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
TAS1R1	80835	broad.mit.edu	37	1	6639227	6639227	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:6639227A>G	uc001ant.3	+	5	2205	c.2109A>G	c.(2107-2109)ccA>ccG	p.P703P	TAS1R1_uc001anu.3_Silent_p.P449P|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	703					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGGACCCCACTGCCTGCTA	0.577												
PABPC4	8761	broad.mit.edu	37	1	40029374	40029374	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:40029374G>A	uc001cdl.2	-	11	2478	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V	PABPC4_uc010oiv.1_Missense_Mutation_p.A511V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	511					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGCAACAGCAGCGCGTGG	0.572												
WDR47	22911	broad.mit.edu	37	1	109553699	109553699	+	Silent	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:109553699T>A	uc001dwl.3	-	4	1366	c.990A>T	c.(988-990)ggA>ggT	p.G330G	WDR47_uc001dwi.3_Silent_p.G323G|WDR47_uc001dwj.3_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.2_Silent_p.G250G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	323										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GACTGGTTAGTCCACAGGTGA	0.448												
RPTN	126638	broad.mit.edu	37	1	152127651	152127651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:152127651G>A	uc001ezs.1	-	2	1989	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	642	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTTCTGCTGTGAGTCCCTA	0.483												
PLXNA2	5362	broad.mit.edu	37	1	208205103	208205103	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:208205103C>T	uc001hgz.3	-	29	5814	c.5056_splice	c.e29-1	p.G1686_splice	PLXNA2_uc001hgy.3_5'Flank	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1686					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGGTGCCCTGGAGGAG	0.572												
KIAA1217	56243	broad.mit.edu	37	10	24832950	24832950	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:24832950C>A	uc001iru.4	+	18	5154	c.4751C>A	c.(4750-4752)gCt>gAt	p.A1584D	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.A1267D|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.A420D	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1584					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACTCGCCGCTCTCACTCAA	0.473												
AGAP7	653268	broad.mit.edu	37	10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:51464835C>T	uc001jio.3	-	6	1747	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	541	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572												
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
OR51B2	79345	broad.mit.edu	37	11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5344773G>A	uc001mao.1	-	0	810	c.755C>T	c.(754-756)aCa>aTa	p.T252I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393												
OR52D1	390066	broad.mit.edu	37	11	5510785	5510785	+	Silent	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5510785C>G	uc010qzg.2	+	0	871	c.849C>G	c.(847-849)ctC>ctG	p.L283L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTAATCTCTATGTGCTGG	0.493												
SLC17A6	57084	broad.mit.edu	37	11	22363249	22363249	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:22363249C>A	uc001mqk.3	+	1	675	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	88					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCGGTATCCGCTGCAACCT	0.642												
CD5	921	broad.mit.edu	37	11	60885944	60885944	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:60885944C>A	uc009ynk.3	+	2	495	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	131	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGGGCCTGACCTGCTTAGGT	0.607												
OR2AT4	341152	broad.mit.edu	37	11	74799893	74799893	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:74799893A>T	uc010rro.2	-	0	866	c.866T>A	c.(865-867)aTt>aAt	p.I289N		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGTTGAGAATTGGTGTGAG	0.488												
MLL	4297	broad.mit.edu	37	11	118382698	118382698	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:118382698G>C	uc001pta.3	+	30	11118	c.11095G>C	c.(11095-11097)Gaa>Caa	p.E3699Q	MLL_uc001ptb.3_Missense_Mutation_p.E3702Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3699	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAAAGTCCAGGAAGCTCGATC	0.418			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
OR8G2	26492	broad.mit.edu	37	11	124095935	124095935	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:124095935T>C	uc010saf.2	+	0	538	c.538T>C	c.(538-540)Ttt>Ctt	p.F180L		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	180						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTGAGACTCTTTTTGTGCAA	0.428												
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
ERP27	121506	broad.mit.edu	37	12	15073953	15073953	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:15073953G>A	uc001rco.3	-	3	384	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	121	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CAATGTCTTCGTCCTCTAAAT	0.378												
SLCO1B3	338821	broad.mit.edu	37	12	21175884	21175884	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:21175884T>C	uc010sil.2	+						SLCO1B3_uc010sim.2_Silent_p.S194S|SLCO1B3_uc010sin.2_Silent_p.S147S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGGGATTTCTTACATTGATG	0.383												
ABCD2	225	broad.mit.edu	37	12	40012546	40012546	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:40012546T>C	uc001rmb.2	-	0	1298	c.872A>G	c.(871-873)tAt>tGt	p.Y291C		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	291	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G290G(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						ATACCGCAAATAGCCTTTTCT	0.413												
AMHR2	269	broad.mit.edu	37	12	53823327	53823327	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:53823327G>A	uc001scx.2	+	7	1138	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AMHR2_uc009zmy.2_Missense_Mutation_p.G353D|AMHR2_uc021qyg.1_Missense_Mutation_p.G353D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	353	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGAGACCTGGGCCTTGCCTTG	0.572												
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383												
CORO1C	23603	broad.mit.edu	37	12	109052586	109052586	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:109052586G>C	uc009zva.3	-	4	766	c.717C>G	c.(715-717)ggC>ggG	p.G239G	CORO1C_uc001tnj.3_Silent_p.G186G|CORO1C_uc010sxf.2_Silent_p.G149G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	186					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGATCAGACTGCCATTCCGGT	0.433												
TRPV4	59341	broad.mit.edu	37	12	110226433	110226433	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110226433G>A	uc001tpj.2	-	11	2075	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	TRPV4_uc001tpg.2_Silent_p.C626C|TRPV4_uc021rdp.1_Silent_p.C600C|TRPV4_uc001tph.2_Silent_p.C613C|TRPV4_uc001tpi.2_Silent_p.C553C|TRPV4_uc001tpk.2_Silent_p.C660C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.C660C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCTGTCACGGCACGAGGGGT	0.597												
TRPV4	59341	broad.mit.edu	37	12	110238470	110238470	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110238470C>T	uc001tpj.2	-	3	901	c.806G>A	c.(805-807)cGt>cAt	p.R269H	TRPV4_uc001tpg.2_Missense_Mutation_p.R235H|TRPV4_uc021rdp.1_Missense_Mutation_p.R269H|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.R269H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	269			R -> C (in CMT2C).|R -> H (in CMT2C and DSMAC).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAAGCGCCCACGGGCCTGGGC	0.632												
RB1	5925	broad.mit.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr13:48951053G>C	uc001vcb.3	+	13	1382	c.1216_splice	c.e13-1	p.N406_splice	RB1_uc010act.1_Splice_Site_p.N107_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	406	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCCTAAAGAACTGCACAG	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
LEO1	123169	broad.mit.edu	37	15	52258194	52258194	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr15:52258194T>C	uc002abo.3	-	1	582	c.566A>G	c.(565-567)gAt>gGt	p.D189G	LEO1_uc010bfd.3_Missense_Mutation_p.D189G	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	189	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCCTCATCATCTGTGTTCTG	0.433												
PDILT	204474	broad.mit.edu	37	16	20380898	20380898	+	Silent	SNP	G	G	A	rs150342728	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:20380898G>A	uc002dhc.1	-	7	1255	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	344					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.D344D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468												
CHD9	80205	broad.mit.edu	37	16	53330872	53330872	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:53330872A>G	uc002ehb.3	+	28	5679	c.5515A>G	c.(5515-5517)Aca>Gca	p.T1839A	CHD9_uc002egy.3_Missense_Mutation_p.T1839A|CHD9_uc002ehc.3_Missense_Mutation_p.T1839A|CHD9_uc002ehf.3_Missense_Mutation_p.T953A|CHD9_uc002ehg.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.3_Missense_Mutation_p.T207A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1839					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATAGATGGACAAGAAGAGA	0.299												
ZFHX3	463	broad.mit.edu	37	16	72827367	72827367	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:72827367C>T	uc002fck.3	-	8	9887	c.9214G>A	c.(9214-9216)Gta>Ata	p.V3072I	ZFHX3_uc002fcl.3_Missense_Mutation_p.V2158I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3072					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T3071T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTGACGTACGGTGGCTGGG	0.488												
ARHGAP44	9912	broad.mit.edu	37	17	12847456	12847456	+	Silent	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:12847456C>T	uc002gnr.4	+	9	1131	c.804C>T	c.(802-804)atC>atT	p.I268I	ARHGAP44_uc010vvk.2_Silent_p.I268I|ARHGAP44_uc010vvl.2_Silent_p.I268I|ARHGAP44_uc002gns.4_Silent_p.I68I|ARHGAP44_uc010vvm.2_Silent_p.I268I|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	268	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCGGGAGATCGCCTTCCCCA	0.632												
CPD	1362	broad.mit.edu	37	17	28770823	28770823	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770823C>A	uc002hfb.2	+	10	2434	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	CPD_uc010wbo.2_Missense_Mutation_p.H546N|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	793	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCCAGGTTCATCAGGGCGT	0.378												
CPD	1362	broad.mit.edu	37	17	28770972	28770972	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770972C>G	uc002hfb.2	+	10	2583	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	CPD_uc010wbo.2_Missense_Mutation_p.I595M|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	842	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTATAAAATCACAGCATCTG	0.423												
SLC4A1	6521	broad.mit.edu	37	17	42337808	42337808	+	Missense_Mutation	SNP	C	C	T	rs55735880		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42337808C>T	uc002igf.4	-	5	598	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC4A1_uc021tyc.1_Missense_Mutation_p.R150Q	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	150					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607												
GJC1	10052	broad.mit.edu	37	17	42882259	42882259	+	Silent	SNP	G	G	T	rs138440006		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42882259G>T	uc002ihj.3	-	1	1438	c.927C>A	c.(925-927)atC>atA	p.I309I	GJC1_uc002ihk.3_Silent_p.I309I|GJC1_uc002ihl.3_Silent_p.I309I|GJC1_uc021tyf.1_Silent_p.I309I	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	309					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCTTGTAGGCGATCTTAGCAT	0.507												
FMNL1	752	broad.mit.edu	37	17	43322740	43322740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:43322740C>T	uc002iin.3	+	21	3049	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	FMNL1_uc002iiq.3_Missense_Mutation_p.S528L|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.S277L|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	950	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGGCCAACTCGCCCACCATG	0.617												
C17orf47	284083	broad.mit.edu	37	17	56621327	56621327	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:56621327T>A	uc002iwq.2	-	0	407	c.221A>T	c.(220-222)cAg>cTg	p.Q74L		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	74										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGTCCTGACTGGAGGGAGAC	0.567												
USP32	84669	broad.mit.edu	37	17	58258719	58258719	+	Missense_Mutation	SNP	C	C	T	rs17405739	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:58258719C>T	uc002iyo.1	-	31	4800	c.4514G>A	c.(4513-4515)cGt>cAt	p.R1505H	USP32_uc002iyn.1_Missense_Mutation_p.R1175H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1505					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGGCTTAATACGAGTATCTTC	0.383												
GAA	2548	broad.mit.edu	37	17	78081639	78081639	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:78081639C>T	uc002jxp.3	+	4	1266	c.899C>T	c.(898-900)gCg>gTg	p.A300V	GAA_uc002jxo.3_Missense_Mutation_p.A300V|GAA_uc002jxq.3_Missense_Mutation_p.A300V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	300					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCTACCTGGCGCTGGAGGAC	0.697												
MUC16	94025	broad.mit.edu	37	19	9056586	9056586	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:9056586G>T	uc002mkp.3	-	2	31064	c.30860C>A	c.(30859-30861)aCt>aAt	p.T10287N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10289	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAAATGAAGTCATGGCCTC	0.493												
NR1H2	7376	broad.mit.edu	37	19	50882004	50882004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:50882004delC	uc010enw.3	+	5	1167	c.698delC	c.(697-699)gccfs	p.A233fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Del_p.A136fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	233	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.A232T(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTGGTGGCGGCCCAACTGCAG	0.612												
ADD2	119	broad.mit.edu	37	2	70890611	70890611	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:70890611G>C	uc021vjc.1	-	15	2392	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.F709L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	709	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527												
CLASP1	23332	broad.mit.edu	37	2	122216417	122216417	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:122216417C>T	uc002tnc.3	-	13	1704	c.1314_splice	c.e13+1	p.R438_splice	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Splice_Site|CLASP1_uc002tnb.3_Splice_Site|CLASP1_uc010yyx.2_Splice_Site|CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.R438_splice|CLASP1_uc010yza.2_Splice_Site_p.R438_splice|CLASP1_uc021vnl.1_Splice_Site_p.R438_splice|CLASP1_uc010yzc.2_Splice_Site|CLASP1_uc002tng.1_Splice_Site_p.R438_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	438					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CATACTTACCCGAATAATTAA	0.338												
MBD5	55777	broad.mit.edu	37	2	149220206	149220206	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:149220206G>A	uc002twm.4	+	6	1166	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MBD5_uc010zbs.2_Non-coding_Transcript	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	57	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGCTTACTGATGGAACATG	0.353												
PMS1	5378	broad.mit.edu	37	2	190660525	190660525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:190660525C>T	uc002urh.4	+	2	692	c.163C>T	c.(163-165)Cga>Tga	p.R55*	PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Nonsense_Mutation_p.R55*|PMS1_uc002uri.4_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.3_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	55					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATTGAGGTGCGAGATAACGG	0.323			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)				
DYTN	391475	broad.mit.edu	37	2	207530695	207530695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:207530695G>A	uc002vbr.1	-	9	1156	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	347						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTCCTGGGAGGTGTAT	0.408												
WNT10A	80326	broad.mit.edu	37	2	219745829	219745829	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:219745829A>T	uc002vjd.1	+	1	576	c.113_splice	c.e1+1	p.R38_splice		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	38					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCATGCCCAGGTGAGCCCT	0.687												
KCNJ13	3769	broad.mit.edu	37	2	233632952	233632952	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:233632952A>G	uc002vto.3	-	1	1075	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Silent_p.N344N|KCNJ13_uc021vyk.1_Silent_p.N264N	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	344						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGCTTTGTCCATTGATGTGGA	0.383												
SIRPG	55423	broad.mit.edu	37	20	1616837	1616837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:1616837G>A	uc002wfm.1	-	2	810	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	249					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCTCTACCTCGGATGGCCTCA	0.622												
PLK1S1	55857	broad.mit.edu	37	20	21143753	21143753	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:21143753C>G	uc002wsb.3	+	5	1438	c.1305C>G	c.(1303-1305)agC>agG	p.S435R	PLK1S1_uc010zsh.2_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.2_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	435					spindle organization	centrosome	protein kinase binding										AAACCCTAAGCTCTCCTGATT	0.368												
PYGB	5834	broad.mit.edu	37	20	25271172	25271172	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:25271172G>T	uc002wup.3	+	15	1992	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V	BC128043_uc010gdm.1_5'Flank	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	628					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	p.G628G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACCTCCATCGGCGACGTCGTC	0.522												
SLC32A1	140679	broad.mit.edu	37	20	37356106	37356106	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:37356106G>C	uc002xjc.3	+	1	665	c.402G>C	c.(400-402)gtG>gtC	p.V134V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	134					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCATGTTCGTGCTGGGCCTAC	0.647												
CASS4	57091	broad.mit.edu	37	20	55033502	55033502	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:55033502T>A	uc002xxp.2	+	6	2285	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	CASS4_uc010zze.1_Missense_Mutation_p.I633N|CASS4_uc002xxr.2_Missense_Mutation_p.I687N|CASS4_uc010gio.2_Missense_Mutation_p.I250N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	687					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCAAAGCCATCAGCGCATTT	0.577												
SLCO4A1	28231	broad.mit.edu	37	20	61288142	61288142	+	Silent	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:61288142C>T	uc002ydb.1	+	1	541	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	112					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCCGCATTCCTGC	0.647												
POTEH	23784	broad.mit.edu	37	22	16287657	16287657	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:16287657T>C	uc010gqp.2	-	0	281	c.229A>G	c.(229-231)Aag>Gag	p.K77E	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	77								p.G76C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGTTGCTCTTGCCGCTCCCC	0.587												
ELFN2	114794	broad.mit.edu	37	22	37769172	37769172	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:37769172G>A	uc003asq.4	-	2	3189	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	ELFN2_uc021wph.1_Silent_p.D801D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	801						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGATCCTCGTCCTTGGCGA	0.632												
CAND2	23066	broad.mit.edu	37	3	12856711	12856711	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr3:12856711G>T	uc003bxk.2	+	7	1127	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	CAND2_uc003bxj.2_Missense_Mutation_p.A267S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	360					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGTGCATCGCAGCCTTGAT	0.597												
SLC7A11	23657	broad.mit.edu	37	4	139100426	139100426	+	Silent	SNP	C	C	A	rs145453312	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr4:139100426C>A	uc021xrw.1	-	10	1669	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	463					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AGAGATAATACGCAGGGACTC	0.423												
CARD6	84674	broad.mit.edu	37	5	40843343	40843343	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:40843343C>A	uc003jmg.3	+	1	448	c.373C>A	c.(373-375)Cct>Act	p.P125T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	125					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATAAAACAGCCTGAAGCCCC	0.403												
HARS	3035	broad.mit.edu	37	5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	rs151258227		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140056309C>T	uc003lgv.3	-	9	1206	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	HARS_uc003lgu.3_Missense_Mutation_p.R306H|HARS_uc011czm.2_Missense_Mutation_p.R335H|HARS_uc003lgw.3_Missense_Mutation_p.R355H|HARS_uc011czn.2_Missense_Mutation_p.R315H|HARS_uc011czo.2_Missense_Mutation_p.R301H|HARS_uc011czp.2_Missense_Mutation_p.R261H|HARS_uc011czq.2_Missense_Mutation_p.R265H	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	375					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597												
PCDHB13	56123	broad.mit.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140594357C>T	uc003lja.1	+	0	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532												
RREB1	6239	broad.mit.edu	37	6	7229251	7229251	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:7229251C>T	uc003mxb.3	+	9	1411	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RREB1_uc021yky.1_Missense_Mutation_p.R307W|RREB1_uc003mxc.3_Missense_Mutation_p.R307W|RREB1_uc010jnx.3_Missense_Mutation_p.R307W|RREB1_uc021ykz.1_Missense_Mutation_p.R307W|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	307					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACAAACCTGCGGAGGTGCAT	0.507												
TDP2	51567	broad.mit.edu	37	6	24658115	24658115	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:24658115T>C	uc003nej.3	-	3	467	c.442A>G	c.(442-444)Ata>Gta	p.I148V	TDP2_uc010jpu.1_Missense_Mutation_p.I148V	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	148					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGTAGAAATATCACATCTGGG	0.313								Direct reversal of damage				
MDC1	9656	broad.mit.edu	37	6	30671570	30671570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:30671570G>A	uc003nrg.4	-	9	5830	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	MDC1_uc003nrf.4_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1797	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGAACCTAGATCTACCTGC	0.537								Other conserved DNA damage response genes				
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343												
PMS2	5395	broad.mit.edu	37	7	6026906	6026906	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:6026906C>T	uc003spl.3	-	10	1577	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	PMS2_uc003spj.3_Missense_Mutation_p.G391D|PMS2_uc003spk.3_Missense_Mutation_p.G362D|PMS2_uc011jwl.2_Missense_Mutation_p.G362D|PMS2_uc010ktg.3_Missense_Mutation_p.G186D|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.G497D	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	497					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGAAGTGCTGCCGTGCCCCGA	0.632			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
ARPP21	445347	broad.mit.edu	37	7	38305013	38305013	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:38305013C>T	uc003tge.1	-	4	1071	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	ARPP21_uc022aby.1_Missense_Mutation_p.V28I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.V28I|ARPP21_uc003tgc.1_Missense_Mutation_p.V28I|ARPP21_uc003tgd.1_Missense_Mutation_p.V28I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCATGTCTGACGATACATCTG	0.393												
PCLO	27445	broad.mit.edu	37	7	82584287	82584287	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:82584287T>C	uc003uhx.2	-	4	6271	c.5982A>G	c.(5980-5982)agA>agG	p.R1994R	PCLO_uc003uhv.2_Silent_p.R1994R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1925					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTGAAAGTCTTATCTTTT	0.388												
TRRAP	8295	broad.mit.edu	37	7	98509724	98509724	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:98509724G>A	uc003upp.3	+	17	2296	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRRAP_uc011kis.2_Missense_Mutation_p.R696H|TRRAP_uc003upr.3_Missense_Mutation_p.R388H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	696					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGATCGCCTGCCAGAA	0.468												
PLOD3	8985	broad.mit.edu	37	7	100852149	100852149	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:100852149T>C	uc003uyd.3	-	15	2229	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	591					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGCCGCCTGACCACTGGC	0.582												
KIAA1549	57670	broad.mit.edu	37	7	138603251	138603251	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:138603251G>A	uc011kql.2	-	1	1170	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P374L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	374						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACATCAGTTGGTGAAGCAGA	0.507			O	BRAF	pilocytic astrocytoma							
TRPV5	56302	broad.mit.edu	37	7	142609825	142609825	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:142609825A>G	uc003wby.1	-	12	1875	c.1611T>C	c.(1609-1611)ttT>ttC	p.F537F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	537					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAACAGTGAGAAAAAGCTCAA	0.502												
ASIC3	9311	broad.mit.edu	37	7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:150749681C>T	uc003wio.2	+	10	1926	c.1558C>T	c.(1558-1560)Ccg>Tcg	p.P520S	ASIC3_uc003win.2_Missense_Mutation_p.A513V|ASIC3_uc003wip.2_Silent_p.C493C|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	508					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTCCCTGTGCCGTCACCAAG	0.632												
ECM2	1842	broad.mit.edu	37	9	95263237	95263237	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr9:95263237A>G	uc011lty.2	-	8	1890	c.1703T>C	c.(1702-1704)aTt>aCt	p.I568T	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.I546T|ECM2_uc004asg.3_Missense_Mutation_p.I546T|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	568					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATCCGTTCAATCTGGTTCCC	0.478												
RIBC1	158787	broad.mit.edu	37	X	53455349	53455349	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:53455349G>A	uc004dsk.3	+	4	522	c.318G>A	c.(316-318)aaG>aaA	p.K106K	RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	106										lung(2)	2						AGCAGCTCAAGAACGGGCGTG	0.512												
CT45A5	441521	broad.mit.edu	37	X	134947910	134947910	+	Nonsense_Mutation	SNP	G	G	A	rs146235294	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:134947910G>A	uc004eze.3	-	2	660	c.415C>T	c.(415-417)Cga>Tga	p.R139*	CT45A5_uc022ces.1_Nonsense_Mutation_p.R139*|CT45A5_uc011mvu.2_Nonsense_Mutation_p.R139*	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						TACTTACTTCGTCCAAGGCAT	0.383												
AFF2	2334	broad.mit.edu	37	X	148069012	148069012	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:148069012G>A	uc004fcp.3	+	19	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_uc004fcq.3_Missense_Mutation_p.V1237I|AFF2_uc004fcr.3_Missense_Mutation_p.V1208I|AFF2_uc011mxb.2_Missense_Mutation_p.V1212I|AFF2_uc004fcs.3_Missense_Mutation_p.V1212I|AFF2_uc011mxc.2_Missense_Mutation_p.V888I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1247					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498												
