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
C1orf116	79098	broad.mit.edu	37	1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	uc001hfd.2	-	3	2048	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_uc009xcb.1_Missense_Mutation_p.G351R|C1orf116_uc021pii.1_Missense_Mutation_p.G351R	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	597						cytoplasm|plasma membrane	receptor activity	p.G597R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562000													4	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486462	179486462	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:179486462T>G	uc021vsy.1	-	193	37610	c.37385A>C	c.(37384-37386)gAa>gCa	p.E12462A	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6157A|TTN_uc021vta.1_Missense_Mutation_p.E6090A|TTN_uc021vtb.1_Missense_Mutation_p.E5965A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13389							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)		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)			AAAGACAGCTTCTTCTTCTGC	0.353000													9	66					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206811	58206811	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:58206811C>A	uc010rkh.2	-	0	836	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272S(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCCATTTTGTCT	0.433000													6	107					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22276946	22276946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:22276946C>T	uc001mqi.2	+	12	1527	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ANO5_uc001mqj.2_Nonsense_Mutation_p.R403*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	404						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGAAACAACGACAAGCCAG	0.338000													4	240					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	uc011muk.1	-	22	2942	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.Y943*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.Y931*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Y931*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	943					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.Y943*(3)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328000													69	20					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	uc003kuy.3	+	7	1754	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_uc003kuz.3_Missense_Mutation_p.F453Y	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	453					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.F453Y(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393000													96	222					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581402	26581402	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:26581402C>T	uc001isp.2	+	13	1898	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	GAD2_uc001isq.2_Silent_p.T465T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	465					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T465T(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGGACTACCGGGTTTGAAG	0.468000													34	82					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249852	133249852	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:133249852C>T	uc001uks.1	-	13	1415	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.T430T	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	457					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	p.T457T(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACACAGAATACGTGGCCAGAG	0.527000								DNA polymerases (catalytic subunits)					45	76					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21435407	21435407	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:21435407T>C	uc001iqm.3	-	0	82	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.M11V	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	11										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATGCTTTCCATAGAGTAGATT	0.383000													4	201					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:114442814G>A	uc001eeb.3	-	4	1012	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Missense_Mutation_p.R108W|AP4B1_uc010owp.2_Missense_Mutation_p.R177W|AP4B1_uc001eed.3_Missense_Mutation_p.R276W|AP4B1_uc001eea.1_Missense_Mutation_p.R70W|AP4B1_uc010owq.2_Missense_Mutation_p.R183W	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(4)|p.R276L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483000													13	101					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784708	62784708	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:62784708C>A	uc001src.2	+	14	1984	c.1909C>A	c.(1909-1911)Caa>Aaa	p.Q637K	USP15_uc001srb.2_Missense_Mutation_p.Q608K	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	637					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q608K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTAAGGACCAAAATATTAA	0.348000													3	104					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368837	158368837	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	uc010pih.2	-	0	420	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473000													7	202					0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66122817	66122817	+	RNA	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:66122817G>A	uc002jgq.3	+	5		c.1940G>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GGAGCAGTCCGTCTTCAAGGT	0.507000													57	89					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55707952	55707952	+	Missense_Mutation	SNP	G	G	A	rs138080428	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:55707952G>A	uc002qjq.3	-	9	2268	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PTPRH_uc010esv.3_Missense_Mutation_p.T554M|PTPRH_uc002qjs.2_Missense_Mutation_p.T739M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	732	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T732M(4)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGATGGTCGTGATGGTGGC	0.632000													44	53					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21033374	21033374	+	Missense_Mutation	SNP	G	G	A	rs146618931	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:21033374G>A	uc010vbe.2	-	39	5695	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(3)		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)		CAATGAAGGCGACCAAATTCC	0.458000													20	36					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32759237	32759237	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr13:32759237C>T	uc001utx.3	+	25	3767	c.3271C>T	c.(3271-3273)Cgg>Tgg	p.R1091W	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1091					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R1091W(2)|p.R1091L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAAGATATCCGGGCACATTT	0.428000													14	200					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	uc003tvy.3	+	6	1094	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_uc003tvz.3_Missense_Mutation_p.G64E	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	365	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G365E(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512000													15	212					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	uc003jhl.3	+	19	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_uc003jhm.3_Missense_Mutation_p.G1356D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1356					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1356D(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597000													4	29					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:131308476G>A	uc003kvx.2	-	12	1388	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.R392W|ACSL6_uc003kvy.2_Missense_Mutation_p.R427W|ACSL6_uc003kvz.2_Missense_Mutation_p.R327W|ACSL6_uc021ydh.1_Missense_Mutation_p.R327W|ACSL6_uc010jdo.2_Missense_Mutation_p.R402W|ACSL6_uc003kwa.2_Missense_Mutation_p.R413W|ACSL6_uc003kvw.2_Missense_Mutation_p.R48W|ACSL6_uc010jdn.2_Missense_Mutation_p.R417W	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	402					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438000													4	183					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	uc001ntw.3	-	0	249	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_5'UTR|B3GAT3_uc010rlz.2_Missense_Mutation_p.N7K	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	7					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.N7K(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726000													9	19					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14095117	14095117	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:14095117G>A	uc003wwq.3	-	3	1068	c.408C>T	c.(406-408)acC>acT	p.T136T	SGCZ_uc010lss.3_Silent_p.T89T	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	123					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.T136T(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCAGCTGTCCGGTTAACTGCC	0.403000													67	519					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	uc003apk.1	-	1	192	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	39					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	p.P39S(2)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552000													35	86					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	uc003ale.3	+	9	1360	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_uc003ald.1_Missense_Mutation_p.F299L|SFI1_uc003alf.3_Missense_Mutation_p.F323L|SFI1_uc003alg.3_Missense_Mutation_p.F241L|SFI1_uc011alp.2_Missense_Mutation_p.F241L|SFI1_uc011alq.2_Missense_Mutation_p.F299L|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	323					G2/M transition of mitotic cell cycle	centriole|cytosol		p.F323L(2)|p.Y322fs*70(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547000													3	94					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993657	96993657	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:96993657C>T	uc002svy.3	+	0	1723	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	ITPRIPL1_uc002svx.3_Missense_Mutation_p.R430W|ITPRIPL1_uc010yuk.2_Missense_Mutation_p.R422W|ITPRIPL1_uc010yul.2_Missense_Mutation_p.R422W	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	430						integral to membrane		p.R438W(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAAGTCTCCGGCAGCATCA	0.557000													4	183					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295481	29295481	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:29295481G>A	uc002rmt.2	-	0	1647	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	549					response to stimulus|visual perception	photoreceptor outer segment		p.S549S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582000													48	101					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	uc002bmq.2	-	2	790	c.601G>C	c.(601-603)Gac>Cac	p.D201H	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.D190H|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	190						nucleus		p.D201H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522000													23	46					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:89974189G>A	uc003pnb.2	-	7	1111	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	GABRR2_uc011dzx.1_Missense_Mutation_p.A244V	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	368					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GTTGACAGCCGCATACTCCAG	0.597000													3	62					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	uc003tem.4	-	17	1503	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F	DPY19L1_uc003ten.1_5'Flank	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	453						integral to membrane		p.Y453F(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363000													6	203					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:149858030C>T	uc001etc.3	-	0	203	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(4)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													5	304					0	0	1	0	0
ZNF187	7741	broad.mit.edu	37	6	28244013	28244013	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:28244013A>G	uc011dlc.2	+	4	847	c.577A>G	c.(577-579)Aca>Gca	p.T193A	ZNF187_uc003nku.4_Missense_Mutation_p.T59A|ZNF187_uc003nkw.4_Missense_Mutation_p.T40A|ZNF187_uc011dle.2_Missense_Mutation_p.T40A|ZNF187_uc011dlf.2_5'UTR|ZNF187_uc011dld.2_Missense_Mutation_p.T192A|ZNF187_uc011dlg.2_Missense_Mutation_p.T40A	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	193					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TATTGTAGTAACAGACTCTTG	0.423000													8	80					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	uc010uym.2	-	13	3430	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_uc002czo.4_Missense_Mutation_p.E1040D|GRIN2A_uc010uyn.2_Missense_Mutation_p.E883D|GRIN2A_uc002czr.4_Missense_Mutation_p.E1040D	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1040					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1040D(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGTCCTATTCTCTGCTGTTG	0.532000													100	232					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69844762	69844762	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	uc004dyl.3	-	19	1828	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_uc004dyk.3_Missense_Mutation_p.I231V|TEX11_uc004dym.3_Missense_Mutation_p.I541V	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	556							protein binding	p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318000													4	39					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769517	31769517	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:31769517C>T	uc002nsy.4	-	1	1247	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	394					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	p.S211S(1)|p.S394S(1)		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)					GGGTGTCATGCGAGCTCCCAC	0.557000													7	222					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	uc001dei.1	-	5	651	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.N199K(2)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388000													3	102					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127737879	127737879	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	uc001ljk.2	-	15	2282	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_uc010qul.1_Silent_p.G574G|ADAM12_uc001ljm.3_Silent_p.G623G|ADAM12_uc001ljn.3_Silent_p.G620G|ADAM12_uc001ljl.4_Silent_p.G620G	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	623	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G623G(5)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532000													139	266					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	uc001wag.3	+	17	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_uc001wah.3_Nonsense_Mutation_p.Y644*|RPGRIP1_uc001wai.3_Nonsense_Mutation_p.Y328*|RPGRIP1_uc001wak.3_Nonsense_Mutation_p.Y477*|RPGRIP1_uc010aim.3_Nonsense_Mutation_p.Y385*|RPGRIP1_uc001wal.3_Nonsense_Mutation_p.Y361*|RPGRIP1_uc001wam.3_Nonsense_Mutation_p.Y319*	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	1002	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428000													3	110					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462414	17462414	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:17462414G>A	uc002wpm.3	+	11	1970	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	PCSK2_uc002wpl.3_Missense_Mutation_p.R520H|PCSK2_uc010zrm.2_Missense_Mutation_p.R504H|PCSK2_uc002wpn.3_Missense_Mutation_p.R193H	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	539					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R539H(2)|p.R539S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCCGGCGTCCAAGGGAT	0.577000													28	38					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587385	57587385	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:57587385G>A	uc001snd.3	+	46	8187	c.7721G>A	c.(7720-7722)aGc>aAc	p.S2574N	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2574	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S2574N(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGTGCAGCAATGGGCGC	0.612000													3	48					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725158	158725158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158725158C>A	uc001fsw.1	+	0	553	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185I(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTCCTTGTGCTTCCTGAGAT	0.488000													7	122					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	uc021rve.1	-	2	1025	c.931A>G	c.(931-933)Acc>Gcc	p.T311A	ZFP36L1_uc001xki.2_Missense_Mutation_p.T242A|ZFP36L1_uc001xkh.2_Missense_Mutation_p.T242A	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	242	Poly-Ser.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T242A(1)		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)		TCGGGCAGGGTAGGTGAGCCC	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	179					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	uc003gru.4	-	14	2497	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_uc003grv.3_Missense_Mutation_p.K189R	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	782						integral to membrane	binding	p.K782R(2)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418000													58	110					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:21229067C>T	uc002red.3	-	25	10801	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463000													49	90					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:33762727G>T	uc002xbt.3	+	1	477	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	98					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity	p.R98L(4)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726000													5	9					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6964975	6964975	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:6964975G>A	uc001qri.4	+	2	353	c.294G>A	c.(292-294)cgG>cgA	p.R98R	USP5_uc001qrh.4_Silent_p.R98R	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	98					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCACGCGGCTGGCTATTG	0.582000													4	159					0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30517984	30517984	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr18:30517984G>A	uc010xbr.1	-	22	2809	c.2667C>T	c.(2665-2667)aaC>aaT	p.N889N	C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.N329N|C18orf34_uc002kxn.2_Silent_p.N865N|C18orf34_uc010dmf.1_Silent_p.N185N|C18orf34_uc002kxo.2_Silent_p.N827N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	865								p.N865N(1)|p.N827N(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTTAACCATCGTTTTCGCATG	0.368000													37	67					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:180432367C>T	uc003mmr.3	+	7	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L	BTNL3_uc010jlp.3_Missense_Mutation_p.P84L	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	299	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.P299L(2)|p.H298Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537000													42	101					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721617	26721617	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:26721617T>G	uc003xfc.1	-	0	1306	c.870A>C	c.(868-870)ttA>ttC	p.L290F	ADRA1A_uc010lul.1_Missense_Mutation_p.L290F|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.L290F|ADRA1A_uc010lum.1_Missense_Mutation_p.L290F|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.L290F|ADRA1A_uc003xfh.1_Missense_Mutation_p.L290F|ADRA1A_uc022atd.1_Missense_Mutation_p.L290F	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	290					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.L290F(6)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGGCATGACTAAGAAAAAAG	0.562000													4	39					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170677648	170677648	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:170677648G>A	uc002ufn.3	-	2	606	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_uc002ufo.3_Silent_p.F120F|METTL5_uc002ufp.3_Silent_p.F120F	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	Homo sapiens methyltransferase like 5 (METTL5), mRNA.	120							methyltransferase activity|nucleic acid binding	p.F120F(4)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303000													4	117					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645571	7645571	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:7645571C>T	uc002cys.2	+	7	1477	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RBFOX1_uc010buf.1_Silent_p.F163F|RBFOX1_uc002cyr.1_Silent_p.F162F|RBFOX1_uc002cyt.2_Silent_p.F163F|RBFOX1_uc010uxz.1_Silent_p.F206F|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.F163F|RBFOX1_uc010uyb.1_Silent_p.F163F|RBFOX1_uc002cyw.2_Silent_p.F183F|RBFOX1_uc002cyy.2_Silent_p.F183F|RBFOX1_uc002cyx.2_Silent_p.F183F|RBFOX1_uc010uyc.1_Silent_p.F183F	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	163	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.F183F(2)		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						TCGTAACTTTCGAAAATAGTG	0.453000													89	126					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142226017	142226017	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:142226017G>A	uc003ywd.1	-	5	1937	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC45A4_uc003ywc.1_Silent_p.Y543Y|SLC45A4_uc010meq.1_Silent_p.Y541Y	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	594					transport	integral to membrane		p.Y543Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCCCAGCACGTAGATCACCC	0.602000													8	39					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	uc001ebb.3	-	9	973	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_uc010owe.2_Missense_Mutation_p.L248V|WDR77_uc021orq.1_Splice_Site_p.L312_splice	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	312					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.L312V(2)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537000													13	130					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	uc001jis.4	+	7	1135	c.932C>T	c.(931-933)tCc>tTc	p.S311F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.S327F|NCOA4_uc010qhd.2_Missense_Mutation_p.S327F|NCOA4_uc010qhe.2_Missense_Mutation_p.S211F|NCOA4_uc010qhf.2_Missense_Mutation_p.S145F|NCOA4_uc001jit.3_Missense_Mutation_p.S311F|NCOA4_uc009xoo.3_Missense_Mutation_p.S311F	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	311					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438000			T	RET	papillary thyroid								43	82					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179452332	179452332	+	Silent	SNP	C	C	T	rs141202947		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:179452332C>T	uc001gmo.3	+	17	2454	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.N647N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	689								p.N689N(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATTAACAACGGTAACATTG	0.348000													38	144					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	uc001ntl.3	-	4	15485	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5062					nervous system development	nucleus	protein binding	p.V5062G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463000													7	408					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636835	152636835	+	Missense_Mutation	SNP	G	G	A	rs113433987		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:152636835G>A	uc021ozb.1	+	0	254	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	LCE2D_uc001fag.3_Missense_Mutation_p.R85Q	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	85	Cys-rich.				keratinization			p.R85Q(2)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGGCGCCGGCACCAGAGC	0.677000													35	52					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	uc003xyg.2	+	12	2027	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_uc010lza.1_Missense_Mutation_p.T489M|SULF1_uc003xyd.2_Missense_Mutation_p.T489M|SULF1_uc003xye.2_Missense_Mutation_p.T489M|SULF1_uc003xyf.2_Missense_Mutation_p.T489M|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	489					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.T489M(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522000													22	85					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189874962	189874962	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	uc002uqj.1	+	48	3999	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1294	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.C1294C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGTATTCTGTAATATGGAAA	0.403000													45	132					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890232	228890232	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:228890232C>T	uc002vpq.2	-	4	366	c.319G>A	c.(319-321)Gtt>Att	p.V107I	SPHKAP_uc002vpp.2_Missense_Mutation_p.V107I|SPHKAP_uc010zlx.1_Missense_Mutation_p.V107I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	107						cytoplasm	protein binding	p.V107I(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTGAAACGTTGACCAGT	0.348000													28	151					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	uc010axc.1	-	6	15284	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_uc021sen.1_Missense_Mutation_p.G452A|AHNAK2_uc021seo.1_Missense_Mutation_p.G53A|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4955A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5055						nucleus		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547000													6	180					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	uc021trm.1	+	31	7003	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C	MYO15A_uc021trl.1_Missense_Mutation_p.R2260C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2262	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.R2262C(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602000													4	3					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117700566	117700566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:117700566G>T	uc004eqp.2	+	8	964	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DOCK11_uc004eqq.2_Nonsense_Mutation_p.E67*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	301					blood coagulation	cytosol	GTP binding	p.E301*(2)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGAAAAGCCGAGAACATCAT	0.398000													3	40					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903247	2903247	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:2903247G>A	uc002cry.1	-	5	867	c.801C>T	c.(799-801)gcC>gcT	p.A267A		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A267A(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TGTTGCGCTCGGCACAGCCCT	0.716000													4	30					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305076	86305076	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:86305076C>A	uc002sqs.3	-	10	1665	c.1286G>T	c.(1285-1287)cGa>cTa	p.R429L		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	429					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATGTGTTTTCGGAACAGGCC	0.423000													4	198					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	uc001kmw.2	-	34	4126	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1292	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.V1292M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627000													10	159					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	3					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171299983	171299983	+	Silent	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	uc003mbm.1	-	8	1541	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXW11_uc011dey.1_Silent_p.T358T|FBXW11_uc003mbl.1_Silent_p.T377T|FBXW11_uc003mbn.1_Silent_p.T356T	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	390					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity	p.T390T(2)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418000													3	73					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	uc021uyi.1	+	2	347	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_uc002pts.1_Missense_Mutation_p.D102E|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	102	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D102E(3)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577000													27	33					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	uc001fst.1	-	27	4167	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1323					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423000													4	181					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	uc001owu.3	-	2	1356	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_uc001owv.3_Missense_Mutation_p.N431H	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	431						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.N431H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488000													5	257					0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105882676	105882676	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:105882676T>C	uc001kxv.3	+	0	730	c.153T>C	c.(151-153)taT>taC	p.Y51Y	SFR1_uc001kxs.3_Intron|SFR1_uc001kxt.3_Intron|SFR1_uc001kxu.3_Intron	NM_145247	NP_660290	Q86XK3	SFR1_HUMAN	Homo sapiens SWI5-dependent recombination repair 1 (SFR1), transcript variant 2, mRNA.	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AAGTCGACTATAGAGAGGTGT	0.318000													14	49					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824423	109824423	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:109824423G>A	uc001dxj.3	-	3	483	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.R113W|PSRC1_uc001dxd.3_Missense_Mutation_p.R113W|PSRC1_uc001dxf.3_Missense_Mutation_p.R113W	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	113	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.R113W(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GTCTCCCGCCGAGGACTGGGC	0.672000													38	41					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	uc001asd.3	-	42	6051	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_uc001asc.3_Missense_Mutation_p.T182R	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1977	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.T1977R(4)|p.T1977K(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGAAGCCACTGTCAGTGGGTA	0.478000													10	112					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	uc002fos.4	+	10	1895	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	ZNF276_uc010ciq.3_Missense_Mutation_p.P386S|ZNF276_uc002foq.4_Missense_Mutation_p.P525S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.P386S|ZNF276_uc010cis.3_Missense_Mutation_p.P359S|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.P438S|ZNF276_uc010cit.2_3'UTR|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647000													3	8					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:13410024G>A	uc002mwy.3	-	18	2659	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_uc010dzc.2_Missense_Mutation_p.T334M|CACNA1A_uc010xnd.2_Missense_Mutation_p.T811M|CACNA1A_uc021ups.1_Missense_Mutation_p.T808M|CACNA1A_uc010xne.2_Missense_Mutation_p.T811M|CACNA1A_uc010dze.2_Missense_Mutation_p.T808M|CACNA1A_uc021upt.1_Missense_Mutation_p.T809M	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T809M(3)|p.T808M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGTGCCGCGTGTAGGCAGC	0.642000													3	48					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	uc003vtt.3	-	31	2961	c.2960T>A	c.(2959-2961)tTg>tAg	p.L987*	DGKI_uc003vtu.3_Nonsense_Mutation_p.L656*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	987					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.L987*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333000													7	165					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053832	32053832	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:32053832G>A	uc003nzl.2	-	6	3045	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1035	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T1035M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCTTGCGTCGTCGAGGG	0.662000													4	5					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108307709	108307709	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:108307709G>A	uc001dvk.1	-	8	964	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	VAV3_uc010ouw.1_Silent_p.L304L|VAV3_uc001dvl.1_Silent_p.L128L|VAV3_uc010oux.1_Silent_p.L304L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	304	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.L304L(3)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCTAATTTCAGTTTGACATCT	0.353000													40	59					0	0	1	0	0
C22orf40	150383	broad.mit.edu	37	22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:46643050C>T	uc003bhe.3	-	2	223	c.182G>A	c.(181-183)gGc>gAc	p.G61D	C22orf40_uc003bhf.3_Non-coding_Transcript	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA.	61								p.G61D(2)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GCAGCACGAGCCGAGGACCAG	0.597000													3	24					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	uc002osf.3	-	1	218	c.134G>T	c.(133-135)tGg>tTg	p.W45L		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA.	45	Required for interaction with prenylated RAB3A and VAMP2 (By similarity).					Golgi apparatus|cell junction|integral to membrane|synaptic vesicle	identical protein binding	p.W45L(2)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692000													2	3					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	uc002hve.3	-	5	1077	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(2)|p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562000													7	349					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13190228	13190228	+	Missense_Mutation	SNP	G	G	A	rs147686842	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr9:13190228G>A	uc010mia.1	-	14	2096	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	MPDZ_uc010mhz.3_Missense_Mutation_p.A680V|MPDZ_uc011lmn.2_Missense_Mutation_p.A680V|MPDZ_uc010mhy.3_Missense_Mutation_p.A680V|MPDZ_uc003zlb.4_Missense_Mutation_p.A680V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	680					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.A680V(3)		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)		ACTCTGACCCGCATCAGTCAT	0.502000													3	55					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	uc001hyl.1	+	98	14355	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_uc010pyb.1_Missense_Mutation_p.D178E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4745					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393000													27	77					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15976858	15976858	+	Silent	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	uc002gpo.3	-	27	3965	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_uc002gpn.3_Silent_p.T1248T|NCOR1_uc002gpp.1_Silent_p.T1139T|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Silent_p.T140T|NCOR1_uc010vwc.2_Silent_p.T43T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1232	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.T1232T(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393000													10	131					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895231	90895231	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:90895231C>T	uc003ula.3	+	0	1449	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	346					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.R346W(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGGACATGCGGCGCTTCAG	0.637000													5	179					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:33312723delT	uc003tdn.1	+	7	1315	c.802delT	c.(802-804)tttfs	p.F268fs	BBS9_uc003tdo.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdp.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdq.1_Frame_Shift_Del_p.F268fs|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Frame_Shift_Del_p.F268fs|BBS9_uc011kao.1_Frame_Shift_Del_p.F146fs	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	268					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				8	458	---	---	---	---					
