246	c.2230G>T	c.(2230-2232)Gag>Tag	p.E744*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.E744*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	744					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGACGTACTCGATGGTGGTG	0.637000													21	34					1.66031e-10	1.83883e-10	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42583136	42583136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:42583136C>G	ENST00000600245.1	+	2	1033	c.378C>G	c.(376-378)taC>taG	p.Y126*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y126*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y216*|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCATCCACTACGAGTGTGTGG	0.632000													25	80					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34219095	34219095	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:34219095C>T	ENST00000317619.3	-	12	1196	c.802G>A	c.(802-804)Gta>Ata	p.V268I	CPNE1_ENST00000397446.1_Splice_Site_p.V268I|CPNE1_ENST00000317677.5_Splice_Site_p.V273I|CPNE1_ENST00000397442.1_Splice_Site_p.V268I|CPNE1_ENST00000397445.1_Splice_Site_p.V268I|CPNE1_ENST00000352393.4_Splice_Site_p.V268I|CPNE1_ENST00000397443.1_Splice_Site_p.V268I			Q99829	CPNE1_HUMAN	copine I	268					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTGTTTCTACCTGCAAATGA	0.493000													64	157					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623868	118623868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:118623868G>C	ENST00000336338.5	-	15	2130	c.2065C>G	c.(2065-2067)Cga>Gga	p.R689G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	689						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAGGTTCTCGGTTGCTTTCA	0.363000													22	126					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143998	160143998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143998G>C	ENST00000368081.4	+	14	2560	c.2089G>C	c.(2089-2091)Gct>Cct	p.A697P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	697					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gatcgtgtttgctcgGACCTC	0.537000													16	79					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259960	88259960	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:88259960C>A	ENST00000298767.5	-	3	1512	c.1040G>T	c.(1039-1041)aGt>aTt	p.S347I		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	347	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCCTCTAAAACTGGTCCCACA	0.463000													45	48					7.88023e-25	9.17134e-25	1	1	0
PTPN2	5771	broad.mit.edu	37	18	12794331	12794331	+	Silent	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:12794331A>T	ENST00000309660.5	-	9	1287	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591497.1_Silent_p.I369I|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000591115.1_Intron	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	398					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CGCCAACCAAAATGACTGACA	0.398000													20	79					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894600	71894600	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:71894600G>A	ENST00000258104.3	+	47	5572	c.5295G>A	c.(5293-5295)gtG>gtA	p.V1765V	DYSF_ENST00000409651.1_Silent_p.V1797V|DYSF_ENST00000410041.1_Silent_p.V1783V|DYSF_ENST00000413539.2_Silent_p.V1796V|DYSF_ENST00000409582.3_Silent_p.V1803V|DYSF_ENST00000409762.1_Silent_p.V1782V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1773V|DYSF_ENST00000394120.2_Silent_p.V1766V|DYSF_ENST00000409366.1_Silent_p.V1787V|DYSF_ENST00000429174.2_Silent_p.V1786V|DYSF_ENST00000410020.3_Silent_p.V1804V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1765						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						CGGAGCACGTGGAGTCACGGC	0.652000													20	42					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416406	178416406	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416406C>T	ENST00000231188.5	-	5	1191	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	GRM6_ENST00000517717.1_Splice_Site_p.G338E|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	338					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGGTCAAATCCTACAGACAG	0.532000													11	66					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32349815	32349815	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:32349815G>A	ENST00000375200.1	+	8	1541	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	ZNF341_ENST00000342427.2_Silent_p.Q385Q	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGACCGTACAGGTCATGGCCC	0.567000													37	77					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670703	101670703	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:101670703G>A	ENST00000409318.1	-	4	628	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TBC1D8_ENST00000376840.4_Silent_p.F151F	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	151	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGGGGAAGTTGAACCTGGCCT	0.622000													7	12					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145563013	145563013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:145563013C>T	ENST00000355594.4	+	10	2788	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	901										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCGGGGGCGCTCCGAGCA	0.667000													9	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644787	179644787	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644787G>T	ENST00000589042.1	-	22	3893	c.3669C>A	c.(3667-3669)gcC>gcA	p.A1223A	TTN_ENST00000359218.5_Silent_p.A1177A|TTN_ENST00000342992.6_Silent_p.A1223A|TTN_ENST00000591111.1_Silent_p.A1223A|TTN_ENST00000342175.6_Silent_p.A1177A|TTN_ENST00000460472.2_Silent_p.A1177A|TTN_ENST00000360870.5_Silent_p.A1223A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1223							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)			TCCTAATTAAGGCTTGTtctt	0.348000													33	62					1.56442e-22	1.81051e-22	1	1	0
RPL5	6125	broad.mit.edu	37	1	93300335	93300335	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:93300335G>A	ENST00000370321.3	+	4	279		c.e4-1			NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCTTACTATAGATTGCTTATG	0.388000													67	80					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54694285	54694285	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:54694285G>A	ENST00000254442.3	+	28	4531	c.4320G>A	c.(4318-4320)caG>caA	p.Q1440Q	WDR7_ENST00000589935.1_Silent_p.Q17Q|WDR7_ENST00000357574.3_Silent_p.Q1407Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1440										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCACCTCAGCTGCGCTGCA	0.607000													41	32					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32315779	32315779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:32315779C>T	ENST00000281081.7	+	9	841	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.L170F	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	266					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AGCACAGACCCTTGGTCTTGA	0.428000													6	12					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36611923	36611923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:36611923C>T	ENST00000373448.2	-	9	3443	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	TTI1_ENST00000373447.3_Missense_Mutation_p.G1069R|TTI1_ENST00000449821.1_Missense_Mutation_p.G1069R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1069							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCGCTGGCCCCGTGCAGCTGC	0.652000													12	32					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120428805	120428805	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:120428805C>T	ENST00000259526.3	+	1	260	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	11					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTTTGTCTCCGAAAGCAGT	0.542000											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135777087	135777087	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:135777087C>A	ENST00000298552.3	-	19	2613		c.e19-1		TSC1_ENST00000545250.1_Splice_Site|TSC1_ENST00000440111.2_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAGCTTCGTCTGCCCAAAGA	0.547000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	42					7.73544e-29	9.15805e-29	1	1	0
WWOX	51741	broad.mit.edu	37	16	78198152	78198152	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:78198152C>T	ENST00000566780.1	+	5	848	c.482C>T	c.(481-483)gCg>gTg	p.A161V	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Missense_Mutation_p.A161V|WWOX_ENST00000355860.3_Missense_Mutation_p.A161V|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000408984.3_Missense_Mutation_p.A161V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	161	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGGCAAGGGCGAGTGAAGCA	0.448000													4	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767234	77767234	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:77767234C>T	ENST00000521891.2	+	10	8525	c.8077C>T	c.(8077-8079)Cac>Tac	p.H2693Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2648Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2648Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2667Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2648						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTAGAAAGCCACATTCGCTC	0.542000										HNSCC(33;0.089)			9	53					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143967	160143967	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143967G>C	ENST00000368081.4	+	14	2529	c.2058G>C	c.(2056-2058)caG>caC	p.Q686H	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	686					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			agcttgatcagatcctccaga	0.493000													18	70					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21061283	21061283	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:21061283C>T	ENST00000261383.3	-	30	4294	c.4295G>A	c.(4294-4296)gGg>gAg	p.G1432E	DNAH3_ENST00000415178.1_Missense_Mutation_p.G1432E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1432	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGCCAGTCCCAGCTGGACC	0.522000													13	67					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146388	160146388	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160146388G>C	ENST00000368081.4	+	17	3057	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	862					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTATGGACAGATTGGTGCGC	0.527000													15	45					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757712	242757712	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:242757712C>T	ENST00000391969.2	+	5	1504	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	NEU4_ENST00000325935.6_Missense_Mutation_p.R278C|NEU4_ENST00000404257.1_Missense_Mutation_p.R277C|NEU4_ENST00000405370.1_Missense_Mutation_p.R265C|NEU4_ENST00000407683.1_Missense_Mutation_p.R265C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	265						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCCGCAGAGCGCGTGGCTTC	0.697000													4	3					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987360	185987360	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:185987360G>C	ENST00000271588.4	+	34	5575	c.5346G>C	c.(5344-5346)aaG>aaC	p.K1782N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K1782N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1782	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTCAAGATTTTATTAA	0.398000													30	90					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980672	74980672	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:74980672C>T	ENST00000299727.3	+	3	864	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	288					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAATCACCGCCCACTGCCTGG	0.493000													49	28					0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107881334	107881334	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:107881334C>G	ENST00000264538.3	-	11	1527	c.1280G>C	c.(1279-1281)gGc>gCc	p.G427A		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	427					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAATAAAAGCCTGTTGCTGG	0.343000													46	57					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824091	2824091	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:2824091C>G	ENST00000520002.1	-	59	9659		c.e59+1		CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTTACTAACTTGTGCAGTC	0.443000													5	12					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631990	156631990	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:156631990G>A	ENST00000296518.7	+	6	882	c.673G>A	c.(673-675)Gta>Ata	p.V225I	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V225I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V225I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	225					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGCTGCTCACGTATTATATGA	0.448000													29	74					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554037	140554037	+	Silent	SNP	C	C	T	rs17844466		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:140554037C>T	ENST00000231137.3	+	1	1795	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCCCGCGCTGAGCAGCGA	0.701000													4	84					0	0	1	0	0
TTC9B	148014	broad.mit.edu	37	19	40722099	40722099	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:40722099C>T	ENST00000311308.6	-	3	708	c.691G>A	c.(691-693)Ggg>Agg	p.G231R		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	231							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GTCTGGGACCCAGCCCCACTG	0.597000													32	63					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38050562	38050562	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:38050562A>T	ENST00000463876.1	-	11	2110	c.1757T>A	c.(1756-1758)gTg>gAg	p.V586E	PLCD1_ENST00000334661.4_Missense_Mutation_p.V565E	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	565	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCACATCTCCACGGGGCTGTA	0.642000													4	29					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638001	46638001	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:46638001G>T	ENST00000303383.3	-	7	1244	c.978C>A	c.(976-978)tcC>tcA	p.S326S		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	326										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCTGACCGCTGGAACGGACAC	0.493000													25	92					4.4004e-07	4.74598e-07	1	1	0
FGA	2243	broad.mit.edu	37	4	155508016	155508016	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:155508016C>A	ENST00000302053.3	-	5	643	c.565G>T	c.(565-567)Gct>Tct	p.A189S	FGA_ENST00000403106.3_Missense_Mutation_p.A189S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	189					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTTCACGAGCTAAAGCCCTA	0.418000													6	75					0.00198382	0.00204333	1	1	0
RLF	6018	broad.mit.edu	37	1	40704314	40704314	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:40704314C>A	ENST00000372771.4	+	8	3967	c.3940C>A	c.(3940-3942)Cat>Aat	p.H1314N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1314					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATTGTATTCATAAAACTTG	0.368000													8	37					1.12685e-05	1.18434e-05	1	1	0
CCDC170	80129	broad.mit.edu	37	6	151907137	151907137	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:151907137G>A	ENST00000367290.5	+	7	1295	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	CCDC170_ENST00000239374.7_Silent_p.E402E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	402																	ATATGTTGGAGACTCTTCAGG	0.473000													4	13					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392689	65392689	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:65392689T>C	ENST00000355703.3	+	17	3506	c.2967T>C	c.(2965-2967)tgT>tgC	p.C989C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	989						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGTCTTCTGTGGCCTCCTGG	0.642000													7	16					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64494818	64494818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64494818C>A	ENST00000377494.1	-	15	2711	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.E596*|RASGRP2_ENST00000354024.3_Nonsense_Mutation_p.E596*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.E596*			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	596					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGTACCTCCTCCTCACGG	0.597000													9	49					3.09899e-07	3.37773e-07	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44795867	44795867	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:44795867A>G	ENST00000309315.4	+	2	142	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.M7V|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.M7V|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.M7V|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.M7V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	7					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATGAACCCCATGAAACCTGC	0.607000													19	35					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19612809	19612809	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:19612809G>A	ENST00000404158.1	+	12	1953	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	GATAD2A_ENST00000360315.3_Missense_Mutation_p.R511H|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R511H|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R140H|GATAD2A_ENST00000252577.5_Intron			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	511					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TTGGCGTTCCGCTCAGGAGAG	0.667000													18	69					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989043	9989043	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:9989043G>C	ENST00000412055.1	-	4	1943	c.1814C>G	c.(1813-1815)tCg>tGg	p.S605W		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	605						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAGGCGCACGACAAGCCCTG	0.711000													4	23					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439238	110439238	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110439238C>T	ENST00000378402.5	+	25	2957	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	951					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGCCTCCCCGCTGCTGTGT	0.557000										HNSCC(38;0.096)			17	85					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244140	42244140	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:42244140T>C	ENST00000327628.5	+	13	2040	c.1640T>C	c.(1639-1641)cTg>cCg	p.L547P	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.L489P|TRAK1_ENST00000449246.1_Missense_Mutation_p.L473P|TRAK1_ENST00000396175.1_Missense_Mutation_p.L489P	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	547					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCATGTCCCTGGGCACGCAC	0.622000													22	54					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858559	149858559	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:149858559G>T	ENST00000331380.2	+	1	35	c.35G>T	c.(34-36)cGc>cTc	p.R12L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582000													74	111					3.76054e-38	4.55688e-38	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554036	140554036	+	Silent	SNP	G	G	T	rs17844465		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:140554036G>T	ENST00000231137.3	+	1	1794	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCCGCGCTGAGCAGCG	0.701000													4	84					0.014758	0.0149761	1	1	0
KIF1A	547	broad.mit.edu	37	2	241715279	241715279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:241715279C>T	ENST00000498729.2	-	11	1193	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF1A_ENST00000320389.7_Missense_Mutation_p.R316Q	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	316	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGTTTTCCCGGAGGAGCCA	0.577000													6	24					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145582067	145582067	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:145582067C>A	ENST00000331890.5	-	1	105	c.41G>T	c.(40-42)cGg>cTg	p.R14L	FBXL6_ENST00000455319.2_Missense_Mutation_p.R14L	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	14	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGGCGCTGCCCGGGCTCTGCG	0.741000													2	0					1	1	1	1	0
TRAV35	28647	broad.mit.edu	37	14	22690325	22690325	+	RNA	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:22690325C>T	ENST00000390462.1	+	0	284																											CTGAATATCTCAGCATCCATA	0.473000													13	50					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114170923	114170923	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:114170923G>A	ENST00000357077.4	+	10	948	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	ANK2_ENST00000506722.1_Missense_Mutation_p.G278R|ANK2_ENST00000264366.6_Missense_Mutation_p.G299R|ANK2_ENST00000394537.3_Missense_Mutation_p.G299R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	299					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCAGGATGGGTTGACACC	0.458000													5	22					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075858	83075858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:83075858G>T	ENST00000369750.3	+	2	1797	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	TPBG_ENST00000535040.1_Missense_Mutation_p.D394Y|TPBG_ENST00000543496.1_Missense_Mutation_p.D394Y			Q13641	TPBG_HUMAN	trophoblast glycoprotein	394					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGCCTGCAGGGATCACATGGA	0.423000													19	63					1.50039e-11	1.67979e-11	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58620581	58620581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:58620581G>A	ENST00000317147.5	-	7	837	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q169*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q169*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	169					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACCTTCTTGATTTCCACTG	0.473000													119	165					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131363	110131363	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110131363C>T	ENST00000518632.1	+	3	1227	c.876C>T	c.(874-876)ctC>ctT	p.L292L	TRHR_ENST00000311762.2_Silent_p.L292L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	292						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACTCATTTCTCTCCAGTCCTT	0.428000													118	206					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559447	210559447	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:210559447T>C	ENST00000360351.4	+	7	3059	c.2553T>C	c.(2551-2553)acT>acC	p.T851T	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.T847T|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	851					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCCCGGTAACTGATGAAAACC	0.493000													13	68					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122818658	122818658	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:122818658C>T	ENST00000358808.2	-	13	2748		c.e13-1		CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTACAGTTTCTATTTAGGAT	0.343000													5	17					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047	by1000genomes	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1																						TTATAGTGTGTATTTTAATTA	0.353000													8	25					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27282715	27282715	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:27282715G>C	ENST00000496902.4	+	1	552	c.66G>C	c.(64-66)aaG>aaC	p.K22N	EVX1_ENST00000222761.3_Missense_Mutation_p.K22N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TGGTTGGCAAGAGAGTCTCAA	0.652000													4	8					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116628531	116628531	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:116628531C>A	ENST00000260210.4	-	8	1658	c.1635G>T	c.(1633-1635)atG>atT	p.M545I	BUD13_ENST00000375445.3_Missense_Mutation_p.M411I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	545										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TGAAGTTGGCCATAGGGTCCC	0.453000													85	156					1.3515e-34	1.6093e-34	1	1	0
RPF1	80135	broad.mit.edu	37	1	84944970	84944970	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:84944970G>T	ENST00000370654.5	+	1	21	c.6G>T	c.(4-6)gcG>gcT	p.A2A	RPF1_ENST00000370656.1_Silent_p.A2A	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	2					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGACCATGGCGAAAGCCGGGG	0.552000													11	19					1.61879e-10	1.80255e-10	1	1	0
ARID3C	138715	broad.mit.edu	37	9	34622477	34622477	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:34622477T>C	ENST00000378909.2	-	5	1007	c.915A>G	c.(913-915)gcA>gcG	p.A305A		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	305	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TAGGTCCCAGTGCCAGGCCCA	0.582000													44	34					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416401	178416401	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416401C>T	ENST00000231188.5	-	5	1196	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	GRM6_ENST00000517717.1_Missense_Mutation_p.D340N|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	340					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGTACTGGTCAAATCCTACA	0.527000													13	68					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410399	10410399	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:10410399G>A	ENST00000379613.3	-	2	477	c.221C>T	c.(220-222)cCt>cTt	p.P74L	TFAP2A_ENST00000319516.4_Missense_Mutation_p.P68L|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P66L|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P72L|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379604.2_Missense_Mutation_p.P72L|TFAP2A_ENST00000497266.1_Intron			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	72	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.P66R(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGGGAGTAAGGATCTTGCGA	0.672000													8	63					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458286	248458286	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248458286T>A	ENST00000317996.1	-	1	594	c.595A>T	c.(595-597)Atc>Ttc	p.I199F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACACAGCAGATGTACATGGCG	0.537000													15	79					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42203985	42203985	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:42203985C>A	ENST00000541110.1	-	16	3652	c.3084G>T	c.(3082-3084)caG>caT	p.Q1028H	TRERF1_ENST00000340840.2_Missense_Mutation_p.Q925H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q925H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q1008H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q925H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1008	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCTGAGGGCTGGCCCAGGG	0.627000													6	14					2.0095e-06	2.14485e-06	1	1	0
IHH	3549	broad.mit.edu	37	2	219924972	219924972	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:219924972C>T	ENST00000295731.6	-	1	217	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGGAGCTGCGAGCGATCTT	0.612000													32	54					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45726145	45726145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:45726145G>A	ENST00000297323.7	+	14	2349		c.e14-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTTCCCCCAGGGGTGGTGCC	0.612000													12	30					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166870384	166870384	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:166870384C>A	ENST00000423058.2	-	18	3592	c.3575G>T	c.(3574-3576)tGt>tTt	p.C1192F	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1164F|SCN1A_ENST00000303395.4_Missense_Mutation_p.C1192F|SCN1A_ENST00000375405.3_Missense_Mutation_p.C1181F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1192						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)	ATTGATTTGACAACACTTGAA	0.388000													70	100					1.76847e-28	2.08174e-28	1	1	0
DFNB31	25861	broad.mit.edu	37	9	117186682	117186682	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:117186682G>C	ENST00000362057.3	-	6	1516	c.1348C>G	c.(1348-1350)Cgt>Ggt	p.R450G	DFNB31_ENST00000374059.3_Missense_Mutation_p.R99G|DFNB31_ENST00000265134.6_Missense_Mutation_p.R67G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	450					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCACCACGGTACTCATCC	0.632000													12	56					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681672	55681672	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55681672G>T	ENST00000344514.1	-	1	386	c.387C>A	c.(385-387)ccC>ccA	p.P129P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATAGAGCAGGGGGTTGATGA	0.463000													34	47					2.20262e-25	2.57807e-25	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124265822	124265822	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124265822C>G	ENST00000409039.3	+	6	659	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	212	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGTAATATTCAAAGAACCAT	0.388000													68	100					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60508129	60508129	+	Missense_Mutation	SNP	G	G	A	rs142330895		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:60508129G>A	ENST00000360469.5	+	14	2414	c.2326G>A	c.(2326-2328)Gtc>Atc	p.V776I	CDH4_ENST00000543233.1_Missense_Mutation_p.V702I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	776					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGAGGACGACGTCCGCGACAA	0.657000													21	56					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838858	109838858	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:109838858G>A	ENST00000357155.1	-	6	914	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	289	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCACTCACCCGGGGAGAGGCG	0.562000													43	102					0	0	1	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839474	173839474	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:173839474T>G	ENST00000367701.5	+	2	302	c.111T>G	c.(109-111)aaT>aaG	p.N37K	ZBTB37_ENST00000367704.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000432989.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000427304.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000367702.1_Missense_Mutation_p.N37K			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37		BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGTGGTCAATGTGCAAGGAC	0.507000													39	92					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801782	74801782	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:74801782G>C	ENST00000370895.1	+	9	969	c.934G>C	c.(934-936)Gga>Cga	p.G312R	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G325R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G312R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G211R|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G312R			Q59H18	TNI3K_HUMAN		211						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATCTGCAAAAGGATTCTTGAA	0.358000													23	41					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292239	18292239	+	Silent	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:18292239C>A	ENST00000377369.2	+	12	2172	c.1899C>A	c.(1897-1899)atC>atA	p.I633I	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Silent_p.I499I|SLC39A12_ENST00000377374.4_Silent_p.I596I|SLC39A12_ENST00000377371.3_Silent_p.I632I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	633					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGACTGGATCTTCACAGTCA	0.393000													93	112					1.13049e-35	1.36188e-35	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769796	31769796	+	Silent	SNP	T	T	C	rs61747216	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:31769796T>C	ENST00000240587.4	-	2	1230	c.903A>G	c.(901-903)caA>caG	p.Q301Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	301					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGGCACTTTTTGGTAGTGTT	0.537000													44	96					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812708	141812708	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:141812708C>A	ENST00000389484.3	-	10	2500	c.1529G>T	c.(1528-1530)gGa>gTa	p.G510V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	510					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)		GCCATCACTTCCCAAGTTGAA	0.433000										TSP Lung(27;0.18)			10	62					1.58986e-06	1.70579e-06	1	1	0
ETV1	2115	broad.mit.edu	37	7	13971355	13971355	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:13971355C>G	ENST00000343495.5	-	8	1258	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	ETV1_ENST00000399357.3_Missense_Mutation_p.E89Q|ETV1_ENST00000403527.1_Missense_Mutation_p.E152Q|ETV1_ENST00000405218.2_Missense_Mutation_p.E192Q|ETV1_ENST00000420159.2_Missense_Mutation_p.E134Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E174Q|ETV1_ENST00000242066.5_Missense_Mutation_p.E174Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E192Q|ETV1_ENST00000405358.4_Missense_Mutation_p.E206Q|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.E192Q			P50549	ETV1_HUMAN	ets variant 1	192					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGGGTTCAGAAAGCTGG	0.468000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	34					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	12					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84777145	84777145	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:84777145G>C	ENST00000389394.3	+	9	1586	c.1449G>C	c.(1447-1449)tgG>tgC	p.W483C	DNAH6_ENST00000398278.2_Missense_Mutation_p.W483C|DNAH6_ENST00000237449.6_Missense_Mutation_p.W483C	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	483	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTCAGAAATGGATTACTGAAG	0.373000													18	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644785	179644785	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644785A>T	ENST00000589042.1	-	22	3895	c.3671T>A	c.(3670-3672)tTa>tAa	p.L1224*	TTN_ENST00000359218.5_Nonsense_Mutation_p.L1178*|TTN_ENST00000342992.6_Nonsense_Mutation_p.L1224*|TTN_ENST00000591111.1_Nonsense_Mutation_p.L1224*|TTN_ENST00000342175.6_Nonsense_Mutation_p.L1178*|TTN_ENST00000460472.2_Nonsense_Mutation_p.L1178*|TTN_ENST00000360870.5_Nonsense_Mutation_p.L1224*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1224							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)			CTTCCTAATTAAGGCTTGTtc	0.343000													35	61					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21465483	21465483	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:21465483T>G	ENST00000281523.2	-	7	1444	c.926A>C	c.(925-927)aAa>aCa	p.K309T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	309						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTCTGTAGTTTGTTGTAAGG	0.423000													12	84					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712175	41712175	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:41712175G>A	ENST00000373025.3	-	3	350	c.288C>T	c.(286-288)aaC>aaT	p.N96N	PGC_ENST00000425343.2_Silent_p.N96N	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	96					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCACCCACAAGTTGGAGGAGC	0.612000													21	50					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196967415	196967415	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:196967415T>A	ENST00000367414.5	+	7	1256	c.1200T>A	c.(1198-1200)aaT>aaA	p.N400K	CFHR5_ENST00000256785.4_Missense_Mutation_p.N376K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	376	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAAATGGAATCCTGAAGTAG	0.308000													10	29					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645613	7645613	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:7645613C>T	ENST00000340209.4	+	5	843	c.546C>T	c.(544-546)caC>caT	p.H182H	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Silent_p.H177H|RBFOX1_ENST00000550418.1_Silent_p.H177H|RBFOX1_ENST00000422070.4_Silent_p.H220H|RBFOX1_ENST00000355637.4_Silent_p.H197H|RBFOX1_ENST00000547338.1_Silent_p.H177H|RBFOX1_ENST00000552089.1_Silent_p.H194H|RBFOX1_ENST00000311745.5_Silent_p.H197H|RBFOX1_ENST00000547372.1_Silent_p.H220H|RBFOX1_ENST00000436368.2_Silent_p.H197H			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	177	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGAAATTACACGGCACCGTGG	0.448000													23	92					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303231	151303231	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:151303231C>T	ENST00000370323.4	-	4	1178	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.G288S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	288	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCACTGCCAGGCACCTGC	0.522000													69	36					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197889932	197889932	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:197889932T>A	ENST00000328737.2	-	17	1711	c.1635A>T	c.(1633-1635)ccA>ccT	p.P545P	ANKRD44_ENST00000450567.1_Silent_p.P545P|ANKRD44_ENST00000337207.5_Silent_p.P545P|ANKRD44_ENST00000282272.8_Silent_p.P562P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	570							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTAAGTGGAGTGGACTCTTAG	0.383000													30	51					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98986521	98986521	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:98986521C>T	ENST00000393504.1	+	2	500	c.83C>T	c.(82-84)gCt>gTt	p.A28V	CNGA3_ENST00000272602.2_Missense_Mutation_p.A28V|CNGA3_ENST00000436404.2_Missense_Mutation_p.A28V	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	28					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTCAATCGCGCTGAAAATGGC	0.502000													19	27					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248950	49248950	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:49248950C>A	ENST00000332955.2	-	2	714	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	56					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATTCTCTACCCTTTCCATCAT	0.552000													41	106					6.1244e-12	6.93202e-12	1	1	0
OPCML	4978	broad.mit.edu	37	11	132307139	132307139	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:132307139C>T	ENST00000331898.7	-	4	1219	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	OPCML_ENST00000541867.1_Missense_Mutation_p.R214Q|OPCML_ENST00000524381.1_Missense_Mutation_p.R207Q|OPCML_ENST00000374778.4_Missense_Mutation_p.R173Q|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.R207P(1)|p.R214P(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTACTTTCCGCACATCGGG	0.542000													16	68					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253977	174253977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:174253977C>T	ENST00000296503.5	-	4	1339	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	HMGB2_ENST00000446922.2_Missense_Mutation_p.E156K|HMGB2_ENST00000438704.2_Missense_Mutation_p.E156K			P26583	HMGB2_HUMAN	high mobility group box 2	156					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGTACCTTTTCATATTTCTCC	0.363000													85	116					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:13205963C>A	ENST00000319217.7	-	11	1673	c.1426G>T	c.(1426-1428)Gtc>Ttc	p.V476F	MPDZ_ENST00000541718.1_Missense_Mutation_p.V476F|MPDZ_ENST00000381015.4_Missense_Mutation_p.V476F|MPDZ_ENST00000536827.1_Missense_Mutation_p.V476F|MPDZ_ENST00000447879.1_Missense_Mutation_p.V476F|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476F|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.V476I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418000													4	39					2.56e-06	2.70441e-06	1	1	0
SMYD4	114826	broad.mit.edu	37	17	1690224	1690224	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:1690224C>A	ENST00000305513.7	-	7	1931	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	588							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GAGACCTCAGCTTCTGCTGCC	0.542000													13	18					1.49906e-05	1.56754e-05	1	1	0
DHX36	170506	broad.mit.edu	37	3	154027551	154027551	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:154027551C>T	ENST00000496811.1	-	5	784	c.704G>A	c.(703-705)gGc>gAc	p.G235D	DHX36_ENST00000329463.5_Missense_Mutation_p.G235D|DHX36_ENST00000308361.6_Missense_Mutation_p.G235D|DHX36_ENST00000544526.1_Missense_Mutation_p.G235D	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	235	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGTGGTTTTGCCACAACCAGT	0.338000													3	45					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813316	2813316	+	Silent	SNP	C	C	T	rs137907192	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:2813316C>T	ENST00000301740.8	+	11	3336	c.2787C>T	c.(2785-2787)agC>agT	p.S929S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	929	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACAAAGAAGCCATTCTGGCT	0.493000													6	93					0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1584327	1584327	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:1584327A>G	ENST00000566264.1	+	1	754	c.51A>G	c.(49-51)tcA>tcG	p.S17S	TMEM204_ENST00000253934.5_Silent_p.S17S|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	17					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCCTGGTCTCACTCATCCTCA	0.677000													5	58					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19473366	19473366	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:19473366G>T	ENST00000375267.2	-	52	7761	c.7758C>A	c.(7756-7758)aaC>aaA	p.N2586K	UBR4_ENST00000375226.2_Missense_Mutation_p.N2597K|UBR4_ENST00000375254.3_Missense_Mutation_p.N2586K|UBR4_ENST00000375217.2_Missense_Mutation_p.N2586K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2586					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGACAAGGTTGTTGGGGCGCA	0.517000													25	155					9.86323e-18	1.1351e-17	1	1	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					12	39					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176113	140176113	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:140176113C>T	ENST00000526136.1	+	1	1564	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S	PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGCAGCCGCTGGACCA	0.687000													4	93					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123983756	123983756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:123983756G>C	ENST00000306315.5	-	4	2756	c.2321C>G	c.(2320-2322)aCt>aGt	p.T774S	ZNF608_ENST00000504926.1_Missense_Mutation_p.T347S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	774						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGAACAACAGTTGTTGTGAG	0.552000													5	81					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40013068	40013068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:40013068C>T	ENST00000308666.3	-	1	485	c.350G>A	c.(349-351)aGa>aAa	p.R117K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	117	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R117T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAAAGGTTCTTGAGATTAG	0.413000													23	62					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932949	49932949	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:49932949G>T	ENST00000296474.3	-	13	3022	c.2995C>A	c.(2995-2997)Ctg>Atg	p.L999M	MST1R_ENST00000344206.4_Missense_Mutation_p.L950M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	999					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCTGGTCCAGGGATGCCAGG	0.567000													29	57					1.75199e-13	1.99397e-13	1	1	0
STOML1	9399	broad.mit.edu	37	15	74281034	74281034	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:74281034C>T	ENST00000316900.5	-	4	624	c.500G>A	c.(499-501)cGc>cAc	p.R167H	STOML1_ENST00000541638.1_Missense_Mutation_p.R125H|STOML1_ENST00000316911.6_Missense_Mutation_p.R117H|STOML1_ENST00000561656.1_Missense_Mutation_p.R80H|STOML1_ENST00000359750.4_Missense_Mutation_p.R167H|STOML1_ENST00000564777.1_Missense_Mutation_p.R117H	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	167						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGCTGTCATGCGTGTGGCTGT	0.602000													43	34					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178545579	178545579	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:178545579T>G	ENST00000286063.6	-	16	2715	c.2398A>C	c.(2398-2400)Atc>Ctc	p.I800L	PDE11A_ENST00000409504.1_Missense_Mutation_p.I442L|PDE11A_ENST00000449286.2_Missense_Mutation_p.I442L|PDE11A_ENST00000358450.4_Missense_Mutation_p.I550L|PDE11A_ENST00000389683.3_Missense_Mutation_p.I356L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGTTTTTGATGTTCCAATCG	0.318000									Primary Pigmented Nodular Adrenocortical Disease, Familial				7	39					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3425691	3425691	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:3425691C>T	ENST00000324266.5	+	4	1399	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R402C	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	402							binding										CCTGTGCGGACGTCTCCTCAC	0.587000													9	22					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018863	154018863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:154018863T>C	ENST00000496811.1	-	10	1351	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	DHX36_ENST00000329463.5_Missense_Mutation_p.Q424R|DHX36_ENST00000308361.6_Missense_Mutation_p.Q424R|DHX36_ENST00000544526.1_Missense_Mutation_p.Q424R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	424						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATGCCCTTGCATGAAACC	0.328000													60	83					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101967	69101967	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:69101967G>T	ENST00000332644.5	-	3	303	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	48	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATCACCTTGATAATAGTAA	0.328000													3	18					2.56e-06	2.70441e-06	1	1	0
PDE4B	5142	broad.mit.edu	37	1	66458824	66458824	+	Splice_Site	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:66458824T>C	ENST00000423207.2	+	1	720	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R	PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	94					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GGCTCATACATGGTAAGATAA	0.438000													18	40					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677925	25677925	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:25677925A>T	ENST00000382051.3	+	13	1677	c.1627A>T	c.(1627-1629)Acg>Tcg	p.T543S	SLC34A2_ENST00000504570.1_Missense_Mutation_p.T542S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.T542S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	543					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GATCCCGCTGACGGTGTTTGG	0.607000			T	ROS1	NSCLC								48	73					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45542227	45542227	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:45542227G>A	ENST00000291576.7	+	14	1933	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	602						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)		CCAAGCACGCGGCCAAGGGGA	0.582000													10	43					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171701	51171701	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:51171701G>A	ENST00000293441.1	-	22	3534	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S	SHANK1_ENST00000359082.3_Silent_p.S1163S|SHANK1_ENST00000391814.1_Silent_p.S1180S|SHANK1_ENST00000391813.1_Silent_p.S559S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1172					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCTGCCCTGGCTGCTGCGGC	0.761000													11	15					0	0	1	0	0
GPR89B	51463	broad.mit.edu	37	1	147400669	147400669	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:147400669C>G	ENST00000314163.7	+	1	164	c.20C>G	c.(19-21)tCc>tGc	p.S7C		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	7					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					CTGATCGACTCCAGCATCATG	0.662000													24	58					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012935	29012935	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:29012935A>G	ENST00000377175.1	-	1	82	c.18T>C	c.(16-18)taT>taC	p.Y6Y		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTAAAGAACTATAATTGCTTT	0.398000													28	51					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660991	63660991	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:63660991A>G	ENST00000409120.1	-	3	3687	c.137T>C	c.(136-138)gTt>gCt	p.V46A	WDPCP_ENST00000409199.1_Missense_Mutation_p.V46A|WDPCP_ENST00000272321.7_Missense_Mutation_p.V238A|WDPCP_ENST00000398544.3_Missense_Mutation_p.V79A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.V238A			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	238					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCAGCAAACAACTCTATCATG	0.433000													16	27					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3139839	3139839	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:3139839T>G	ENST00000446632.2	-	6	1077	c.503A>C	c.(502-504)cAg>cCg	p.Q168P	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q168P|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q168P|IL5RA_ENST00000256452.3_Missense_Mutation_p.Q168P|IL5RA_ENST00000383846.1_Missense_Mutation_p.Q168P|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q168P|IL5RA_ENST00000438560.1_Missense_Mutation_p.Q168P|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q168P	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	168					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGAAAATACTGCGTGTCCTC	0.408000													17	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575634	179575634	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179575634G>T	ENST00000589042.1	-	98	28414	c.28190C>A	c.(28189-28191)cCc>cAc	p.P9397H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8153H|TTN_ENST00000591111.1_Missense_Mutation_p.P9080H|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9080	Ig-like 77.						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)			GTCAAAGAAGGGTGGGTTCTT	0.483000													8	92					0.00621372	0.00636829	1	1	0
ZP4	57829	broad.mit.edu	37	1	238048117	238048117	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:238048117G>T	ENST00000366570.4	-	10	1500	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	448	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGCAGGCTGGCAGACTGAC	0.498000													9	23					2.74318e-10	3.0219e-10	1	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111929950	111929950	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr13:111929950A>C	ENST00000375741.2	+	14	1749	c.1499A>C	c.(1498-1500)tAt>tCt	p.Y500S	ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y479S|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.Y156S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y407S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y244S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y450S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y397S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	500	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AATGAAAGATATCTTCTACTC	0.279000													25	44					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37904018	37904018	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:37904018A>G	ENST00000199447.4	+	9	895	c.523A>G	c.(523-525)Aga>Gga	p.R175G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R175G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	175	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGAAATTAAAAGAAAAGTAAG	0.274000													3	12					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410829	5410829	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:5410829G>T	ENST00000328611.3	+	1	223	c.201G>T	c.(199-201)ctG>ctT	p.L67L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	67						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTCGTCTGCACACACCCA	0.463000													20	75					1.33834e-09	1.46648e-09	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87588277	87588277	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:87588277C>G	ENST00000320005.5	-	18	2232	c.2185G>C	c.(2185-2187)Gaa>Caa	p.E729Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	729					signal transduction|visual perception	integral to membrane	cGMP binding	p.E729fs*3(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tcttcattttctttttgttta	0.343000													4	79					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2121015	2121015	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:2121015C>A	ENST00000355272.6	-	14	1533	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	AP3D1_ENST00000350812.6_Missense_Mutation_p.D274Y|AP3D1_ENST00000356926.4_Missense_Mutation_p.D352Y|AP3D1_ENST00000345016.5_Missense_Mutation_p.D443Y	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	443					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ATGGCCACGTCCAGCATTTGG	0.652000													12	50					4.3838e-07	4.74598e-07	1	1	0
PIK3CB	5291	broad.mit.edu	37	3	138474750	138474750	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:138474750T>C	ENST00000477593.1	-	3	316	c.243A>G	c.(241-243)gcA>gcG	p.A81A	PIK3CB_ENST00000289153.2_Silent_p.A81A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	81	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATTCACACATGCAAACATAT	0.368000													21	99					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178183	20178183	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:20178183C>T	ENST00000227256.3	-	4	725	c.726G>A	c.(724-726)gcG>gcA	p.A242A	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CTCCGGGGGACGCACGGGGGC	0.622000													19	18					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:30934886C>A	ENST00000355537.3	+	2	564	c.417C>A	c.(415-417)ttC>ttA	p.F139L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637000													25	67					4.87955e-14	5.58438e-14	1	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37100399	37100399	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:37100399A>C	ENST00000421307.1	-	26	2174	c.1752T>G	c.(1750-1752)atT>atG	p.I584M	LRRFIP2_ENST00000336686.4_Missense_Mutation_p.I584M|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.I366M|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.I287M|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.I263M|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.I287M|MLH1_ENST00000536378.1_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	584					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCAGTTTTCTAATCTGAAATG	0.438000													9	59					0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5339616	5339616	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:5339616A>T	ENST00000223858.4	-	1	257	c.131T>A	c.(130-132)aTt>aAt	p.I44N	RLN1_ENST00000223862.1_Missense_Mutation_p.I44N			P04808	REL1_HUMAN	relaxin 1	44					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GCAAATGGCAATCTGCGCGCG	0.527000													4	56					0	0	1	0	0
FOXD2	2306	broad.mit.edu	37	1	47904133	47904134	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:47904133_47904134insGA	ENST00000334793.5	+	1	2445_2446	c.326_327insGA	c.(325-330)gggcccfs	p.P110fs		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	110					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ggcgcagcggggcccgggccgg	0.817													3	4	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452553	43452554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:43452553_43452554insC	ENST00000282388.3	-	2	682_683	c.389_390insG	c.(388-390)cgcfs	p.R130fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	130					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCTGGCTGCGATCGCCGTT	0.658													11	16	---	---	---	---					
OSBPL10	114884	broad.mit.edu	37	3	32022461	32022461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:32022461delG	ENST00000396556.2	-	1	333	c.211delC	c.(211-213)cgcfs	p.R73fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R73fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	73					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCCCTCCTGCGGCCGCCTCCC	0.776													8	5	---	---	---	---					
PLD1	5337	broad.mit.edu	37	3	171404550	171404550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:171404550delG	ENST00000351298.4	-	16	1918	c.1792delC	c.(1792-1794)catfs	p.H598fs	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Frame_Shift_Del_p.H598fs	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	598	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTAAACCATGGATTAAATTG	0.333													56	153	---	---	---	---					
HES1	3280	broad.mit.edu	37	3	193854476	193854478	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:193854476_193854478delTGA	ENST00000232424.3	+	2	415_417	c.179_181delTGA	c.(178-183)ctgatt>ctt	p.I61del		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	61	Helix-loop-helix motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CTGAAAACACTGATTTTGGATGC	0.389													23	48	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90571822	90571823	+	RNA	INS	-	-	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:90571822_90571823insT	ENST00000551025.1	+	0	1853							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		tataatttaactttttttttta	0.282													3	3	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	164	---	---	---	---					
EBF2	64641	broad.mit.edu	37	8	25718601	25718601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:25718601delC	ENST00000520164.1	-	13	1843	c.1306delG	c.(1306-1308)gtcfs	p.V436fs	EBF2_ENST00000408929.3_Frame_Shift_Del_p.V288fs|EBF2_ENST00000535548.1_Frame_Shift_Del_p.V167fs	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	436					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGATGCTGACCCCAAGCTGG	0.493													53	63	---	---	---	---					
PHF20L1	51105	broad.mit.edu	37	8	133854841	133854842	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:133854841_133854842insA	ENST00000395386.2	+	19	2768_2769	c.2469_2470insA	c.(2470-2472)aaafs	p.K824fs	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.K799fs|PHF20L1_ENST00000220847.7_Frame_Shift_Ins_p.K211fs|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	824							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGGGGTGGAGAAAAAAATAGC	0.381													12	26	---	---	---	---					
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:107361451_107361452delGC	ENST00000374779.2	-	1	336_337	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.510													7	55	---	---	---	---					
PTPN3	5774	broad.mit.edu	37	9	112151578	112151590	+	Frame_Shift_Del	DEL	GCCAAAACTGTGC	GCCAAAACTGTGC	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:112151578_112151590delGCCAAAACTGTGC	ENST00000412145.1	-	17	4336_4348	c.1783_1795delGCACAGTTTTGGC	c.(1783-1797)gcacagttttggcagfs	p.AQFWQ595fs	PTPN3_ENST00000446349.1_Frame_Shift_Del_p.AQFWQ550fs|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000374541.2_Frame_Shift_Del_p.AQFWQ726fs|PTPN3_ENST00000262539.3_Frame_Shift_Del_p.AQFWQ572fs|PTPN3_ENST00000394827.3_Frame_Shift_Del_p.AQFWQ194fs	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	726					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGACAACCTGCCAAAACTGTGCACAGGTATGC	0.465													16	21	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284601	+	RNA	DEL	AA	AA	-	rs79477301		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:14284600_14284601delAA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaaa	0.465													3	5	---	---	---	---					
OR8B2	26595	broad.mit.edu	37	11	124252689	124252690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:124252689_124252690insG	ENST00000375013.2	-	1	568_569	c.550_551insC	c.(550-552)ctcfs	p.L184fs		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGCTGGAGGAGGGGGAGTATG	0.500													11	57	---	---	---	---					
SYT1	6857	broad.mit.edu	37	12	79842725	79842726	+	In_Frame_Ins	INS	-	-	ACA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:79842725_79842726insACA	ENST00000261205.4	+	11	1747_1748	c.1090_1091insACA	c.(1090-1092)gac>gACAac	p.364_365insN	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_In_Frame_Ins_p.361_362insN|SYT1_ENST00000552744.1_In_Frame_Ins_p.364_365insN|SYT1_ENST00000393240.3_In_Frame_Ins_p.364_365insN	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	364	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AACTGTTTTGGACTATGACAAG	0.490													19	98	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													8	9	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256673	69256674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:69256673_69256674insA	ENST00000439696.2	-	2	894_895	c.593_594insT	c.(592-594)ctcfs	p.L198fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.L198fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	198					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTATGCTGGAGGCGGGGACG	0.688											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	29	---	---	---	---					
PDIA3	2923	broad.mit.edu	37	15	44055308	44055308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:44055308delC	ENST00000300289.5	+	5	654	c.506delC	c.(505-507)tccfs	p.S169fs	PDIA3_ENST00000538521.1_Frame_Shift_Del_p.S149fs	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	169					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GAGGCTCACTCCGAGTTCCTA	0.398													30	91	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													4	4	---	---	---	---