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
ZNF266	10781	broad.mit.edu	37	19	9524550	9524550	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9524550G>A	ENST00000592904.1	-	5	3127	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	ZNF266_ENST00000588933.1_Missense_Mutation_p.P351S|ZNF266_ENST00000361151.1_Missense_Mutation_p.P351S|ZNF266_ENST00000588221.1_Missense_Mutation_p.P351S|ZNF266_ENST00000592292.1_Missense_Mutation_p.P351S|ZNF266_ENST00000361451.2_Missense_Mutation_p.P351S|ZNF266_ENST00000590306.1_Missense_Mutation_p.P351S			Q14584	ZN266_HUMAN	zinc finger protein 266	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CATTTATAGGGTTTTATTCCA	0.413000													59	32					0	0	0.003610	0	0
ELOVL4	6785	broad.mit.edu	37	6	80635910	80635910	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:80635910C>T	ENST00000369816.4	-	2	589		c.e2+1			NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4						fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAAAAACATACCTCTCTGAAG	0.318000													6	12					0	0	0.001168	0	0
MYH11	4629	broad.mit.edu	37	16	15831463	15831463	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:15831463C>T	ENST00000338282.6	-	25	3242	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	MYH11_ENST00000452625.2_Missense_Mutation_p.E1053K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1053K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1046K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1046K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1046					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCTTCTCTTCCTTCTTTAGC	0.587000			T	CBFB	AML								18	34					0	0	0.006122	0	0
LPCAT2	54947	broad.mit.edu	37	16	55616943	55616943	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:55616943C>T	ENST00000262134.5	+	14	1752	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	523					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ACAACCCCCTCCACCGCCAGT	0.418000													18	35					0	0	0.004990	0	0
UTP20	27340	broad.mit.edu	37	12	101767224	101767224	+	Silent	SNP	C	C	T	rs112278934	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:101767224C>T	ENST00000261637.4	+	53	7098	c.6924C>T	c.(6922-6924)gcC>gcT	p.A2308A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2308					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATGATCGCCTATCTCTTTG	0.463000													25	30					0	0	0.001512	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	76					0	0	0.001168	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518267	113518267	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:113518267G>A	ENST00000284601.3	-	4	2948	c.2880C>T	c.(2878-2880)atC>atT	p.I960I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	960					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAATACCCTGGATTTCTCTTG	0.388000													64	29					0	0	0.003610	0	0
ARF5	381	broad.mit.edu	37	7	127229612	127229612	+	Silent	SNP	T	T	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:127229612T>A	ENST00000000233.5	+	3	376	c.222T>A	c.(220-222)atT>atA	p.I74I	GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	74					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						AGGACAAGATTCGGCCTCTGT	0.488000													14	73					0	0	0.004990	0	0
SETD1A	9739	broad.mit.edu	37	16	30976574	30976574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:30976574C>T	ENST00000262519.8	+	7	2197	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	504	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAAGTTTTCCTTCTTGGCC	0.602000													28	45					0	0	0.001786	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:2813184G>A	ENST00000602557.1	-	65	10479	c.9924C>T	c.(9922-9924)ttC>ttT	p.F3308F	CSMD1_ENST00000542608.1_Silent_p.F3130F|CSMD1_ENST00000537824.1_Silent_p.F3307F|CSMD1_ENST00000520002.1_Silent_p.F3308F|CSMD1_ENST00000602723.1_Silent_p.F3131F|CSMD1_ENST00000400186.3_Silent_p.F3131F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3308	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCTGCGAGGAAAAAGCCTG	0.507000													37	42					0	0	0.004289	0	0
GLRA1	2741	broad.mit.edu	37	5	151239414	151239414	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:151239414G>A	ENST00000274576.4	-	4	700	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.F136F|GLRA1_ENST00000545569.1_Silent_p.F53F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	136					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCTCATGGAAGTGGGCCC	0.522000													48	38					0	0	0.003610	0	0
LIX1	167410	broad.mit.edu	37	5	96460206	96460206	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:96460206C>T	ENST00000274382.4	-	2	505	c.210G>A	c.(208-210)gtG>gtA	p.V70V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	70										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTGGGAGGGTCACGTAACTCA	0.473000													37	47					0	0	0.004878	0	0
MUC17	140453	broad.mit.edu	37	7	100686664	100686664	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:100686664G>A	ENST00000306151.4	+	3	12031	c.11967G>A	c.(11965-11967)aaG>aaA	p.K3989K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3989						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.K3989N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTACTAAGGAATTTACAA	0.478000													27	110					0	0	0.002445	0	0
GPER1	2852	broad.mit.edu	37	7	1131809	1131809	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:1131809A>T	ENST00000397092.1	+	3	1329	c.445A>T	c.(445-447)Acc>Tcc	p.T149S	GPER_ENST00000401670.1_Missense_Mutation_p.T149S|GPER_ENST00000297469.3_Missense_Mutation_p.T149S|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.T149S	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		149						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTTCTTCCTCACCTGGATGAG	0.612000													16	50					0	0	0.006122	0	0
AGBL1	123624	broad.mit.edu	37	15	87531290	87531290	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:87531290C>T	ENST00000441037.2	+	23	3251	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Silent_p.F1052F|AGBL1_ENST00000389298.3_Silent_p.F783F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1052					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						caaactttttcaagatgaacc	0.403000													72	141					0	0	0.003610	0	0
MCF2	4168	broad.mit.edu	37	X	138708441	138708441	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:138708441C>T	ENST00000520602.1	-	9	1063	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	MCF2_ENST00000519895.1_Missense_Mutation_p.E260K|MCF2_ENST00000370576.4_Missense_Mutation_p.E200K|MCF2_ENST00000370573.4_Missense_Mutation_p.E200K|MCF2_ENST00000536274.1_Missense_Mutation_p.E161K|MCF2_ENST00000370578.4_Missense_Mutation_p.E345K|MCF2_ENST00000414978.1_Missense_Mutation_p.E260K|MCF2_ENST00000338585.6_Missense_Mutation_p.E200K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	200					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTGTTTCCATATCATGT	0.343000													33	7					0	0	0.004289	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696575	69696575	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:69696575G>A	ENST00000265403.7	+	6	1592	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G438E	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	522					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCTAGAAAAGGAAAGAAGGGA	0.383000													45	28					0	0	0.003214	0	0
C10orf137	26098	broad.mit.edu	37	10	127414358	127414358	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:127414358C>T	ENST00000337623.3	+	6	848	c.743C>T	c.(742-744)cCc>cTc	p.P248L	C10orf137_ENST00000356792.4_Missense_Mutation_p.P248L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGCCTGCTCCCTTCGAAATG	0.478000													47	5					0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37524229	37524229	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:37524229G>A	ENST00000299824.1	+	4	532	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E115K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	115					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAACTTTGAGGAAATTGTGAA	0.602000													19	30					0	0	0.001216	0	0
MED17	9440	broad.mit.edu	37	11	93528151	93528151	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:93528151C>T	ENST00000251871.3	+	6	1224	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	313					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGCTCTCTCGGGAAGCTGT	0.403000													66	55					0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24300064	24300064	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:24300064G>A	ENST00000175238.6	+	2	214	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ADAM7_ENST00000441335.2_Missense_Mutation_p.G44E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G44E|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	44					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CGAGATACTGGACACACCCAT	0.413000													31	122					0	0	0.001786	0	0
USP24	23358	broad.mit.edu	37	1	55586392	55586392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:55586392C>T	ENST00000294383.6	-	38	4384	c.4385G>A	c.(4384-4386)aGt>aAt	p.S1462N	USP24_ENST00000407756.1_Missense_Mutation_p.S1302N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1462					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTCTGTCTGACTAAGAGTGTA	0.468000													4	0					0	0	0.000602	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714951	150714951	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:150714951G>A	ENST00000335244.4	-	6	812	c.683C>T	c.(682-684)tCc>tTc	p.S228F	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S228F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	228					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAGCATGGAGAAGATGGT	0.567000													22	36					0	0	0.001523	0	0
TRPC6	7225	broad.mit.edu	37	11	101375213	101375213	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:101375213C>T	ENST00000344327.3	-	2	911	c.487G>A	c.(487-489)Gat>Aat	p.D163N	TRPC6_ENST00000348423.4_Missense_Mutation_p.D163N|TRPC6_ENST00000532133.1_Missense_Mutation_p.D163N|TRPC6_ENST00000360497.4_Missense_Mutation_p.D163N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	163					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCAAAGCATCCCCAACTCGA	0.463000													26	33					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179444752	179444752	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179444752C>T	ENST00000589042.1	-	318	67486	c.67262G>A	c.(67261-67263)gGa>gAa	p.G22421E	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853E|TTN_ENST00000460472.2_Missense_Mutation_p.G13356E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13481E|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20780	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGATTTTCCCTCCTCCAA	0.443000													45	83					0	0	0.002852	0	0
FCRL4	83417	broad.mit.edu	37	1	157548560	157548560	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:157548560C>T	ENST00000271532.1	-	9	1495	c.1360_splice	c.e9+1	p.V454_splice	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	454						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAATCCTCACCATCAACATAC	0.562000													26	18					0	0	0.005443	0	0
NPAP1	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:24923342C>T	ENST00000329468.2	+	1	2802	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.A776A(1)									AATTTGGGGCCCCTGATGGGC	0.552000													67	104					0	0	0.003610	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521677	6521677	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:6521677G>A	ENST00000377782.3	-	10	1165	c.1098C>T	c.(1096-1098)cgC>cgT	p.R366R	TNFRSF25_ENST00000351959.5_Silent_p.R320R|TNFRSF25_ENST00000351748.3_Silent_p.R174R|TNFRSF25_ENST00000356876.3_Silent_p.R357R|TNFRSF25_ENST00000348333.3_Silent_p.R312R	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	357	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCTGCCTCGCGCAGCCCCA	0.701000													5	25					0	0	0.001984	0	0
MYRF	745	broad.mit.edu	37	11	61539203	61539203	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:61539203G>A	ENST00000278836.5	+	6	1068	c.972G>A	c.(970-972)ccG>ccA	p.P324P	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.P315P	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CTTGGCACCCGCCAGGTGCCC	0.697000													22	112					0	0	0.003330	0	0
ANO5	203859	broad.mit.edu	37	11	22294508	22294508	+	Silent	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:22294508A>T	ENST00000324559.8	+	19	2525	c.2208A>T	c.(2206-2208)ggA>ggT	p.G736G	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	736						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						TTCTTTATGGAATGGCTGTCC	0.433000													55	50					0	0	0.003610	0	0
FSHR	2492	broad.mit.edu	37	2	49190802	49190802	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:49190802G>A	ENST00000406846.2	-	10	1277	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	FSHR_ENST00000346173.3_Silent_p.I324I|FSHR_ENST00000541117.1_Silent_p.I122I|FSHR_ENST00000304421.4_Silent_p.I360I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	386					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGTAGTTAGGATCACTAGCA	0.463000									Gonadal Dysgenesis, 46 XX				28	33					0	0	0.001061	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015416	21015416	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:21015416G>A	ENST00000381545.3	+	7	771	c.552G>A	c.(550-552)ggG>ggA	p.G184G	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.G184G|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.G184G|LST3_ENST00000540229.1_Silent_p.G184G	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	184					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTGGCATAGGGGAAACCCCCA	0.373000													21	61					0	0	0.002780	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140983	143140983	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:143140983C>T	ENST00000332690.1	+	1	438	c.438C>T	c.(436-438)ttC>ttT	p.F146F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	146					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGATGCTCTTCAGCTCTGTAG	0.453000													33	148					0	0	0.002096	0	0
ANK2	287	broad.mit.edu	37	4	114294463	114294463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:114294463G>A	ENST00000357077.4	+	45	11770	c.11717G>A	c.(11716-11718)cGg>cAg	p.R3906Q	ANK2_ENST00000509550.1_Missense_Mutation_p.R997Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1812Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1821Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R504Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3873Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3873					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3906Q(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCATTAGGCGGTATGTATCC	0.388000													10	49					0	0	0.000673	0	0
ATP7B	540	broad.mit.edu	37	13	52548946	52548946	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:52548946G>A	ENST00000242839.4	-	2	566	c.410C>T	c.(409-411)tCc>tTc	p.S137F	ATP7B_ENST00000542656.1_Missense_Mutation_p.S105F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S137F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S137F|ATP7B_ENST00000400370.3_Missense_Mutation_p.S137F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S137F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S137F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	137					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGCAGGCAAGGACCTTGAGGG	0.592000									Wilson disease				40	15					0	0	0.001485	0	0
EZH2	2146	broad.mit.edu	37	7	148514973	148514973	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:148514973G>A	ENST00000320356.2	-	10	1357	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	EZH2_ENST00000350995.2_Silent_p.S368S|EZH2_ENST00000541220.1_Silent_p.S398S|EZH2_ENST00000460911.1_Silent_p.S407S|EZH2_ENST00000483967.1_Silent_p.S398S|EZH2_ENST00000478654.1_Silent_p.S398S|EZH2_ENST00000476773.1_Silent_p.S398S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	407					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTTACCAGAGGAGCTCGAAG	0.393000			Mis		DLBCL								14	70					0	0	0.000958	0	0
CRB1	23418	broad.mit.edu	37	1	197313433	197313433	+	Silent	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:197313433T>C	ENST00000367400.3	+	3	810	c.675T>C	c.(673-675)atT>atC	p.I225I	CRB1_ENST00000538660.1_Silent_p.I225I|CRB1_ENST00000535699.1_Silent_p.I156I|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	225	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATTGGAAATTGACGAATGTT	0.408000													41	131					0	0	0.003610	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637799	23637799	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:23637799T>A	ENST00000478691.1	-	9	1161	c.890A>T	c.(889-891)aAt>aTt	p.N297I	HNRNPR_ENST00000427764.2_Missense_Mutation_p.N357I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N256I|HNRNPR_ENST00000302271.6_Missense_Mutation_p.N395I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N235I|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N395I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N398I	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	395	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCTTTGCCATTCATTTCATC	0.338000													14	12					0	0	0.001855	0	0
SWAP70	23075	broad.mit.edu	37	11	9771499	9771499	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:9771499G>A	ENST00000318950.6	+	12	1843	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	SWAP70_ENST00000447399.2_Silent_p.E522E	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	580						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACTGGAAAGAGAAAAAGACCA	0.463000													45	38					0	0	0.002852	0	0
C5orf46	389336	broad.mit.edu	37	5	147286010	147286010	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:147286010G>A	ENST00000515291.1	-	1	91	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	C5orf46_ENST00000318315.4_Silent_p.L19L|C5orf46_ENST00000510432.1_5'UTR			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	19						extracellular region				NS(1)|lung(1)|prostate(1)	3						TAGCAGGTCAGGAATAAGACA	0.453000													10	17					0	0	0.001368	0	0
CHERP	10523	broad.mit.edu	37	19	16638908	16638908	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:16638908G>A	ENST00000546361.2	-	9	1439	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P441S	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	430	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGGCCCCAAGGAGCCACGGGG	0.662000													13	59					0	0	0.001368	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42158988	42158988	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:42158988A>G	ENST00000444063.1	+	7	983	c.851A>G	c.(850-852)aAt>aGt	p.N284S	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.N352S|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.N284S|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.N352S|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.N284S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	284					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCTGGGTCAATGCCAACTCC	0.557000													66	81					0	0	0.003610	0	0
EYA1	2138	broad.mit.edu	37	8	72229851	72229851	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:72229851G>A	ENST00000340726.3	-	7	1131	c.492C>T	c.(490-492)ctC>ctT	p.L164L	EYA1_ENST00000388742.4_Silent_p.L164L|EYA1_ENST00000388741.2_Silent_p.L130L|EYA1_ENST00000303824.7_Silent_p.L158L|EYA1_ENST00000419131.1_Silent_p.L159L|EYA1_ENST00000388740.3_Silent_p.L131L|EYA1_ENST00000388743.2_Silent_p.L163L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	164					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCATAGCTGAGAAATCCTG	0.463000													62	112					0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167055770	167055770	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:167055770C>T	ENST00000375387.4	-	27	5722	c.5382G>A	c.(5380-5382)gcG>gcA	p.A1794A	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.A1782A|SCN9A_ENST00000303354.6_Silent_p.A1794A|SCN9A_ENST00000409435.1_Silent_p.A1793A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1793						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAACTGGGTCGCATCGGGAT	0.448000													45	59					0	0	0.003214	0	0
DAPK2	23604	broad.mit.edu	37	15	64332401	64332401	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:64332401C>T	ENST00000261891.3	-	1	65	c.60G>A	c.(58-60)gaG>gaA	p.E20E	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Silent_p.E20E|DAPK2_ENST00000558069.1_Silent_p.E20E			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	20					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CATAAAAGTCCTCCACCTTCT	0.527000													31	63					0	0	0.002836	0	0
DSCAM	1826	broad.mit.edu	37	21	41725626	41725626	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41725626G>A	ENST00000400454.1	-	5	1177	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	234	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGGCTTTGCGATGGTCAAAC	0.537000													21	17					0	0	0.002299	0	0
MGAM	8972	broad.mit.edu	37	7	141754553	141754553	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:141754553G>A	ENST00000475668.2	+	27	3213		c.e27-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTGGCCTAGATTTATGATC	0.428000													118	59					0	0	0.003610	0	0
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:27729502C>A	ENST00000354914.3	-	9	1922	c.1437G>T	c.(1435-1437)gtG>gtT	p.V479V	SCARA5_ENST00000380385.2_Silent_p.V254V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577000													27	39					2.12542e-12	4.84595e-12	0.001061	1	0
CAPSL	133690	broad.mit.edu	37	5	35921135	35921135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:35921135G>A	ENST00000397367.2	-	2	214	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CAPSL_ENST00000397366.1_Nonsense_Mutation_p.R30*|CAPSL_ENST00000514524.1_Nonsense_Mutation_p.R30*	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CACTGCAGTCGGAGTCTTTCA	0.607000													22	36					0	0	0.001523	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612508	96612508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:96612508G>A	ENST00000371321.3	+	9	1392	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	437					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTTGTGTGGGAGAGGGCCTG	0.433000													53	19					0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88376883	88376883	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:88376883G>A	ENST00000298699.2	-	12	1396	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	C12orf50_ENST00000550553.1_Missense_Mutation_p.P367S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	406										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAGTTACCTGGATATATCTTT	0.289000													46	24					0	0	0.003214	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713473	138713473	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:138713473C>T	ENST00000389532.4	-	11	3098	c.3034G>A	c.(3034-3036)Ggg>Agg	p.G1012R	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1023R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G734R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1012						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ACAACCTCCCCAACAGTGTCC	0.522000													24	9					0	0	0.003954	0	0
GPAM	57678	broad.mit.edu	37	10	113926232	113926232	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:113926232T>G	ENST00000348367.4	-	12	1346	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	GPAM_ENST00000423155.1_Missense_Mutation_p.R383S|GPAM_ENST00000369425.1_Missense_Mutation_p.R383S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	383					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TAATAACACCTCTTGCTACAC	0.383000													56	9					0	0	0.003610	0	0
BCMO1	53630	broad.mit.edu	37	16	81314522	81314522	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:81314522G>A	ENST00000258168.2	+	8	1623	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E319K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	388					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GGCCCTGAAGGAAGAAGATGG	0.413000													11	9					0	0	0.000978	0	0
LLGL1	3996	broad.mit.edu	37	17	18139963	18139963	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:18139963G>A	ENST00000316843.4	+	12	1491	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	465					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTCGGGTGTGGCGCTGCGGC	0.667000													51	28					0	0	0.003610	0	0
EXD2	55218	broad.mit.edu	37	14	69704552	69704552	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:69704552A>T	ENST00000409014.1	+	10	1835	c.1178A>T	c.(1177-1179)cAg>cTg	p.Q393L	EXD2_ENST00000409949.1_Missense_Mutation_p.Q393L|EXD2_ENST00000409675.1_Missense_Mutation_p.Q393L|EXD2_ENST00000409018.3_Missense_Mutation_p.Q518L|EXD2_ENST00000312994.5_Missense_Mutation_p.Q518L|EXD2_ENST00000409242.1_Missense_Mutation_p.Q393L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.Q393L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	393			Q -> H (in dbSNP:rs8007859).		nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGCCTACTCAGCGAAAGGAG	0.607000													25	12					0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34209041	34209041	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:34209041G>A	ENST00000373381.4	-	14	2189	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	631	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGACCAGGAAATCAAACT	0.617000													22	72					0	0	0.002780	0	0
USP21	27005	broad.mit.edu	37	1	161134339	161134339	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:161134339C>T	ENST00000368002.3	+	11	1698	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Missense_Mutation_p.R441W|USP21_ENST00000289865.8_Missense_Mutation_p.R441W	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	441					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGACCGATGTCGGCAGAAAAC	0.408000													26	13					0	0	0.001061	0	0
DSCAM	1826	broad.mit.edu	37	21	41447075	41447075	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41447075G>A	ENST00000400454.1	-	27	5254	c.4777C>T	c.(4777-4779)Ctc>Ttc	p.L1593F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1593					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCATCTTGAGCCCCTCGTTG	0.542000													27	22					0	0	0.001061	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593792	45593792	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:45593792G>A	ENST00000336156.4	-	9	1118	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Silent_p.S333S|KIAA0930_ENST00000251993.7_Silent_p.S356S|KIAA0930_ENST00000391627.2_Silent_p.S317S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCCCGACAGGGACCGAGACC	0.607000													23	82					0	0	0.002299	0	0
OR51A7	119687	broad.mit.edu	37	11	4928635	4928635	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4928635C>T	ENST00000359350.4	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGCTTTTCCTTCTGATTG	0.458000													20	40					0	0	0.001882	0	0
DLST	1743	broad.mit.edu	37	14	75365133	75365133	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:75365133C>T	ENST00000334220.4	+	11	893	c.832C>T	c.(832-834)Cta>Tta	p.L278L	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Silent_p.L192L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	278					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TAACCTCAAACTAGGCTTCAT	0.458000													14	48					0	0	0.001855	0	0
COL3A1	1281	broad.mit.edu	37	2	189850417	189850417	+	Silent	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:189850417T>C	ENST00000304636.3	+	4	530	c.360T>C	c.(358-360)aaT>aaC	p.N120N	COL3A1_ENST00000317840.5_Silent_p.N120N	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	120					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			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)	CTGGGAGAAATGGTGACCCTG	0.438000													22	27					0	0	0.001523	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	rs145758676		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:47583502C>T	ENST00000334194.3	+	12	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	472						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468000													37	10					0	0	0.003755	0	0
CSMD2	114784	broad.mit.edu	37	1	34046481	34046481	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:34046481G>A	ENST00000373381.4	-	48	7435	c.7259C>T	c.(7258-7260)cCt>cTt	p.P2420L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2422	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCAGCAGAGGACTCTGTCC	0.557000													22	11					0	0	0.003330	0	0
LDB2	9079	broad.mit.edu	37	4	16760851	16760851	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:16760851G>A	ENST00000502640.1	-	2	313	c.165C>T	c.(163-165)gcC>gcT	p.A55A	LDB2_ENST00000515064.1_Silent_p.A55A|LDB2_ENST00000304523.5_Silent_p.A55A|LDB2_ENST00000441778.2_Silent_p.A55A			O43679	LDB2_HUMAN	LIM domain binding 2	55							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATTCAGTGGCAAAGGCGT	0.373000													22	26					0	0	0.002780	0	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:55143640C>T	ENST00000396331.1	+	6	970	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LILRB1_ENST00000434867.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)			110	41					0	0	0.003610	0	0
ACVR1B	91	broad.mit.edu	37	12	52370345	52370345	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:52370345C>T	ENST00000257963.4	+	3	643	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ACVR1B_ENST00000541224.1_Missense_Mutation_p.S189L|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S189L|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S189L|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S137L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	189	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTCTCCACCTCAGGGTCTGGC	0.512000													53	49					0	0	0.003610	0	0
CCNE2	9134	broad.mit.edu	37	8	95906295	95906295	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:95906295G>T	ENST00000520509.1	-	3	319	c.67C>A	c.(67-69)Caa>Aaa	p.Q23K	CCNE2_ENST00000308108.4_Missense_Mutation_p.Q23K|CCNE2_ENST00000396133.3_Missense_Mutation_p.Q23K			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGGGCTTCTTGGGGGGATTCC	0.458000													10	1036					0.00448238	0.00994631	0.004482	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955425	18955425	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:18955425C>T	ENST00000302797.3	-	1	1131	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	303					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCACCTTCATCCACCTCA	0.552000													31	55					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9047181	9047181	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9047181C>T	ENST00000397910.4	-	5	34653	c.34450G>A	c.(34450-34452)Gaa>Aaa	p.E11484K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11486	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGGTTCATATGGGGTC	0.507000													92	44					0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	7080389	7080389	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:7080389C>T	ENST00000389658.3	-	2	222	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	43	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGCCCCTTCTCGCCACAGG	0.547000													8	45					0	0	0.003080	0	0
ATAD2	29028	broad.mit.edu	37	8	124359340	124359340	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:124359340A>T	ENST00000287394.5	-	16	2311	c.2204T>A	c.(2203-2205)tTa>tAa	p.L735*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.L53*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGAGTCTAATGTTTTATT	0.318000													17	50					0	0	0.004990	0	0
MROH8	140699	broad.mit.edu	37	20	35769577	35769577	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:35769577G>A	ENST00000400441.3	-	12	1475	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	MROH8_ENST00000217333.8_Intron|MROH8_ENST00000441008.2_Silent_p.S478S					maestro heat-like repeat family member 8																		TCTCAAATTGGGACTCTGTAT	0.418000													17	26					0	0	0.004990	0	0
FCRL4	83417	broad.mit.edu	37	1	157548559	157548559	+	Splice_Site	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:157548559C>A	ENST00000271532.1	-	9	1496		c.e9+1		FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4							integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAATCCTCACCATCAACATA	0.562000													25	18					9.22233e-05	0.000205642	0.004656	1	0
RXFP1	59350	broad.mit.edu	37	4	159533492	159533492	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:159533492G>A	ENST00000307765.5	+	8	909	c.658G>A	c.(658-660)Gga>Aga	p.G220R	RXFP1_ENST00000470033.1_Missense_Mutation_p.G187R|RXFP1_ENST00000343542.5_Missense_Mutation_p.G220R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G139R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G139R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AACATTTTATGGACTAAATTC	0.274000													4	22					0	0	0.000602	0	0
LGSN	51557	broad.mit.edu	37	6	63990205	63990205	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:63990205G>C	ENST00000370657.4	-	4	1284	c.1251C>G	c.(1249-1251)taC>taG	p.Y417*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	417					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CCAGCACCAAGTAAGGGTTTG	0.458000													17	51					0	0	0.004990	0	0
MTUS2	23281	broad.mit.edu	37	13	29599560	29599560	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:29599560G>A	ENST00000431530.3	+	1	813	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	242						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTGTGCGTCATCCTAAA	0.562000													15	10					0	0	0.003163	0	0
CISH	1154	broad.mit.edu	37	3	50645938	50645938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:50645938G>A	ENST00000443053.2	-	3	385	c.158C>T	c.(157-159)cCc>cTc	p.P53L	CISH_ENST00000348721.3_Missense_Mutation_p.P36L	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	36					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCAGGCAAGGGCTGCATGAC	0.657000													26	5					0	0	0.004656	0	0
SLFN11	91607	broad.mit.edu	37	17	33680383	33680383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:33680383C>T	ENST00000394566.1	-	6	2166	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E632K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	632						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGGTTTTCACAAACGTAG	0.428000													10	44					0	0	0.004007	0	0
ALMS1	7840	broad.mit.edu	37	2	73717740	73717740	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:73717740G>C	ENST00000264448.6	+	10	8762	c.8651G>C	c.(8650-8652)cGa>cCa	p.R2884P	ALMS1_ENST00000409009.1_Missense_Mutation_p.R2842P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2884					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTGAACAACGAGAGCTCTTT	0.438000													41	69					0	0	0.002522	0	0
GRID2	2895	broad.mit.edu	37	4	94128596	94128596	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:94128596C>T	ENST00000282020.4	+	5	1035	c.777C>T	c.(775-777)atC>atT	p.I259I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I164I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	259					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCACTGGATCATTATAAATG	0.328000													12	70					0	0	0.001368	0	0
SACS	26278	broad.mit.edu	37	13	23910492	23910492	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:23910492C>T	ENST00000382298.3	-	10	8111	c.7523G>A	c.(7522-7524)aGa>aAa	p.R2508K	SACS_ENST00000402364.1_Missense_Mutation_p.R1758K|SACS_ENST00000382292.3_Missense_Mutation_p.R2508K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2508					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATGCATATCTTTCTAAGGC	0.393000													18	81					0	0	0.001523	0	0
TMC1	117531	broad.mit.edu	37	9	75435973	75435973	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:75435973C>T	ENST00000297784.5	+	20	2519	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	TMC1_ENST00000396237.3_Missense_Mutation_p.P660L|TMC1_ENST00000340019.3_Missense_Mutation_p.P660L|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	660					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCCTCCCACCATCTTTTGAT	0.458000													129	30					0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420514	55420514	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55420514G>A	ENST00000242994.3	+	2	669	c.291G>A	c.(289-291)cgG>cgA	p.R97R		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	97					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCAGAGAACGGACCCGGATGC	0.498000													11	55					0	0	0.000673	0	0
TMC5	79838	broad.mit.edu	37	16	19474688	19474688	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:19474688G>A	ENST00000396229.2	+	7	1984	c.1236_splice	c.e7+1	p.R412_splice	TMC5_ENST00000561503.1_Splice_Site_p.R53_splice|TMC5_ENST00000542583.2_Splice_Site_p.R412_splice|TMC5_ENST00000564959.1_Splice_Site_p.R95_splice|TMC5_ENST00000541464.1_Splice_Site_p.R412_splice|TMC5_ENST00000381414.4_Splice_Site_p.R412_splice|TMC5_ENST00000219821.5_Splice_Site_p.R166_splice	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	412						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCATTTCCCGGGTAAGTCAG	0.463000													44	42					0	0	0.002852	0	0
RYR1	6261	broad.mit.edu	37	19	39013913	39013913	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:39013913C>T	ENST00000355481.4	+	69	10535	c.10404C>T	c.(10402-10404)tcC>tcT	p.S3468S	RYR1_ENST00000359596.3_Silent_p.S3468S|RYR1_ENST00000360985.3_Silent_p.S3468S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3468					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACAACATGTCCTTCCTGACTG	0.552000													114	29					0	0	0.003610	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127455	226127455	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:226127455C>T	ENST00000366820.5	-	2	846		c.e2+1		LEFTY2_ENST00000474493.1_Splice_Site|LEFTY2_ENST00000420304.2_Splice_Site	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2						cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGACCCCCACCTGGAGTCGA	0.781000													11	10					0	0	0.000673	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308309	7308309	+	Missense_Mutation	SNP	T	T	C	rs149408918	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:7308309T>C	ENST00000398462.2	-	3	478	c.328A>G	c.(328-330)Aat>Gat	p.N110D	SPAG11B_ENST00000458665.1_Missense_Mutation_p.N57D|SPAG11B_ENST00000297498.2_3'UTR|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	NM_058201.2	NP_478108.2	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CAACACCTATTCCAGGGATCA	0.438000													3	56					0	0	0.004672	0	0
HSPB2	3316	broad.mit.edu	37	11	111784566	111784566	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:111784566C>T	ENST00000304298.3	+	2	1084	c.496C>T	c.(496-498)Cct>Tct	p.P166S	HSPB2_ENST00000537382.1_Missense_Mutation_p.P166S|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_5'UTR	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	166					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTCCCTGCTCCCTGCGCCTCC	0.577000													19	30					0	0	0.001216	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218690	47218690	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:47218690C>A	ENST00000300404.2	+	2	335	c.276C>A	c.(274-276)ttC>ttA	p.F92L	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.F32L|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.F6L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	92					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAAGCATGTTCCTTCAAGCAG	0.502000													29	144					1.74807e-11	3.96577e-11	0.002096	1	0
ASPM	259266	broad.mit.edu	37	1	197093279	197093279	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:197093279C>T	ENST00000367409.4	-	13	3607	c.3351G>A	c.(3349-3351)atG>atA	p.M1117I	ASPM_ENST00000294732.7_Missense_Mutation_p.M1117I|ASPM_ENST00000367408.1_Missense_Mutation_p.M367I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1117	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACCCAATCCATCAATAACT	0.284000													7	54					0	0	0.003080	0	0
FLAD1	80308	broad.mit.edu	37	1	154960536	154960536	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:154960536C>T	ENST00000368431.3	+	3	851	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Missense_Mutation_p.H11Y|FLAD1_ENST00000315144.10_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCTCCCCTTCATCCCTACAG	0.577000													56	37					0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10079154	10079154	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:10079154C>T	ENST00000264828.3	-	59	4306	c.4221G>A	c.(4219-4221)ttG>ttA	p.L1407L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1407	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGAGACCGATCAATCCAATGT	0.582000													99	43					0	0	0.003610	0	0
WDTC1	23038	broad.mit.edu	37	1	27618877	27618877	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:27618877C>T	ENST00000319394.3	+	7	1186	c.651C>T	c.(649-651)atC>atT	p.I217I	WDTC1_ENST00000361771.3_Silent_p.I217I	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	217							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TCCGCATGATCCATAACCACA	0.567000													9	54					0	0	0.004482	0	0
THEMIS	387357	broad.mit.edu	37	6	128176299	128176299	+	Silent	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:128176299A>G	ENST00000543064.1	-	2	274	c.126T>C	c.(124-126)tgT>tgC	p.C42C	THEMIS_ENST00000537166.1_Silent_p.C7C|THEMIS_ENST00000368248.2_Silent_p.C42C|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	42	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTGTTGAAAAACAGCATTCAT	0.318000													14	5					0	0	0.002450	0	0
GPSM3	63940	broad.mit.edu	37	6	32159178	32159178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:32159178C>A	ENST00000375040.3	-	4	840	c.448G>T	c.(448-450)Gag>Tag	p.E150*	GPSM3_ENST00000375043.3_Nonsense_Mutation_p.E150*|GPSM3_ENST00000487761.1_Nonsense_Mutation_p.E147*	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	150	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GACCTTTGCTCCTCCATTCGA	0.647000													111	126					9.67539e-52	2.22827e-51	0.003610	1	0
TMEM132B	114795	broad.mit.edu	37	12	126068397	126068397	+	Splice_Site	SNP	G	G	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:126068397G>C	ENST00000299308.3	+	5	1287	c.1278_splice	c.e5-1	p.D427_splice		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	427						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCCTGTTTAGGACACCGAGGT	0.547000													9	208					0	0	0.000443	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241774	160241774	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:160241774A>G	ENST00000392783.2	-	23	4073	c.3578T>C	c.(3577-3579)cTt>cCt	p.L1193P	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1159P|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1157P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1093P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACTTTCAGTAAGCTCAGTTTG	0.443000													32	57					0	0	0.002096	0	0
CRHR1	1394	broad.mit.edu	37	17	43898779	43898779	+	Silent	SNP	C	C	T	rs113796058		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:43898779C>T	ENST00000314537.5	+	4	525	c.300C>T	c.(298-300)tcC>tcT	p.S100S	CRHR1_ENST00000577353.1_Silent_p.S100S|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Silent_p.S60S|CRHR1_ENST00000398285.3_Silent_p.S100S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	100					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGAATTACTCCGAGTGCCAGG	0.617000													14	96					0	0	0.004990	0	0
OR4M2	390538	broad.mit.edu	37	15	22368906	22368906	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:22368906G>A	ENST00000332663.2	+	1	429	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGGCTTCGGAGATGTTCTT	0.468000													61	358					0	0	0.003610	0	0
FAAH2	158584	broad.mit.edu	37	X	57405106	57405106	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:57405106G>A	ENST00000374900.4	+	6	885	c.765G>A	c.(763-765)caG>caA	p.Q255Q		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	255						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACAAAGGTCAGTTTCCCTTGG	0.493000										HNSCC(52;0.14)			41	7					0	0	0.002522	0	0
FAT1	2195	broad.mit.edu	37	4	187557862	187557862	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:187557862G>A	ENST00000441802.2	-	5	4058	c.3849C>T	c.(3847-3849)ccC>ccT	p.P1283P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1283	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCTGCATTGGGGCCCTCAT	0.507000										HNSCC(5;0.00058)			150	92					0	0	0.003610	0	0
FBXO48	554251	broad.mit.edu	37	2	68692015	68692015	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:68692015C>T	ENST00000377957.2	-	3	670	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	88										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TATTTCTCTTCGGCACACAGC	0.433000													17	94					0	0	0.001523	0	0
INTS1	26173	broad.mit.edu	37	7	1518129	1518129	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:1518129G>A	ENST00000389470.4	-	34	5099	c.5100C>T	c.(5098-5100)ctC>ctT	p.L1700L	INTS1_ENST00000404767.3_Silent_p.L1501L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1501					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGCGCAGGAGCCCCCCTC	0.687000													7	18					0	0	0.000443	0	0
UPP2	151531	broad.mit.edu	37	2	158977948	158977948	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:158977948C>T	ENST00000605860.1	+	8	699	c.653C>T	c.(652-654)aCg>aTg	p.T218M	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.T218M|UPP2_ENST00000005756.4_Missense_Mutation_p.T161M			O95045	UPP2_HUMAN	uridine phosphorylase 2	161					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTTGTAATAACGGATATAGCT	0.393000													74	134					0	0	0.003610	0	0
ZNF300	91975	broad.mit.edu	37	5	150275613	150275613	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:150275613C>T	ENST00000446148.2	-	7	1663	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	ZNF300_ENST00000418587.2_Silent_p.L360L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.L396L|ZNF300_ENST00000394226.2_Silent_p.L396L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTATAATCAGCTGTGACT	0.443000													27	30					0	0	0.001061	0	0
KMT2A	4297	broad.mit.edu	37	11	118363900	118363900	+	Silent	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118363900A>G	ENST00000534358.1	+	16	5156	c.5133A>G	c.(5131-5133)ctA>ctG	p.L1711L	KMT2A_ENST00000389506.5_Silent_p.L1708L|KMT2A_ENST00000354520.4_Silent_p.L1670L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTTTAGATCTAGAAGGAGTCA	0.468000													35	31					0	0	0.004878	0	0
RP1	6101	broad.mit.edu	37	8	55538614	55538614	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:55538614G>A	ENST00000220676.1	+	4	2320	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	724					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAAAGGAGGGATACTTTGTG	0.338000													17	27					0	0	0.004007	0	0
MYO3A	53904	broad.mit.edu	37	10	26385322	26385322	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:26385322T>A	ENST00000265944.5	+	16	1741	c.1575T>A	c.(1573-1575)aaT>aaA	p.N525K	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin head-like.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation).		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.N525K(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAAAAATTTTCATATTT	0.318000													15	21					0	0	0.004007	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052083	48052083	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:48052083C>T	ENST00000316364.5	+	2	527	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	SEMA6D_ENST00000355997.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L30F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L30F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	30	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGATGAACCCCTTAATACTGT	0.443000													25	51					0	0	0.001271	0	0
CDH15	1013	broad.mit.edu	37	16	89245928	89245928	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:89245928C>T	ENST00000289746.2	+	2	212	c.147C>T	c.(145-147)atC>atT	p.I49I	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	49					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.I52fs*38(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGGGTCATCCCCCCGATCA	0.682000													31	48					0	0	0.003755	0	0
KPNA6	23633	broad.mit.edu	37	1	32636331	32636331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:32636331C>T	ENST00000373625.3	+	14	1540	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	KPNA6_ENST00000537234.1_Nonsense_Mutation_p.Q480*|KPNA6_ENST00000545542.1_Nonsense_Mutation_p.Q488*	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	483					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGTTTCTCCAGAGCCACGA	0.468000													10	70					0	0	0.000673	0	0
BBS9	27241	broad.mit.edu	37	7	33392474	33392474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:33392474G>A	ENST00000242067.6	+	15	2062	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	BBS9_ENST00000396127.2_Missense_Mutation_p.R479Q|BBS9_ENST00000355070.2_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	514					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)			TGGACAGATCGAAATCCTGAT	0.323000									Bardet-Biedl syndrome				12	27					0	0	0.002450	0	0
COL12A1	1303	broad.mit.edu	37	6	75887636	75887636	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:75887636C>T	ENST00000322507.8	-	12	2489	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R727Q|COL12A1_ENST00000416123.2_Missense_Mutation_p.R727Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	727	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTTAGGTTTCGAGGTGCTCC	0.294000													38	32					0	0	0.001485	0	0
MYH1	4619	broad.mit.edu	37	17	10406157	10406157	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:10406157G>A	ENST00000226207.5	-	24	3103	c.3009C>T	c.(3007-3009)ctC>ctT	p.L1003L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1003						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGGCCTCCTGGAGAGCCTTCT	0.498000													29	154					0	0	0.002836	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753789	113753789	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:113753789C>T	ENST00000295878.3	-	6	947	c.801G>A	c.(799-801)gtG>gtA	p.V267V	KIAA1407_ENST00000545063.1_Silent_p.V98V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	267										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGCTGCTTTCACAGTGCGTC	0.448000													110	24					0	0	0.003610	0	0
PDCL	5082	broad.mit.edu	37	9	125582801	125582801	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:125582801G>T	ENST00000259467.4	-	4	634	c.469C>A	c.(469-471)Caa>Aaa	p.Q157K		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	157					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TGCTTGAATTGGGGCCCCTTG	0.438000													49	19					4.29476e-34	9.86605e-34	0.003610	1	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724534	50724534	+	Silent	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:50724534A>G	ENST00000515869.1	-	6	2151	c.2031T>C	c.(2029-2031)caT>caC	p.H677H	PGBD3_ENST00000508005.2_Silent_p.H209H|PGBD3_ENST00000603152.1_Silent_p.H677H|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.H677H|PGBD3_ENST00000374127.3_Silent_p.H209H	NM_001277059.1	NP_001263988.1																					CCAGTACATTATGCACATCTG	0.383000													54	7					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997100	62997100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:62997100G>A	ENST00000306494.6	-	1	24	c.25C>T	c.(25-27)Caa>Taa	p.Q9*	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	9					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTCCAACTTGATCTAGGAGG	0.438000													18	45					0	0	0.001216	0	0
YBX3	8531	broad.mit.edu	37	12	10862627	10862627	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:10862627C>T	ENST00000228251.4	-	6	860	c.660G>A	c.(658-660)cgG>cgA	p.R220R	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3			Y box binding protein 3																		GCAGCTGATTCCGGGCCCCAG	0.637000													9	25					0	0	0.000673	0	0
UNC79	57578	broad.mit.edu	37	14	94063707	94063707	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:94063707G>A	ENST00000553484.1	+	24	3347	c.3193G>A	c.(3193-3195)Gaa>Aaa	p.E1065K	UNC79_ENST00000393151.2_Missense_Mutation_p.E1065K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1065K|UNC79_ENST00000256339.4_Missense_Mutation_p.E888K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1065						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATTGCAGTGGAAAAAGTTGC	0.423000													6	51					0	0	0.001984	0	0
MOGS	7841	broad.mit.edu	37	2	74688900	74688900	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:74688900G>A	ENST00000233616.4	-	4	2178	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	MOGS_ENST00000452063.2_Silent_p.L566L|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	672					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCACCCGAACGAGCCCCTGAG	0.587000													37	61					0	0	0.001485	0	0
SSX3	10214	broad.mit.edu	37	X	48214129	48214129	+	Missense_Mutation	SNP	T	T	C	rs113403735		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:48214129T>C	ENST00000298396.2	-	3	174	c.122A>G	c.(121-123)aAa>aGa	p.K41R	SSX3_ENST00000376893.3_Missense_Mutation_p.K41R	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	41	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CTCCGAGACTTTCATCTTTTC	0.398000													57	9					0	0	0.003610	0	0
ACBD4	79777	broad.mit.edu	37	17	43216450	43216450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:43216450C>T	ENST00000398322.3	+	8	1170	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000591859.1_Silent_p.F250F|ACBD4_ENST00000431281.1_Silent_p.F250F|ACBD4_ENST00000376955.4_Silent_p.F234F|ACBD4_ENST00000321854.8_Nonsense_Mutation_p.R238*|ACBD4_ENST00000586346.1_Silent_p.F250F	NM_024722.2	NP_078998.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	235							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GGGGACAGTTCGAGCACTACA	0.682000													51	21					0	0	0.003610	0	0
DBF4	10926	broad.mit.edu	37	7	87516704	87516704	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:87516704C>T	ENST00000265728.1	+	5	1015	c.511C>T	c.(511-513)Cat>Tat	p.H171Y		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	171	BRCT 2.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAAAATTCTTCATATTGATGG	0.279000													18	8					0	0	0.002299	0	0
AOC4P	90586	broad.mit.edu	37	17	41020555	41020555	+	RNA	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:41020555C>T	ENST00000585538.1	+	0	1394					NR_002773.1																						AGTCCCAGGCCGCCAAGACAA	0.592000													5	15					0	0	0.000602	0	0
COL7A1	1294	broad.mit.edu	37	3	48622503	48622503	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:48622503C>T	ENST00000328333.8	-	32	4048	c.3941G>A	c.(3940-3942)gGg>gAg	p.G1314E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1314E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1314	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGGATTCCCGGCGCGGCC	0.682000													42	9					0	0	0.003610	0	0
OR56B4	196335	broad.mit.edu	37	11	6129257	6129257	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:6129257C>T	ENST00000316529.3	+	1	344	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCACCATCATGCCCAAGA	0.493000													33	36					0	0	0.002445	0	0
RBAK	57786	broad.mit.edu	37	7	5104616	5104616	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:5104616C>T	ENST00000396912.1	+	5	2048	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.P510L	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	510	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGAGAAACCCTATGAATGT	0.403000													10	32					0	0	0.000673	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826519	43826519	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:43826519C>A	ENST00000389420.3	-	20	2815	c.2816G>T	c.(2815-2817)gGa>gTa	p.G939V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G93V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G939V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	939	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding	p.G939L(1)|p.G939V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACAGTCTGTCCTTCATGAAT	0.423000													23	72					9.57634e-11	2.15645e-10	0.003330	1	0
RUSC2	9853	broad.mit.edu	37	9	35548090	35548090	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:35548090G>A	ENST00000455600.1	+	2	2141	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	524						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGCGCTTGAGTGAGGGCC	0.667000													4	39					0	0	0.000602	0	0
STK24	8428	broad.mit.edu	37	13	99127125	99127125	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:99127125G>A	ENST00000397517.2	-	5	623	c.547C>T	c.(547-549)Cca>Tca	p.P183S	STK24_ENST00000376547.3_Missense_Mutation_p.P195S|STK24_ENST00000539966.1_Missense_Mutation_p.P164S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	195	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCCAGAATGGGGTGCCCACG	0.632000													53	29					0	0	0.003610	0	0
MYO15A	51168	broad.mit.edu	37	17	18023225	18023225	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:18023225C>T	ENST00000205890.5	+	2	1449	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	371	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			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)					CTACTTTGATCCCTACGGAGT	0.592000													21	111					0	0	0.002299	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743063	26743063	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:26743063C>A	ENST00000396005.3	-	1	508	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V67F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	67					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTCCCCAGGACCGTGACAGCT	0.507000													33	30					2.68265e-12	6.10119e-12	0.002836	1	0
IGF1R	3480	broad.mit.edu	37	15	99500369	99500369	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:99500369G>A	ENST00000268035.6	+	21	4413	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E1267K|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1268	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAGCATCAAAGAGGAGATGGA	0.567000													25	33					0	0	0.002780	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768105	31768105	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:31768105G>A	ENST00000240587.4	-	2	2921	c.2594C>T	c.(2593-2595)cCt>cTt	p.P865L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	865					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GATGCTGGAAGGAGTGGAGGA	0.547000													18	65					0	0	0.000958	0	0
FPR1	2357	broad.mit.edu	37	19	52250117	52250117	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:52250117T>C	ENST00000595042.1	-	3	272	c.131A>G	c.(130-132)aAc>aGc	p.N44S	FPR1_ENST00000304748.4_Missense_Mutation_p.N44S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	44					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CACAAGCCCGTTGCCCAGGAC	0.532000													39	13					0	0	0.001287	0	0
KRT71	112802	broad.mit.edu	37	12	52946764	52946764	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:52946764C>T	ENST00000267119.5	-	1	167	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	33	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCCTGCCCGGAAGGAGGA	0.652000													23	85					0	0	0.004656	0	0
CHRM3	1131	broad.mit.edu	37	1	240071827	240071827	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:240071827C>T	ENST00000255380.4	+	5	1855	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	359					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GACATTGGCTCCGAGACGAGA	0.572000													3	10					0	0	0.004672	0	0
IKZF1	10320	broad.mit.edu	37	7	50467675	50467675	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:50467675G>A	ENST00000331340.3	+	8	1065	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	IKZF1_ENST00000439701.1_Missense_Mutation_p.E262K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E217K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E262K|IKZF1_ENST00000438033.1_Missense_Mutation_p.E217K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E217K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E74K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E161K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	304					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAGGAGAACGAAATGATGAA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								10	5					0	0	0.000978	0	0
IL17A	3605	broad.mit.edu	37	6	52052559	52052559	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:52052559G>A	ENST00000340057.1	+	2	231	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	62					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATCCCAAAAGGTCCTCAGATT	0.443000													22	75					0	0	0.002299	0	0
NEBL	10529	broad.mit.edu	37	10	21185923	21185923	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:21185923C>T	ENST00000377122.4	-	2	513	c.117G>A	c.(115-117)atG>atA	p.M39I	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.M39I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	39					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCCAATTCCATGCTTAAGT	0.333000													116	25					0	0	0.003610	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792001	8792001	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:8792001C>T	ENST00000447110.1	-	10	1227	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	PIK3R5_ENST00000584803.1_Missense_Mutation_p.G368E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.G368E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	368				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGGGCCGGCCCCGAGGCCTG	0.627000													6	47					0	0	0.003080	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717680	142717680	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:142717680C>T	ENST00000381779.4	-	2	1470	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	SLITRK4_ENST00000338017.4_Silent_p.V415V|SLITRK4_ENST00000356928.1_Silent_p.V415V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	415						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTAATCACTGTAATTT	0.393000													53	7					0	0	0.003610	0	0
HSPB2	3316	broad.mit.edu	37	11	111784565	111784565	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:111784565C>T	ENST00000304298.3	+	2	1083	c.495C>T	c.(493-495)ctC>ctT	p.L165L	HSPB2_ENST00000537382.1_Silent_p.L165L|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_5'UTR	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	165					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TCTCCCTGCTCCCTGCGCCTC	0.577000													19	30					0	0	0.001216	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496484	113496484	+	Silent	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:113496484T>C	ENST00000541405.1	-	9	2182	c.1659A>G	c.(1657-1659)ttA>ttG	p.L553L	CKAP2L_ENST00000302450.6_Silent_p.L718L|NT5DC4_ENST00000327581.4_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	718						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACTTCTAACAGTTCAT	0.443000													49	86					0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72923658	72923658	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:72923658G>A	ENST00000268489.5	-	4	4092	c.3420C>T	c.(3418-3420)acC>acT	p.T1140T	ZFHX3_ENST00000397992.5_Silent_p.T226T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1140					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCTGCGGATGGTGAAGATCT	0.642000													14	20					0	0	0.004990	0	0
LTN1	26046	broad.mit.edu	37	21	30339415	30339415	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:30339415G>A	ENST00000361371.4	-	10	1548	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	LTN1_ENST00000389194.2_Silent_p.S512S|LTN1_ENST00000389195.2_Silent_p.S512S	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	466							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGGCTTCCCAGGAACTTAGAG	0.413000													39	88					0	0	0.004878	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142526862	142526862	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:142526862T>C	ENST00000378004.3	+	20	2259	c.1904T>C	c.(1903-1905)cTt>cCt	p.L635P	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.L635P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	635	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGCATCCTTAATTCCAGC	0.483000													21	38					0	0	0.001216	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672908	141672908	+	Silent	SNP	G	G	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:141672908G>T	ENST00000547270.1	-	1	665	c.582C>A	c.(580-582)tcC>tcA	p.S194S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	194					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAGAGAAAGGAATAAAATA	0.418000													12	51					5.50884e-06	1.23139e-05	0.001368	1	0
DBR1	51163	broad.mit.edu	37	3	137888984	137888984	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:137888984G>A	ENST00000260803.4	-	4	607	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	152						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTCTCACATGATATATACTC	0.303000													183	37					0	0	0.003610	0	0
TMEM41B	440026	broad.mit.edu	37	11	9321194	9321194	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:9321194G>A	ENST00000528080.1	-	2	514	c.176C>T	c.(175-177)tCc>tTc	p.S59F	TMEM41B_ENST00000527813.1_Missense_Mutation_p.S59F|TMEM41B_ENST00000533723.1_Missense_Mutation_p.S59F	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	59						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TAAGAAAATGGACACCAATAT	0.308000													46	44					0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113192706	113192706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:113192706C>T	ENST00000401783.2	-	33	5714	c.5378G>A	c.(5377-5379)gGa>gAa	p.G1793E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1770E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1793	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCGGATTTCCTGGAGCCTT	0.423000													20	2					0	0	0.001882	0	0
U2SURP	23350	broad.mit.edu	37	3	142769880	142769880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:142769880C>T	ENST00000397933.2	+	24	2699	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	U2SURP_ENST00000493598.2_Missense_Mutation_p.L881F|U2SURP_ENST00000473835.2_Missense_Mutation_p.L882F			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	882					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGAGATAAACTTCTTCAACG	0.338000													17	4					0	0	0.004990	0	0
SDK1	221935	broad.mit.edu	37	7	4152989	4152989	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:4152989C>T	ENST00000404826.2	+	24	3642	c.3503C>T	c.(3502-3504)aCc>aTc	p.T1168I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1168I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1168	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCATCCAGACCCTGCAGGCC	0.597000													75	73					0	0	0.003610	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170412	90170412	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:90170412C>T	ENST00000333209.3	-	2	1368	c.850G>A	c.(850-852)Gtg>Atg	p.V284M		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	284								p.V284M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGCAGCGGCACCTTCTCTGGA	0.567000													26	101					0	0	0.001061	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679106	37679106	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:37679106G>A	ENST00000379800.3	-	1	697	c.288C>T	c.(286-288)agC>agT	p.S96S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	96	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGTCTTCGAGGCTGGGTCCCA	0.453000													20	57					0	0	0.001216	0	0
MUC16	94025	broad.mit.edu	37	19	9071825	9071825	+	Silent	SNP	T	T	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9071825T>G	ENST00000397910.4	-	3	15824	c.15621A>C	c.(15619-15621)acA>acC	p.T5207T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5209	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGAAAACTTGTGTCCGTGG	0.458000													40	194					0	0	0.001287	0	0
OR7G3	390883	broad.mit.edu	37	19	9237431	9237431	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9237431G>A	ENST00000305444.2	-	1	195	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAAGGACAGGATAGAGAGG	0.552000													74	41					0	0	0.003610	0	0
CXorf22	170063	broad.mit.edu	37	X	35994002	35994002	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:35994002G>A	ENST00000297866.5	+	15	2751	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	895										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAGGAAGAGGGATAGCATTTT	0.333000													51	13					0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159273949	159273949	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:159273949C>T	ENST00000368115.1	+	4	407	c.308C>T	c.(307-309)cCt>cTt	p.P103L	FCER1A_ENST00000368114.1_Missense_Mutation_p.P70L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	103	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAGAGTGAACCTGTGTACCTG	0.393000													36	17					0	0	0.001706	0	0
GSS	2937	broad.mit.edu	37	20	33539633	33539633	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:33539633A>G	ENST00000216951.2	-	2	121	c.23T>C	c.(22-24)cTc>cCc	p.L8P	GSS_ENST00000451957.2_Missense_Mutation_p.L8P	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	8					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ATCCTGCAAGAGGCTCCCCCA	0.597000													17	27					0	0	0.004990	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473102	22473102	+	RNA	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:22473102C>A	ENST00000557788.2	-	0	168																											GGCTGGCGGACCCAGCTCCAC	0.602000													61	187					1.12612e-26	2.58045e-26	0.003610	1	0
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:44666019C>T	ENST00000454036.1	+	6	752	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	SLC12A5_ENST00000372315.1_Silent_p.L203L|SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.L203L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577000													18	25					0	0	0.006122	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419246	37419246	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:37419246G>C	ENST00000374660.1	+	3	381	c.282G>C	c.(280-282)gaG>gaC	p.E94D	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E94D|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E94D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGTGAGATTTTGTCAG	0.403000													8	26					0	0	0.003080	0	0
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642000													7	75					0	0	0.001984	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453942	84453942	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:84453942C>T	ENST00000377084.2	-	1	2586	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	567	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCATGAAATCCTTTCTAAAGA	0.527000													7	35					0	0	0.001984	0	0
GPR20	2843	broad.mit.edu	37	8	142367699	142367699	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:142367699G>A	ENST00000377741.3	-	2	415	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	109						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACAGCGAAGCGCGTGGGCAGG	0.617000													25	41					0	0	0.002780	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503929	140503929	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140503929G>A	ENST00000194152.1	+	1	2349	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTTAAGGAAAACCCCA	0.448000													22	45					0	0	0.003954	0	0
RGPD4	285190	broad.mit.edu	37	2	108487225	108487225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:108487225G>A	ENST00000408999.3	+	20	2842	c.2765G>A	c.(2764-2766)gGa>gAa	p.G922E	RGPD4_ENST00000354986.4_Missense_Mutation_p.G922E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	922					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTGCTGATGGATTTAAATTT	0.388000													77	98					0	0	0.003610	0	0
ARF5	381	broad.mit.edu	37	7	127229613	127229613	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:127229613C>T	ENST00000000233.5	+	3	377	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	75					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GGACAAGATTCGGCCTCTGTG	0.488000													14	72					0	0	0.004990	0	0
DDO	8528	broad.mit.edu	37	6	110714493	110714493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:110714493C>T	ENST00000368924.3	-	5	610	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	DDO_ENST00000368923.3_Missense_Mutation_p.E140K|DDO_ENST00000368925.1_Missense_Mutation_p.E171K	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	171					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGATGAAGTTCCCACAGGTCT	0.498000													48	47					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179604775	179604775	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179604775C>T	ENST00000589042.1	-	48	13409	c.13185G>A	c.(13183-13185)ctG>ctA	p.L4395L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.L4078L|TTN_ENST00000342175.6_Silent_p.L4224L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.L4032L|TTN_ENST00000359218.5_Silent_p.L4157L|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4078	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATTTTCAGGTTTAATC	0.488000													35	34					0	0	0.003271	0	0
OR52B2	255725	broad.mit.edu	37	11	6191344	6191344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:6191344C>T	ENST00000530810.1	-	1	294	c.213G>A	c.(211-213)atG>atA	p.M71I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGATGTCCATGACGGCCA	0.493000													84	85					0	0	0.003610	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279331	279331	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:279331G>A	ENST00000382352.3	+	1	1595	c.1104G>A	c.(1102-1104)cgG>cgA	p.R368R		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	368							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTTACTGCCGGAAGGGCATCG	0.617000													48	42					0	0	0.003610	0	0
ABHD2	11057	broad.mit.edu	37	15	89698640	89698640	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:89698640G>A	ENST00000352732.5	+	5	933	c.413G>A	c.(412-414)aGc>aAc	p.S138N	ABHD2_ENST00000355100.3_Missense_Mutation_p.S138N|ABHD2_ENST00000565973.1_Missense_Mutation_p.S138N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	138						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCAATCACAGCGAGAAGCAA	0.478000													40	54					0	0	0.003610	0	0
RPUSD4	84881	broad.mit.edu	37	11	126073509	126073509	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:126073509G>A	ENST00000298317.4	-	7	991	c.938C>T	c.(937-939)tCg>tTg	p.S313L	RPUSD4_ENST00000533628.1_Missense_Mutation_p.S282L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	313					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GCGGGCCTTCGACTGTTCTAG	0.577000													18	42					0	0	0.001216	0	0
PEAR1	375033	broad.mit.edu	37	1	156873814	156873814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:156873814G>A	ENST00000338302.3	+	3	321	c.96G>A	c.(94-96)tgG>tgA	p.W32*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.W32*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	32	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGCTTCTGGGAAAGGTGAG	0.592000													55	41					0	0	0.003610	0	0
OR4S2	219431	broad.mit.edu	37	11	55418383	55418383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:55418383G>A	ENST00000312422.2	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCATTCCATGGAAAAAATAAA	0.328000													21	43					0	0	0.002299	0	0
NUP98	4928	broad.mit.edu	37	11	3797138	3797138	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:3797138G>A	ENST00000324932.7	-	5	889	c.469C>T	c.(469-471)Cct>Tct	p.P157S	NUP98_ENST00000397004.4_Missense_Mutation_p.P157S|NUP98_ENST00000397007.4_Missense_Mutation_p.P157S|NUP98_ENST00000359171.4_Missense_Mutation_p.P157S|NUP98_ENST00000355260.3_Missense_Mutation_p.P157S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	157	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCCAGTAGGAGCAGCTGTA	0.398000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								80	58					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179475004	179475004	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179475004G>A	ENST00000589042.1	-	271	51473	c.51249C>T	c.(51247-51249)gtC>gtT	p.V17083V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V15442V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.V8210V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V14515V|TTN_ENST00000460472.2_Silent_p.V8018V|TTN_ENST00000359218.5_Silent_p.V8143V|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15442	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGCTCCAGGACATAATGAA	0.418000													77	109					0	0	0.003610	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314416	67314416	+	Silent	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:67314416T>C	ENST00000360461.5	+	1	3004	c.469T>C	c.(469-471)Tta>Cta	p.L157L	PLEKHG4_ENST00000450733.1_Intron|PLEKHG4_ENST00000427155.2_Silent_p.L157L|PLEKHG4_ENST00000379344.3_Silent_p.L157L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	157					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGAGACCCTTTATCAGAAAT	0.577000													33	72					0	0	0.003271	0	0
DBH	1621	broad.mit.edu	37	9	136501646	136501646	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:136501646C>T	ENST00000393056.2	+	1	165	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	51					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTATCACATCCCCCTGGACC	0.642000													19	7					0	0	0.006122	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304486	28304486	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:28304486C>T	ENST00000284987.5	-	6	2007	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	629	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGTTCATGACGAAATGATTT	0.373000													12	66					0	0	0.004007	0	0
TRIM7	81786	broad.mit.edu	37	5	180625727	180625727	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:180625727C>T	ENST00000393315.1	-	5	1024	c.327G>A	c.(325-327)aaG>aaA	p.K109K	TRIM7_ENST00000361809.3_Silent_p.K109K|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.K135K|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Silent_p.K109K|TRIM7_ENST00000274773.7_Silent_p.K317K|CTC-338M12.6_ENST00000509080.1_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	317						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGACAAAGGTCTTGAGAGAAA	0.527000													11	27					0	0	0.000978	0	0
SNAP91	9892	broad.mit.edu	37	6	84291985	84291985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:84291985C>T	ENST00000428679.2	-	23	2698	c.2105G>A	c.(2104-2106)gGg>gAg	p.G702E	SNAP91_ENST00000520302.1_Missense_Mutation_p.G672E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G702E|SNAP91_ENST00000521743.1_Missense_Mutation_p.G702E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G395E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G395E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G702E|SNAP91_ENST00000439399.2_Missense_Mutation_p.G702E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G702E			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	702					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGGCGTTGTCCCAAAAGCTGC	0.453000													28	27					0	0	0.001271	0	0
DSCAM	1826	broad.mit.edu	37	21	41450723	41450723	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41450723G>A	ENST00000400454.1	-	26	5079	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1534	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCATACAGGATGTAGGACT	0.582000													29	26					0	0	0.001786	0	0
ALG10B	144245	broad.mit.edu	37	12	38715009	38715009	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:38715009G>A	ENST00000308742.4	+	3	1732	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	472					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGGTTTATGTGGTAATATC	0.308000													65	34					0	0	0.003610	0	0
KCNH1	3756	broad.mit.edu	37	1	210970930	210970930	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:210970930C>T	ENST00000367007.4	-	9	1923	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	KCNH1_ENST00000271751.4_Missense_Mutation_p.G612E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	612					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACGCTCTCTCCTGCATGGTA	0.607000													42	30					0	0	0.001485	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													4	74					0	0	0.001984	0	0
KMT2A	4297	broad.mit.edu	37	11	118372446	118372446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118372446C>T	ENST00000534358.1	+	26	6402	c.6379C>T	c.(6379-6381)Cga>Tga	p.R2127*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R2124*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R2086*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATCACCAGACCGACCTCCTCA	0.428000													34	70					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179454707	179454707	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179454707G>A	ENST00000589042.1	-	304	61969	c.61745C>T	c.(61744-61746)aCc>aTc	p.T20582I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T18941I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11709I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18014I|TTN_ENST00000460472.2_Missense_Mutation_p.T11517I|TTN_ENST00000359218.5_Missense_Mutation_p.T11642I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18941	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTCTTTGGTTACATTGGT	0.433000													25	30					0	0	0.003954	0	0
DSCAM	1826	broad.mit.edu	37	21	41550861	41550861	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41550861G>A	ENST00000400454.1	-	15	3417	c.2940C>T	c.(2938-2940)gaC>gaT	p.D980D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	980					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D980D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACCTGCCTCGTCCGCCGTGA	0.587000													37	22					0	0	0.005524	0	0
NR2E1	7101	broad.mit.edu	37	6	108502054	108502054	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:108502054C>T	ENST00000368986.4	+	7	1491	c.783C>T	c.(781-783)atC>atT	p.I261I	NR2E1_ENST00000368983.3_Silent_p.I298I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	261	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAGATCATATCTGAAA	0.373000													43	24					0	0	0.002222	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743064	26743064	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:26743064C>T	ENST00000396005.3	-	1	507	c.198G>A	c.(196-198)acG>acA	p.T66T	SLC5A12_ENST00000280467.6_Silent_p.T66T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	66					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCCCCAGGACCGTGACAGCTG	0.512000													34	29					0	0	0.003271	0	0
DGKZ	8525	broad.mit.edu	37	11	46400584	46400584	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:46400584A>G	ENST00000454345.1	+	29	3151	c.3026A>G	c.(3025-3027)gAc>gGc	p.D1009G	DGKZ_ENST00000343674.6_Missense_Mutation_p.D837G|DGKZ_ENST00000456247.2_Missense_Mutation_p.D820G|DGKZ_ENST00000527911.1_Missense_Mutation_p.D821G|DGKZ_ENST00000528615.1_Missense_Mutation_p.D599G|DGKZ_ENST00000318201.8_Missense_Mutation_p.D798G|DGKZ_ENST00000395574.3_Missense_Mutation_p.D787G|DGKZ_ENST00000421244.2_Missense_Mutation_p.D821G|DGKZ_ENST00000543978.1_Missense_Mutation_p.D173G|DGKZ_ENST00000532868.2_Missense_Mutation_p.D825G	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1009					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATGCACCGAGACGAGCAGAGT	0.682000													10	7					0	0	0.000443	0	0
IGSF22	283284	broad.mit.edu	37	11	18735421	18735421	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:18735421G>A	ENST00000513874.1	-	14	2212	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	691	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGTGCAGAGTGGCCGTGGCTG	0.637000													12	20					0	0	0.000978	0	0
SYTL2	54843	broad.mit.edu	37	11	85436334	85436334	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:85436334A>C	ENST00000359152.5	-	1	2737	c.2738T>G	c.(2737-2739)gTa>gGa	p.V913G	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V389G|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V389G	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACTTTCTCTACAGTCTCCGA	0.478000													16	35					0	0	0.000958	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407474	55407474	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:55407474C>T	ENST00000341048.4	-	10	1252	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	ANKRD55_ENST00000434982.2_Silent_p.R79R|ANKRD55_ENST00000504958.2_Silent_p.R324R|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	366										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTATCGGTCCCTGCTGGGAT	0.507000													86	124					0	0	0.003610	0	0
BMS1	9790	broad.mit.edu	37	10	43293981	43293981	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:43293981A>G	ENST00000374518.4	+	12	2218	c.2155A>G	c.(2155-2157)Aac>Gac	p.N719D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	719					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTTCGTGTCAACCAGCCTGA	0.463000													83	16					0	0	0.003610	0	0
RBM48	84060	broad.mit.edu	37	7	92161833	92161833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:92161833G>A	ENST00000481551.1	+	3	459	c.418G>A	c.(418-420)Gca>Aca	p.A140T	RBM48_ENST00000265732.5_Missense_Mutation_p.A140T			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	140							nucleotide binding										AATGCGGAAGGCATATGTAGT	0.393000													8	45					0	0	0.003080	0	0
OR52K1	390036	broad.mit.edu	37	11	4510460	4510460	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4510460C>T	ENST00000307632.3	+	1	352	c.330C>T	c.(328-330)tcC>tcT	p.S110S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTCCTTCTCCATCATGGAGT	0.527000													21	18					0	0	0.001523	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780678	106780678	+	RNA	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:106780678C>T	ENST00000390612.2	-	0	257																											CCAGTCCCTTCCCTGGGGGCT	0.562000													22	116					0	0	0.001882	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123409	140123409	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:140123409C>T	ENST00000458420.3	+	4	628	c.438C>T	c.(436-438)gtC>gtT	p.V146V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	146	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGTGGTCCATATACAGG	0.537000										HNSCC(16;0.037)			51	5					0	0	0.003610	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681148	234681148	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:234681148G>A	ENST00000305139.6	+	5	1681	c.1542G>A	c.(1540-1542)cgG>cgA	p.R514R	UGT1A4_ENST00000373409.3_Silent_p.R516R|UGT1A3_ENST00000482026.1_Silent_p.R516R|UGT1A5_ENST00000373414.3_Silent_p.R516R|UGT1A6_ENST00000373424.1_Silent_p.R247R|UGT1A7_ENST00000373426.3_Silent_p.R512R|UGT1A8_ENST00000373450.4_Silent_p.R512R|UGT1A9_ENST00000354728.4_Silent_p.R512R|UGT1A10_ENST00000344644.5_Silent_p.R512R|UGT1A1_ENST00000305208.5_Silent_p.R515R	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		ATGGCTACCGGAAATGCTTGG	0.468000													26	23					0	0	0.004656	0	0
SDK2	54549	broad.mit.edu	37	17	71419607	71419607	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:71419607C>T	ENST00000392650.3	-	14	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	SDK2_ENST00000388726.3_Silent_p.R605R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	605	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGATGGCTCGCCTTTCCACGG	0.597000													4	39					0	0	0.000248	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056311	16056311	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:16056311A>G	ENST00000375799.3	+	14	2322	c.2095A>G	c.(2095-2097)Aag>Gag	p.K699E	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.K679E|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	699					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCTTCTTTGAAGTCAGCCAT	0.547000													11	62					0	0	0.001368	0	0
INPPL1	3636	broad.mit.edu	37	11	71941854	71941854	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:71941854C>T	ENST00000541756.1	+	11	1416	c.486C>T	c.(484-486)ttC>ttT	p.F162F	INPPL1_ENST00000538751.1_Silent_p.F162F|INPPL1_ENST00000298229.2_Silent_p.F404F			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	404					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGAGGCCTTCTGCCAGCTGT	0.617000													15	20					0	0	0.003163	0	0
MAT2A	4144	broad.mit.edu	37	2	85769831	85769831	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:85769831C>T	ENST00000306434.3	+	7	1035	c.912C>T	c.(910-912)tcC>tcT	p.S304S	MAT2A_ENST00000409017.1_Silent_p.S241S	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	304					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGCAAAATCCCTTGTTAAAG	0.468000													27	22					0	0	0.005443	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570154	47570154	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:47570154C>T	ENST00000253048.5	-	15	3408	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1124							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCCAGCACGCGGGGGTCGTA	0.746000													4	24					0	0	0.000602	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:159505705G>A	ENST00000334857.2	-	1	137	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000													41	31					0	0	0.001485	0	0
TNP2	7142	broad.mit.edu	37	16	11362754	11362754	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:11362754G>A	ENST00000312693.3	-	1	435	c.366C>T	c.(364-366)atC>atT	p.I122I	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	122					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACACCTGCTGGATCCTCTTGG	0.562000													20	26					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179635022	179635022	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179635022C>T	ENST00000589042.1	-	36	8630	c.8406G>A	c.(8404-8406)aaG>aaA	p.K2802K	TTN_ENST00000360870.5_Silent_p.K2802K|TTN_ENST00000591111.1_Silent_p.K2802K|TTN_ENST00000342175.6_Silent_p.K2756K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K2802K|TTN_ENST00000460472.2_Silent_p.K2756K|TTN_ENST00000359218.5_Silent_p.K2756K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2540							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCACATCCTTTGGCTTTT	0.403000													34	65					0	0	0.004289	0	0
FRMPD2	143162	broad.mit.edu	37	10	49430399	49430399	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:49430399C>A	ENST00000374201.3	-	12	1714	c.1412G>T	c.(1411-1413)gGg>gTg	p.G471V	FRMPD2_ENST00000407470.4_Missense_Mutation_p.G440V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G447V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	471	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGCAAGGACCCCCAGCTGCAG	0.532000													6	133					0.00116845	0.00259908	0.001168	1	0
GABRB2	2561	broad.mit.edu	37	5	160721238	160721238	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:160721238C>T	ENST00000274547.2	-	11	1606	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	GABRB2_ENST00000520240.1_Silent_p.K425K|GABRB2_ENST00000517547.1_Silent_p.K265K|GABRB2_ENST00000353437.6_Silent_p.K425K|GABRB2_ENST00000517901.1_Silent_p.K362K|GABRB2_ENST00000393959.1_Silent_p.K463K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	463					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCGACTTTTCTTTTGCGCCA	0.522000													10	30					0	0	0.000443	0	0
PTPRT	11122	broad.mit.edu	37	20	40827886	40827886	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:40827886C>T	ENST00000373198.3	-	17	2786	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R	PTPRT_ENST00000373187.1_Missense_Mutation_p.G829R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G829R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G832R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G819R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G838R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G819R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	829					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTACTGAATCCGTTGACGTCC	0.567000													229	339					0	0	0.003610	0	0
OPCML	4978	broad.mit.edu	37	11	132306020	132306020	+	Silent	SNP	C	C	T	rs150470513		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:132306020C>T	ENST00000331898.7	-	6	1475	c.897G>A	c.(895-897)acG>acA	p.T299T	OPCML_ENST00000541867.1_Silent_p.T299T|OPCML_ENST00000524381.1_Silent_p.T292T|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.T258T	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	299	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAAGCTTGTTCGTGGCCACAC	0.488000													33	25					0	0	0.003755	0	0
AKAP3	10566	broad.mit.edu	37	12	4737278	4737278	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:4737278C>T	ENST00000545990.2	-	5	1314	c.790G>A	c.(790-792)Gag>Aag	p.E264K	AKAP3_ENST00000228850.1_Missense_Mutation_p.E264K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	264					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTCTTTCTCTCCCGAGGAAAG	0.443000													12	54					0	0	0.000978	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:141315179C>T	ENST00000325617.5	-	11	1606	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_ENST00000537281.1_Missense_Mutation_p.R389Q|CLGN_ENST00000414773.1_Missense_Mutation_p.R389Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	389					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGGAATTTTTCGAGGACTCCA	0.343000													9	28					0	0	0.000673	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722674	58722674	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:58722674G>A	ENST00000300079.5	+	6	482	c.432G>A	c.(430-432)ggG>ggA	p.G144G	GLYATL1_ENST00000317391.4_Silent_p.G113G|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	113						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TAGGTGAGGGGATAAGAGTGG	0.428000													34	56					0	0	0.003755	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				68	26					0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154157053	154157053	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:154157053C>T	ENST00000360256.4	-	14	5212	c.5012G>A	c.(5011-5013)cGt>cAt	p.R1671H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1671					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGAGTAGTACGAGTTATTTC	0.408000													48	7					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40827885	40827885	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:40827885C>T	ENST00000373198.3	-	17	2787	c.2552G>A	c.(2551-2553)gGa>gAa	p.G851E	PTPRT_ENST00000373187.1_Missense_Mutation_p.G829E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G829E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G832E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G819E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G838E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G819E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	829					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTACTGAATCCGTTGACGTC	0.562000													231	340					0	0	0.003610	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448144	87448144	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:87448144C>T	ENST00000268616.4	-	10	1285	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	356					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCTCTGACTTCTCCCTGTGAA	0.632000													13	17					0	0	0.002450	0	0
KMT2B	9757	broad.mit.edu	37	19	36223707	36223707	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:36223707C>T	ENST00000222270.7	+	28	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	WBP7_ENST00000420124.1_Missense_Mutation_p.S2086L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					ACGCCTCCTTCGGGGCCAGGA	0.672000													4	13					0	0	0.000602	0	0
DPP8	54878	broad.mit.edu	37	15	65756209	65756209	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:65756209A>C	ENST00000341861.5	-	15	3489	c.1909T>G	c.(1909-1911)Tct>Gct	p.S637A	DPP8_ENST00000559233.1_Missense_Mutation_p.S637A|DPP8_ENST00000321147.6_Missense_Mutation_p.S637A|DPP8_ENST00000321118.7_Missense_Mutation_p.S637A|DPP8_ENST00000300141.6_Missense_Mutation_p.S621A|DPP8_ENST00000358939.4_Missense_Mutation_p.S621A|DPP8_ENST00000339244.5_Missense_Mutation_p.S464A	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	637					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTCAAAAGAGAAAATTTCT	0.398000													23	25					0	0	0.003330	0	0
ZNF646	9726	broad.mit.edu	37	16	31090737	31090737	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:31090737C>T	ENST00000394979.2	+	1	3515	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1031L			O15015	ZN646_HUMAN	zinc finger protein 646	1031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCAGGCACCCCCTTGGGAGAC	0.587000													50	96					0	0	0.003610	0	0
GXYLT2	727936	broad.mit.edu	37	3	73024140	73024140	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:73024140G>A	ENST00000389617.4	+	7	1323	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	388					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCCCTTTCAAGACAATCTCTT	0.348000													79	32					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100479687	100479687	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:100479687A>G	ENST00000395996.1	+	24	3602	c.3491A>G	c.(3490-3492)tAt>tGt	p.Y1164C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y1164C|VPS13B_ENST00000358544.2_Missense_Mutation_p.Y1164C			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1164					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCAGCATATATACCCTTCTT	0.428000													58	152					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103348859	103348859	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:103348859A>G	ENST00000358392.2	-	64	5220	c.4903T>C	c.(4903-4905)Tgg>Cgg	p.W1635R	COL11A1_ENST00000353414.4_Missense_Mutation_p.W1584R|COL11A1_ENST00000370096.3_Missense_Mutation_p.W1623R|COL11A1_ENST00000512756.1_Missense_Mutation_p.W1507R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1623	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGATCAATCCAATATTCACCT	0.323000													35	8					0	0	0.004878	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715123	40715123	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:40715123C>T	ENST00000253055.3	+	6	1837	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	517					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGGCCATTCGCCGTGAGTA	0.557000													11	78					0	0	0.000673	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403158	1403158	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:1403158C>T	ENST00000270349.9	-	13	1773	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G549E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	549					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GATGTAGGCTCCGTAGTGGGG	0.622000													15	19					0	0	0.004007	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854200	64854200	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:64854200G>A	ENST00000294258.3	+	5	569	c.417G>A	c.(415-417)gaG>gaA	p.E139E		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	139					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGATCGATGAGGTGGTGAGCC	0.562000													35	52					0	0	0.004878	0	0
FOXR1	283150	broad.mit.edu	37	11	118850239	118850239	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118850239C>T	ENST00000317011.3	+	4	697	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	158					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTCCAGAGTCGGAGGCTTCG	0.602000													34	51					0	0	0.002445	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141493	143141493	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:143141493G>A	ENST00000332690.1	+	1	948	c.948G>A	c.(946-948)ggG>ggA	p.G316G	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	316					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAAGGTGTGGGACACCTTGAG	0.483000													16	112					0	0	0.006122	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401060	17401060	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:17401060C>T	ENST00000470360.1	+	4	449	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SLC7A2_ENST00000494857.1_Missense_Mutation_p.S71F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S71F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S111F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S111F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	71					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCGTGGTGTCCTTCCTCATT	0.612000													20	27					0	0	0.001216	0	0
ZNF713	349075	broad.mit.edu	37	7	56006850	56006850	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:56006850G>A	ENST00000429591.2	+	4	482	c.444G>A	c.(442-444)aaG>aaA	p.K148K	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAACCACAAGAGATATTTAG	0.408000													6	28					0	0	0.001168	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:192153620G>A	ENST00000367460.3	+	5	825	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000													8	27					0	0	0.003080	0	0
FTMT	94033	broad.mit.edu	37	5	121187736	121187736	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:121187736C>T	ENST00000321339.1	+	1	87	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	26					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCTGCTGCTTCGCGCTCCCGC	0.741000													10	14					0	0	0.000443	0	0
PSG4	5672	broad.mit.edu	37	19	43698609	43698609	+	Missense_Mutation	SNP	C	C	T	rs150596916	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:43698609C>T	ENST00000405312.3	-	5	1363	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PSG4_ENST00000433626.2_Missense_Mutation_p.G283R|PSG4_ENST00000244295.9_Missense_Mutation_p.G283R	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	376	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCTTTTGTCCTGATAGCTGA	0.458000													160	71					0	0	0.003610	0	0
FFAR4	338557	broad.mit.edu	37	10	95347060	95347060	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:95347060C>G	ENST00000371483.4	+	4	884	c.828C>G	c.(826-828)ttC>ttG	p.F276L	FFAR4_ENST00000371481.4_Missense_Mutation_p.F260L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		AGCAGGACTTCCGGCTCTTCC	0.547000													96	13					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48626838	48626838	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:48626838C>G	ENST00000328333.8	-	17	2343	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H	COL7A1_ENST00000454817.1_Missense_Mutation_p.D746H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	746	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTCAGTATCTGGCTCCAGT	0.622000													6	51					0	0	0.001984	0	0
CFHR3	10878	broad.mit.edu	37	1	196749096	196749096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:196749096C>T	ENST00000471440.2	+	3	497	c.423C>T	c.(421-423)atC>atT	p.I141I	CFHR3_ENST00000391985.3_Silent_p.I141I|CFHR3_ENST00000367425.4_Silent_p.I141I					complement factor H-related 3									p.I141I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CCAGATGCATCCGTGTCAGTA	0.483000													24	26					0	0	0.001061	0	0
CSPG5	10675	broad.mit.edu	37	3	47618694	47618694	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:47618694G>A	ENST00000383738.2	-	2	2920	c.822C>T	c.(820-822)gaC>gaT	p.D274D	CSPG5_ENST00000456150.1_Silent_p.D136D|CSPG5_ENST00000264723.4_Silent_p.D274D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	274	Interaction with TNC and TNR (By similarity).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		cttcatccAAGTCATCATAAA	0.493000													11	1					0	0	0.000978	0	0
CACNA1E	777	broad.mit.edu	37	1	181726222	181726222	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:181726222G>A	ENST00000526775.1	+	29	4397	c.4232G>A	c.(4231-4233)gGg>gAg	p.G1411E	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1430E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1037E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1362E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1411E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1381E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1430E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1430					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGGAGCAAGGGGATAAGATG	0.458000													28	24					0	0	0.001061	0	0
ZNF131	7690	broad.mit.edu	37	5	43174852	43174852	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:43174852C>A	ENST00000509634.1	+	7	1843	c.1387C>A	c.(1387-1389)Caa>Aaa	p.Q463K	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.Q497K|ZNF131_ENST00000505606.2_Missense_Mutation_p.Q463K|ZNF131_ENST00000306938.4_Missense_Mutation_p.Q463K|ZNF131_ENST00000509156.1_Missense_Mutation_p.Q497K			P52739	ZN131_HUMAN	zinc finger protein 131	497						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GACTGTGGAACAAGTCCATCC	0.478000													9	31					3.09899e-07	6.94416e-07	0.004482	1	0
OR5D14	219436	broad.mit.edu	37	11	55563503	55563503	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:55563503C>T	ENST00000335605.1	+	1	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATGTTTGGCCCCTTGGTACT	0.493000													48	102					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	47					0	0	0.000443	0	0
SFTPB	6439	broad.mit.edu	37	2	85892780	85892780	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:85892780G>A	ENST00000342375.3	-	6	666	c.531C>T	c.(529-531)gtC>gtT	p.V177V	SFTPB_ENST00000409383.1_Silent_p.V189V|SFTPB_ENST00000519937.2_Silent_p.V177V|SFTPB_ENST00000393822.3_Silent_p.V189V	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	177					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.V177V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCACAGGGAGGACGAGCTTGT	0.667000													41	48					0	0	0.003610	0	0
SF3B2	10992	broad.mit.edu	37	11	65824394	65824394	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:65824394A>G	ENST00000528302.1	+	5	638	c.584A>G	c.(583-585)cAg>cGg	p.Q195R	SF3B2_ENST00000322535.6_Missense_Mutation_p.Q212R			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	212					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACATGGGCCAGATTGGTGTG	0.557000													26	39					0	0	0.003330	0	0
OC90	729330	broad.mit.edu	37	8	133045342	133045342	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:133045342G>A	ENST00000262283.5	-	15	1538	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	OC90_ENST00000603859.1_Missense_Mutation_p.S268F|OC90_ENST00000443356.2_Missense_Mutation_p.S284F|OC90_ENST00000254627.3_Missense_Mutation_p.S268F			Q02509	OC90_HUMAN	otoconin 90	284					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGCCCCAGAGATTTAATGCC	0.453000													5	11					0	0	0.000602	0	0
CEP97	79598	broad.mit.edu	37	3	101483760	101483760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:101483760C>T	ENST00000341893.3	+	11	2715	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	CEP97_ENST00000494050.1_Missense_Mutation_p.P596S|CEP97_ENST00000327230.4_Missense_Mutation_p.P681S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	655	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGATGTTCCTCCTATATCAAG	0.408000													58	11					0	0	0.003610	0	0
SNX27	81609	broad.mit.edu	37	1	151641027	151641027	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:151641027G>A	ENST00000368843.3	+	7	1185	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	SNX27_ENST00000368838.1_Silent_p.L262L|SNX27_ENST00000458013.2_Silent_p.L355L|SNX27_ENST00000482791.1_3'UTR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	355	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCTGCTTGACCATTCGAA	0.383000													50	36					0	0	0.003610	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405666	106405666	+	RNA	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:106405666G>A	ENST00000390593.2	-	0	359																											CAGCTGCAGGGAGAACTGGTT	0.493000													101	43					0	0	0.003610	0	0
OR6C74	254783	broad.mit.edu	37	12	55641850	55641850	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55641850C>T	ENST00000343870.4	+	1	869	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATGTGAAACCCTCAGCAAAA	0.403000													38	31					0	0	0.001287	0	0
OR5B3	441608	broad.mit.edu	37	11	58170180	58170180	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:58170180G>A	ENST00000309403.2	-	1	702	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGACAAAGGCTTCTGGTAT	0.423000													19	40					0	0	0.006122	0	0
FAM47C	442444	broad.mit.edu	37	X	37026916	37026916	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:37026916C>T	ENST00000358047.3	+	1	485	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	145										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCAGATCTCCTACTACA	0.577000													36	11					0	0	0.003755	0	0
AADACL3	126767	broad.mit.edu	37	1	12785954	12785954	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:12785954G>A	ENST00000332530.3	+	3	1060	c.834G>A	c.(832-834)aaG>aaA	p.K278K	AADACL3_ENST00000359318.5_Silent_p.K348K	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	348							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTGTAAAGGGACTGTGAC	0.493000													11	31					0	0	0.001368	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844815	94844815	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:94844815C>T	ENST00000448921.1	-	7	1800	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SERPINA1_ENST00000449399.3_Missense_Mutation_p.G410R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G410R	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	410				G -> L (in Ref. 24; AA sequence).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ACCACTTTTCCCATGAAGAGG	0.493000													78	49					0	0	0.003610	0	0
C2orf49	79074	broad.mit.edu	37	2	105959566	105959566	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:105959566C>T	ENST00000258457.2	+	3	757	c.528C>T	c.(526-528)gaC>gaT	p.D176D	C2orf49_ENST00000410049.1_Silent_p.D134D|C2orf49_ENST00000437250.2_Silent_p.D172D			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	176						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AGAACCATGACTTAACGCATA	0.428000													28	23					0	0	0.001061	0	0
ANLN	54443	broad.mit.edu	37	7	36450695	36450695	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:36450695C>T	ENST00000265748.2	+	7	1536	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.R439C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	439	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCATGTCTTCGTGGCCGATT	0.368000													7	37					0	0	0.000443	0	0
RFX6	222546	broad.mit.edu	37	6	117237424	117237424	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:117237424G>A	ENST00000332958.2	+	9	935	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	307					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCCTGCTCGAAAATCCTGT	0.343000													49	36					0	0	0.003610	0	0
TEX11	56159	broad.mit.edu	37	X	69843814	69843814	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:69843814C>T	ENST00000395889.2	-	21	1937	c.1782G>A	c.(1780-1782)ccG>ccA	p.P594P	TEX11_ENST00000374320.2_Silent_p.P269P|TEX11_ENST00000374333.2_Silent_p.P579P|TEX11_ENST00000344304.3_Silent_p.P594P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	594							protein binding			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)					CTTCAGATTCCGGCATTTCAG	0.303000													34	7					0	0	0.004289	0	0
PAPLN	89932	broad.mit.edu	37	14	73731022	73731022	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:73731022A>C	ENST00000427855.1	+	21	3067	c.2965A>C	c.(2965-2967)Aag>Cag	p.K989Q	PAPLN_ENST00000555445.1_Missense_Mutation_p.K973Q|PAPLN_ENST00000554301.1_Missense_Mutation_p.K989Q|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Missense_Mutation_p.K962Q|PAPLN_ENST00000381166.3_Missense_Mutation_p.K989Q			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	989	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACTCCCAGAAGATCCAACT	0.657000													37	28					0	0	0.001287	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496483	113496483	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:113496483C>T	ENST00000541405.1	-	9	2183	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CKAP2L_ENST00000302450.6_Missense_Mutation_p.E719K|NT5DC4_ENST00000327581.4_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	719						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCCACTTCTAACAGTTCA	0.438000													49	84					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179396515	179396515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179396515G>A	ENST00000589042.1	-	358	105051	c.104827C>T	c.(104827-104829)Cga>Tga	p.R34943*	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R33302*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R26070*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R32375*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R25878*|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R26003*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33302							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGATTCGAGGGGCATGG	0.438000													29	41					0	0	0.001271	0	0
PRMT5	10419	broad.mit.edu	37	14	23393227	23393227	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:23393227G>A	ENST00000324366.8	-	12	1588	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	PRMT5_ENST00000553897.1_Silent_p.H411H|PRMT5_ENST00000397441.2_Silent_p.H438H|PRMT5_ENST00000397440.4_Silent_p.H284H|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Silent_p.H349H|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000216350.8_Silent_p.H394H|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	455					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTTTTAGGAAGTGCTGGGCTC	0.547000													34	168					0	0	0.003214	0	0
TAZ	6901	broad.mit.edu	37	X	153649022	153649022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:153649022C>T	ENST00000299328.5	+	10	1014	c.725C>T	c.(724-726)cCc>cTc	p.P242L	TAZ_ENST00000369790.4_Missense_Mutation_p.P198L|TAZ_ENST00000350743.4_Missense_Mutation_p.P212L|TAZ_ENST00000351413.4_Missense_Mutation_p.P228L|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.P212L	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	242					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCGGGAAGCCCTTCAGTGCC	0.647000													23	9					0	0	0.001061	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958776	57958776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:57958776C>T	ENST00000311591.3	+	1	871	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGAGGGAGACCGAGTGGTGTC	0.557000													41	82					0	0	0.003610	0	0
OR10H2	26538	broad.mit.edu	37	19	15839113	15839113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:15839113C>T	ENST00000305899.3	+	1	280	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GACCTGCTGTCCACCCAGCGC	0.612000													11	59					0	0	0.002450	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515407	140515407	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140515407C>T	ENST00000231134.5	+	1	608	c.391C>T	c.(391-393)Cca>Tca	p.P131S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		131	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACCATGCCCCAGAGTTCCC	0.453000													23	47					0	0	0.002780	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55714592C>T	ENST00000379668.2	+	1	247	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000													26	20					0	0	0.003330	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588503	20588503	+	RNA	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:20588503G>A	ENST00000428453.1	-	0	4247																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCCCTAGGGAAAACCTGAG	0.488000													11	65					0	0	0.000673	0	0
GCOM1	145781	broad.mit.edu	37	15	57925928	57925928	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:57925928C>T	ENST00000574161.1	+	8	1041	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	MYZAP_ENST00000380565.4_Missense_Mutation_p.R308C|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277C|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308C|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277C|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308C|GCOM1_ENST00000380568.3_Missense_Mutation_p.R308C|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239C|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308C|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308C	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		308					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCTGATTGAGCGCATGGAAAA	0.507000													40	37					0	0	0.002522	0	0
FMNL3	91010	broad.mit.edu	37	12	50062307	50062307	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:50062307G>A	ENST00000335154.5	-	2	390	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	FMNL3_ENST00000550488.1_Missense_Mutation_p.R53W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R53W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R53W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	53	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CGCAGGAGCCGGGCCTTGTCT	0.532000													17	62					0	0	0.001216	0	0
UCP1	7350	broad.mit.edu	37	4	141484552	141484552	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:141484552C>T	ENST00000262999.3	-	3	521	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	149					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGGTTTGATTCCGTGGAGATG	0.468000													18	63					0	0	0.001216	0	0
PDCL	5082	broad.mit.edu	37	9	125582800	125582800	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:125582800T>A	ENST00000259467.4	-	4	635	c.470A>T	c.(469-471)cAa>cTa	p.Q157L		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	157					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGCTTGAATTGGGGCCCCTT	0.433000													48	19					0	0	0.003610	0	0
ATP12A	479	broad.mit.edu	37	13	25276115	25276115	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:25276115A>C	ENST00000218548.6	+	14	2275	c.1942A>C	c.(1942-1944)Att>Ctt	p.I648L	ATP12A_ENST00000381946.3_Missense_Mutation_p.I642L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	642					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGCCAAAGCTATTGCCAAGAG	0.473000													82	53					0	0	0.003610	0	0
SHOC2	8036	broad.mit.edu	37	10	112724208	112724208	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:112724208C>T	ENST00000369452.4	+	2	437	c.92C>T	c.(91-93)tCt>tTt	p.S31F	SHOC2_ENST00000265277.5_Missense_Mutation_p.S31F|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	31					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAAAAGCCTCTGGAGGTTTT	0.438000													58	14					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:55539794C>T	ENST00000220676.1	+	4	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000													16	28					0	0	0.003163	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691147	18691147	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:18691147G>A	ENST00000433979.1	+	24	3374	c.3258G>A	c.(3256-3258)ggG>ggA	p.G1086G	PIK3C2G_ENST00000266497.5_Silent_p.G1086G|PIK3C2G_ENST00000538779.1_Silent_p.G1127G	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGAGGGTGGGAAAAACCCAC	0.398000													18	58					0	0	0.006122	0	0
MCPH1	79648	broad.mit.edu	37	8	6302683	6302683	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:6302683C>T	ENST00000344683.5	+	8	1516	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	MCPH1_ENST00000522905.1_Silent_p.T432T|MCPH1_ENST00000519480.1_Silent_p.T480T	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	480						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGCAAAAACCATCTCCAGTC	0.443000													37	38					0	0	0.004878	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248752	140248752	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140248752G>A	ENST00000398640.2	+	1	64	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCCTCGAATTCTGGGA	0.577000													60	56					0	0	0.003610	0	0
DACT1	51339	broad.mit.edu	37	14	59113645	59113645	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:59113645G>A	ENST00000395153.3	+	4	2340	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G	DACT1_ENST00000556859.1_Silent_p.G487G|DACT1_ENST00000395151.3_Silent_p.G487G|DACT1_ENST00000335867.4_Silent_p.G768G|DACT1_ENST00000541264.2_Silent_p.G487G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	768					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGTTCGTGGGGGAGAGCACAA	0.582000													51	33					0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220424197	220424197	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:220424197G>A	ENST00000404537.1	-	9	3032	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.Y992Y|OBSL1_ENST00000603926.1_Silent_p.Y992Y|OBSL1_ENST00000265318.4_Silent_p.Y992Y	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	992	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATCGCGAGGGTATATGATCC	0.592000											OREG0003986	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	38	55					0	0	0.001706	0	0
HACE1	57531	broad.mit.edu	37	6	105233061	105233061	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:105233061G>A	ENST00000262903.4	-	12	1484	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	HACE1_ENST00000369125.2_Missense_Mutation_p.A403V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	403					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGAATGGAAGCAGCATCTTG	0.423000													32	27					0	0	0.002445	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943841	53943841	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:53943841G>A	ENST00000263634.3	-	6	778	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ASB3_ENST00000406625.2_Missense_Mutation_p.P250L|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P253L|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P142L|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P142L	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		250					intracellular signal transduction			p.D211_L216delDKATPL(1)									AATGAACAAGGGTGTAGCTTT	0.403000													23	26					0	0	0.001882	0	0
ZNF266	10781	broad.mit.edu	37	19	9524549	9524549	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9524549G>A	ENST00000592904.1	-	5	3128	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	ZNF266_ENST00000588933.1_Missense_Mutation_p.P351L|ZNF266_ENST00000361151.1_Missense_Mutation_p.P351L|ZNF266_ENST00000588221.1_Missense_Mutation_p.P351L|ZNF266_ENST00000592292.1_Missense_Mutation_p.P351L|ZNF266_ENST00000361451.2_Missense_Mutation_p.P351L|ZNF266_ENST00000590306.1_Missense_Mutation_p.P351L			Q14584	ZN266_HUMAN	zinc finger protein 266	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ACATTTATAGGGTTTTATTCC	0.413000													59	32					0	0	0.003610	0	0
TRPV4	59341	broad.mit.edu	37	12	110240830	110240830	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:110240830G>A	ENST00000418703.2	-	3	772	c.678C>T	c.(676-678)ttC>ttT	p.F226F	TRPV4_ENST00000392719.2_Silent_p.F226F|TRPV4_ENST00000261740.2_Silent_p.F226F|TRPV4_ENST00000544971.1_Silent_p.F226F|TRPV4_ENST00000537083.1_Silent_p.F226F|TRPV4_ENST00000536838.1_Silent_p.F192F|TRPV4_ENST00000541794.1_Silent_p.F226F|TRPV4_ENST00000346520.2_Silent_p.F226F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	226					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCGAGTTAATGAACTCCCTCA	0.627000													24	12					0	0	0.002780	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958879	10958879	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:10958879A>T	ENST00000240615.2	-	1	1013	c.701T>A	c.(700-702)aTt>aAt	p.I234N		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	234					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATAGTTTTAATGGCTCTCAC	0.333000													36	20					0	0	0.001287	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:9417698G>A	ENST00000378501.2	+	26	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000													12	24					0	0	0.001368	0	0
FMNL3	91010	broad.mit.edu	37	12	50062308	50062308	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:50062308G>A	ENST00000335154.5	-	2	389	c.156C>T	c.(154-156)gcC>gcT	p.A52A	FMNL3_ENST00000550488.1_Silent_p.A52A|FMNL3_ENST00000352151.5_Silent_p.A52A|FMNL3_ENST00000293590.5_Silent_p.A52A	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	52	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCAGGAGCCGGGCCTTGTCTG	0.532000													17	59					0	0	0.001216	0	0
POTEF	728378	broad.mit.edu	37	2	130832585	130832585	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:130832585G>A	ENST00000357462.5	-	15	2553	c.2460C>T	c.(2458-2460)acC>acT	p.T820T	POTEF_ENST00000409914.2_Silent_p.T820T			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	820	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACATGATCTGGGTCATCTTCT	0.597000													72	64					0	0	0.003610	0	0
ZNF491	126069	broad.mit.edu	37	19	11917544	11917544	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:11917544G>A	ENST00000323169.5	+	3	1107	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATAAGCTTTCGAAGACACATG	0.408000													5	46					0	0	0.000602	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883787	19883787	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:19883787G>A	ENST00000300571.2	-	2	572	c.381C>T	c.(379-381)ttC>ttT	p.F127F	GPRC5B_ENST00000569847.1_Silent_p.F127F|GPRC5B_ENST00000569479.1_Silent_p.F127F|GPRC5B_ENST00000537135.1_Silent_p.F153F|GPRC5B_ENST00000535671.1_Silent_p.F127F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	127										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCCCCAGAGGAAGCGGCGGA	0.667000													11	20					0	0	0.001855	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178821885	178821885	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:178821885C>T	ENST00000234816.2	-	5	1668	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G407G	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	407	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCATAGAATCCCCTGCATTTC	0.393000													13	56					0	0	0.001855	0	0
OR1M1	125963	broad.mit.edu	37	19	9204331	9204331	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9204331C>T	ENST00000429566.3	+	1	477	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGATCATGAGCCTACGCCTCT	0.567000													88	38					0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327117	77327117	+	Silent	SNP	T	T	C	rs150608248		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:77327117T>C	ENST00000282849.5	-	20	3463	c.3045A>G	c.(3043-3045)gaA>gaG	p.E1015E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1015	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAGAGGAGTTCACGCTTCC	0.527000													36	61					0	0	0.001287	0	0
CAD	790	broad.mit.edu	37	2	27455482	27455482	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:27455482C>T	ENST00000264705.4	+	18	2974	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	CAD_ENST00000403525.1_Missense_Mutation_p.L875F|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	938	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGTCCTAGTCCTTGGCTCTGG	0.512000													36	48					0	0	0.005524	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593791	45593791	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:45593791G>A	ENST00000336156.4	-	9	1119	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Silent_p.L334L|KIAA0930_ENST00000251993.7_Silent_p.L357L|KIAA0930_ENST00000391627.2_Silent_p.L318L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	352							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GTGCCCGACAGGGACCGAGAC	0.607000													23	81					0	0	0.002299	0	0
GID4	79018	broad.mit.edu	37	17	17957494	17957494	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:17957494C>T	ENST00000268719.4	+	3	725	c.552C>T	c.(550-552)caC>caT	p.H184H	GID4_ENST00000376345.3_Silent_p.H184H	NM_024052.4	NP_076957.3			GID complex subunit 4																		GCAAAAAACACCCTTTCTTAA	0.413000													8	53					0	0	0.004482	0	0
DDR1	780	broad.mit.edu	37	6	30864589	30864589	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:30864589C>T	ENST00000324771.8	+	15	2364	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	DDR1_ENST00000361741.4_Missense_Mutation_p.P273S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.P569S|DDR1_ENST00000418800.2_Missense_Mutation_p.P569S|DDR1_ENST00000513240.1_Missense_Mutation_p.P606S|DDR1_ENST00000376568.3_Missense_Mutation_p.P606S|DDR1_ENST00000376575.3_Missense_Mutation_p.P606S|DDR1_ENST00000376570.4_Missense_Mutation_p.P569S|DDR1_ENST00000376569.3_Missense_Mutation_p.P569S|DDR1_ENST00000454612.2_Missense_Mutation_p.P569S|DDR1_ENST00000508312.1_Missense_Mutation_p.P587S|DDR1_ENST00000452441.1_Missense_Mutation_p.P606S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	606					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P568S(1)|p.P606S(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGTGGATTTCCCTCGATCTCG	0.617000													32	38					0	0	0.002836	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450147	105450147	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:105450147C>T	ENST00000337685.2	+	5	1507	c.722C>T	c.(721-723)tCa>tTa	p.S241L	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S241L|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S241L	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	241										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACCTTTGTCACCTTTGTCA	0.428000													19	0					0	0	0.001216	0	0
AVEN	57099	broad.mit.edu	37	15	34168175	34168175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:34168175C>T	ENST00000306730.3	-	3	596	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	AVEN_ENST00000558136.1_5'UTR	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	156					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAGCAAACCGGAACTGTGA	0.408000													14	22					0	0	0.006122	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352395	70352395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:70352395C>T	ENST00000305107.6	-	4	1068	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G205E|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G341E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	341					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGTTTATTCCCATCAAATCT	0.348000													59	45					0	0	0.003610	0	0
OR2T6	254879	broad.mit.edu	37	1	248550993	248550993	+	Silent	SNP	C	C	T	rs61736237	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:248550993C>T	ENST00000355728.2	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTCTTTTTCGGTGTCATTT	0.438000													16	47					0	0	0.004007	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634966	70634966	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:70634966G>A	ENST00000381269.2	-	2	927	c.174C>T	c.(172-174)gtC>gtT	p.V58V	SLC8A3_ENST00000528359.1_Silent_p.V58V|SLC8A3_ENST00000357887.3_Silent_p.V58V|SLC8A3_ENST00000534137.1_Silent_p.V58V|SLC8A3_ENST00000356921.2_Silent_p.V58V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	58					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGGCAGGATGACACCCTCCT	0.547000													24	15					0	0	0.001061	0	0
UTRN	7402	broad.mit.edu	37	6	144780342	144780342	+	Silent	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:144780342C>A	ENST00000367545.3	+	20	2559	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	853	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCTTCACCCCAAAATTGAAA	0.507000													24	18					9.57634e-11	2.15645e-10	0.003330	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768106	31768106	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:31768106G>A	ENST00000240587.4	-	2	2920	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	865					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGCTGGAAGGAGTGGAGGAT	0.542000													18	66					0	0	0.000958	0	0
GRM3	2913	broad.mit.edu	37	7	86469140	86469140	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:86469140C>T	ENST00000361669.2	+	4	3409	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F642F|GRM3_ENST00000546348.1_Silent_p.F362F|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	770					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGCTAAGTTCATAGGTTTTA	0.423000													50	30					0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300682	103300682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:103300682C>T	ENST00000233969.2	+	5	1454	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	438						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGGAGGACTTCGAGGTGCCAT	0.438000													53	51					0	0	0.003610	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73144873	73144873	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:73144873C>T	ENST00000545377.1	+	13	1884	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R570C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R570C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R257C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R570C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R570C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R570C	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AGGAAAAACTCGTTTGGTGCG	0.343000													4	1					0	0	0.000602	0	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494282	142494282	+	RNA	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:142494282C>A	ENST00000390413.1	+	0	39																											AGGCTCTAGGCTGACCGTACT	0.657000													12	53					5.16669e-11	1.16924e-10	0.000978	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94643639	94643639	+	Silent	SNP	G	G	C	rs34014249		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:94643639G>C	ENST00000260526.6	-	21	2747	c.2565C>G	c.(2563-2565)ccC>ccG	p.P855P	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	855	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.P855P(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGCAGTTGTGGGCCTTGGCC	0.443000													56	16					0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346810	140346810	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140346810C>T	ENST00000289269.5	+	1	991	c.459C>T	c.(457-459)taC>taT	p.Y153Y	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		153	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAACTACCAGCTTCAGG	0.612000													17	30					0	0	0.000958	0	0
A2ML1	144568	broad.mit.edu	37	12	8998726	8998726	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:8998726G>A	ENST00000299698.7	+	14	1771	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.D40N	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	375						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTGGCCCCTGATCCTTCCCT	0.453000													59	46					0	0	0.003610	0	0
HMGB1	3146	broad.mit.edu	37	13	31036680	31036680	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:31036680C>T	ENST00000405805.1	-	4	1406	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	HMGB1_ENST00000326004.4_Missense_Mutation_p.E156K|HMGB1_ENST00000339872.4_Missense_Mutation_p.E156K|HMGB1_ENST00000399494.1_Missense_Mutation_p.E156K|HMGB1_ENST00000341423.5_Missense_Mutation_p.E156K|HMGB1_ENST00000399489.1_Missense_Mutation_p.E156K			P09429	HMGB1_HUMAN	high mobility group box 1	156			E -> Q.		base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CTTACCTTTTCATATTTTTCC	0.403000													6	84					0	0	0.001168	0	0
DNAH12	201625	broad.mit.edu	37	3	57509322	57509322	+	Missense_Mutation	SNP	C	C	T	rs34762664		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:57509322C>T	ENST00000351747.2	-	4	447	c.267G>A	c.(265-267)atG>atA	p.M89I	DNAH12_ENST00000389536.4_Missense_Mutation_p.M89I|DNAH12_ENST00000311202.6_Missense_Mutation_p.M89I	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	89	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTTTTTTTTTCATTTCACTGG	0.249000													25	3					0	0	0.002096	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137423	40137423	+	Silent	SNP	C	C	T	rs142752772	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:40137423C>T	ENST00000278198.2	-	2	2383	c.420G>A	c.(418-420)ccG>ccA	p.P140P	LRRC4C_ENST00000528697.1_Silent_p.P140P|LRRC4C_ENST00000527150.1_Silent_p.P140P|LRRC4C_ENST00000530763.1_Silent_p.P140P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis	integral to membrane	protein binding	p.P140P(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTCCATTCGGGATGGTAG	0.423000													13	40					0	0	0.001368	0	0
GPER1	2852	broad.mit.edu	37	7	1131810	1131810	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:1131810C>A	ENST00000397092.1	+	3	1330	c.446C>A	c.(445-447)aCc>aAc	p.T149N	GPER_ENST00000401670.1_Missense_Mutation_p.T149N|GPER_ENST00000297469.3_Missense_Mutation_p.T149N|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.T149N	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		149						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		TTCTTCCTCACCTGGATGAGC	0.612000													16	50					6.94344e-10	1.55971e-09	0.006122	1	0
ACOX3	8310	broad.mit.edu	37	4	8383290	8383290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:8383290C>T	ENST00000356406.5	-	14	1659	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ACOX3_ENST00000503233.1_Missense_Mutation_p.E528K|ACOX3_ENST00000413009.2_Missense_Mutation_p.E528K	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	528					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGATAAGTCTCTCGGAGCAGG	0.403000													40	26					0	0	0.001706	0	0
SVEP1	79987	broad.mit.edu	37	9	113238568	113238568	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:113238568C>T	ENST00000401783.2	-	14	2851	c.2515G>A	c.(2515-2517)Gac>Aac	p.D839N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D816N|SVEP1_ENST00000302728.8_Missense_Mutation_p.D839N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D816N|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	839					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGTCAATGTCCTCTGCATCA	0.373000													73	11					0	0	0.003610	0	0
OR6C4	341418	broad.mit.edu	37	12	55945095	55945095	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55945095C>T	ENST00000394256.2	+	1	113	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ATTCATCTTTCTGTTCCTCAC	0.428000													67	37					0	0	0.003610	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013358	142013358	+	RNA	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:142013358G>A	ENST00000390357.3	+	0	242																											ACAGCTATGAGAAACTCTCTA	0.463000													100	57					0	0	0.003610	0	0
ACBD6	84320	broad.mit.edu	37	1	180461443	180461443	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:180461443G>A	ENST00000367595.3	-	3	1032	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TAACTACTGCGATATATTCCT	0.358000													29	12					0	0	0.002836	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:55417934G>A	ENST00000594765.1	+	3	149	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000447255.1_Missense_Mutation_p.E42K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000													82	43					0	0	0.003610	0	0
TOE1	114034	broad.mit.edu	37	1	45807145	45807145	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:45807145G>A	ENST00000372090.5	+	4	820	c.236_splice	c.e4-1	p.Q79_splice	TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	79						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAACCCCAAGGTGCATTGAGG	0.582000													20	11					0	0	0.001882	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951551	119951551	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:119951551G>A	ENST00000307142.4	+	4	1817	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SYNPO2_ENST00000429713.2_Missense_Mutation_p.E541K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E541K|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	541						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAAAGGAGGAAGAGTCGGT	0.512000													42	17					0	0	0.001706	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052082	48052082	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:48052082C>T	ENST00000316364.5	+	2	526	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SEMA6D_ENST00000355997.3_Silent_p.P29P|SEMA6D_ENST00000358066.4_Silent_p.P29P|SEMA6D_ENST00000536845.2_Silent_p.P29P|SEMA6D_ENST00000537942.1_Silent_p.P29P|SEMA6D_ENST00000558816.1_Silent_p.P29P|SEMA6D_ENST00000389432.2_Silent_p.P29P|SEMA6D_ENST00000389433.2_Silent_p.P29P|SEMA6D_ENST00000389428.3_Silent_p.P29P|SEMA6D_ENST00000558014.1_Silent_p.P29P|SEMA6D_ENST00000389425.3_Silent_p.P29P|SEMA6D_ENST00000354744.4_Silent_p.P29P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	29	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATGAACCCCTTAATACTG	0.448000													25	49					0	0	0.001061	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801739	185801739	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:185801739G>A	ENST00000302277.6	+	4	2210	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	539						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAG	0.343000													21	26					0	0	0.001523	0	0
MPL	4352	broad.mit.edu	37	1	43818334	43818334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:43818334G>A	ENST00000372470.3	+	12	1841	c.1799G>A	c.(1798-1800)gGg>gAg	p.G600E		NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	600					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTTGCCTGGGGACCATGCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						14	37					0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	70954741	70954741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:70954741C>T	ENST00000393567.2	-	46	7688	c.7538G>A	c.(7537-7539)aGa>aAa	p.R2513K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2513										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				caggcgctctctctcccGGTC	0.711000													7	9					0	0	0.001984	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489905	123489905	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:123489905G>A	ENST00000280562.5	-	6	1039	c.834C>T	c.(832-834)gaC>gaT	p.D278D	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.D278D|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.D278D|PITPNM2_ENST00000546049.1_Silent_p.D278D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	278					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGAGGTCTGGTCCGAGACGG	0.617000													50	30					0	0	0.003610	0	0
GPR158	57512	broad.mit.edu	37	10	25886921	25886921	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:25886921G>A	ENST00000376351.3	+	11	2725	c.2366G>A	c.(2365-2367)aGg>aAg	p.R789K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	789						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCCTCATCAGGAAGAACCCC	0.547000													69	10					0	0	0.003610	0	0
NUP98	4928	broad.mit.edu	37	11	3797137	3797137	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:3797137G>A	ENST00000324932.7	-	5	890	c.470C>T	c.(469-471)cCt>cTt	p.P157L	NUP98_ENST00000397004.4_Missense_Mutation_p.P157L|NUP98_ENST00000397007.4_Missense_Mutation_p.P157L|NUP98_ENST00000359171.4_Missense_Mutation_p.P157L|NUP98_ENST00000355260.3_Missense_Mutation_p.P157L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	157	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTCCCAGTAGGAGCAGCTGT	0.398000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								79	59					0	0	0.003610	0	0
VPS54	51542	broad.mit.edu	37	2	64189210	64189210	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:64189210T>C	ENST00000354504.3	-	5	1230	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	VPS54_ENST00000409558.3_Missense_Mutation_p.Q319R|VPS54_ENST00000272322.4_Missense_Mutation_p.Q331R			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	331					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GTGAATGCCCTGAAGTTCCTG	0.358000													48	81					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:140995273C>T	ENST00000285879.4	+	4	2369	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)			46	9					0	0	0.002522	0	0
DNAH8	1769	broad.mit.edu	37	6	38738263	38738263	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:38738263G>A	ENST00000359357.3	+	10	1295	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	DNAH8_ENST00000449981.2_Silent_p.G564G|DNAH8_ENST00000441566.1_Silent_p.G347G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATCCTCAGGGGAAAAATCTT	0.343000													20	10					0	0	0.000958	0	0
RBAK	57786	broad.mit.edu	37	7	5104617	5104617	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:5104617C>T	ENST00000396912.1	+	5	2049	c.1530C>T	c.(1528-1530)ccC>ccT	p.P510P	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Silent_p.P510P	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	510	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAGAGAAACCCTATGAATGTA	0.403000													9	31					0	0	0.000443	0	0
PDE1B	5153	broad.mit.edu	37	12	54966496	54966496	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:54966496C>T	ENST00000243052.3	+	7	1142	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.H216Y|PDE1B_ENST00000538346.1_Missense_Mutation_p.H195Y	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	236	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCAGACAGTCCATTGCTTCTT	0.507000													147	98					0	0	0.003610	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383104	41383104	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:41383104G>A	ENST00000301146.4	-	7	1693	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	CYP2A7_ENST00000291764.3_Silent_p.F333F|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	384						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F384L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTTAGGGAGGAAAAAATCCC	0.527000													15	82					0	0	0.004007	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955882	35955882	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:35955882C>T	ENST00000274278.3	-	6	1517	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G353E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G387E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	387						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACTGGTAATCCCACCATGGG	0.507000													31	62					0	0	0.002836	0	0
USP21	27005	broad.mit.edu	37	1	161130921	161130921	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:161130921C>T	ENST00000368002.3	+	3	868	c.491C>T	c.(490-492)cCt>cTt	p.P164L	USP21_ENST00000368001.1_Missense_Mutation_p.P164L|USP21_ENST00000289865.8_Missense_Mutation_p.P164L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	164					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGGGCTTTCCTGGACCCCCT	0.627000													32	20					0	0	0.003271	0	0
RAB42	115273	broad.mit.edu	37	1	28920589	28920589	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:28920589C>T	ENST00000373826.3	+	2	584	c.278C>T	c.(277-279)tCc>tTc	p.S93F	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	93					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCCAGGTCCCCCAGCAGG	0.607000													5	32					0	0	0.001168	0	0
KDM5A	5927	broad.mit.edu	37	12	432368	432368	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:432368G>A	ENST00000399788.2	-	16	2517	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	KDM5A_ENST00000382815.4_Missense_Mutation_p.R719C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	719					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGGGTAGCGATATCTACaa	0.318000			T	NUP98	AML								6	23					0	0	0.001168	0	0
ATP9A	10079	broad.mit.edu	37	20	50286579	50286579	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:50286579G>A	ENST00000338821.5	-	13	1514	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ATP9A_ENST00000402822.1_Missense_Mutation_p.S296L|ATP9A_ENST00000311637.5_Missense_Mutation_p.S281L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	417					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCGTCCATTGAGTCGAGGCC	0.438000													52	73					0	0	0.003610	0	0
TCL6	27004	broad.mit.edu	37	14	96136873	96136873	+	RNA	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:96136873C>T	ENST00000467865.1	+	0	1983				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CTTCCTTCTCCTTCTTGGAGT	0.517000			T	TRA@	T-ALL								8	25					0	0	0.000443	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4703277C>T	ENST00000396950.3	-	2	904	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000													38	42					0	0	0.004878	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882228	7882228	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:7882228C>T	ENST00000542353.1	-	7	1096	c.606G>A	c.(604-606)caG>caA	p.Q202Q	CLEC4C_ENST00000360345.3_Silent_p.Q202Q|CLEC4C_ENST00000354629.5_Silent_p.Q171Q|CLEC4C_ENST00000540085.1_Silent_p.Q171Q	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	202	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAATTGACTTCTGAGGTACAT	0.393000													33	22					0	0	0.002096	0	0
RNF19B	127544	broad.mit.edu	37	1	33402703	33402703	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:33402703G>T	ENST00000373456.7	-	9	1902	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P634T	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	635						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGCAGGGGGGATCCTCTTCA	0.567000													28	115					3.80469e-20	8.69644e-20	0.001786	1	0
FIBIN	387758	broad.mit.edu	37	11	27016325	27016325	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:27016325C>T	ENST00000318627.2	+	1	698	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	84						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGGAGGAGTTCACCGTGCTGG	0.647000													9	17					0	0	0.004482	0	0
ZNF831	128611	broad.mit.edu	37	20	57767335	57767335	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:57767335G>A	ENST00000371030.2	+	1	1261	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	421						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGTGGACGATGCCCAGCT	0.672000													13	16					0	0	0.001368	0	0
RMND5A	64795	broad.mit.edu	37	2	86979038	86979038	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:86979038G>C	ENST00000283632.4	+	3	800	c.305G>C	c.(304-306)aGc>aCc	p.S102T		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	102										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGACATTAGCAGTGTGGGA	0.428000													14	19					0	0	0.003163	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413481	105413481	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:105413481G>A	ENST00000333244.5	-	7	8426	c.8307C>T	c.(8305-8307)gcC>gcT	p.A2769A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						nucleus				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)			TCACATCGGGGGCTGTCACTT	0.622000													128	72					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61935082	61935082	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:61935082C>T	ENST00000577390.1	-	3	1502		c.e3+1		CDH8_ENST00000584337.1_Splice_Site|CDH8_ENST00000299345.6_Splice_Site|CDH8_ENST00000577730.1_Splice_Site	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGCATACATACCCAAAATGGA	0.358000													15	24					0	0	0.000958	0	0
RGS6	9628	broad.mit.edu	37	14	72936746	72936746	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:72936746C>T	ENST00000553530.1	+	8	698	c.491C>T	c.(490-492)gCg>gTg	p.A164V	RGS6_ENST00000404301.2_Missense_Mutation_p.A164V|RGS6_ENST00000554782.1_Missense_Mutation_p.A25V|RGS6_ENST00000553525.1_Missense_Mutation_p.A164V|RGS6_ENST00000402788.2_Missense_Mutation_p.A164V|RGS6_ENST00000406236.4_Missense_Mutation_p.A164V|RGS6_ENST00000355512.6_Missense_Mutation_p.A164V|RGS6_ENST00000434263.2_Missense_Mutation_p.A95V|RGS6_ENST00000343854.6_Missense_Mutation_p.A164V|RGS6_ENST00000556437.1_Missense_Mutation_p.A164V|RGS6_ENST00000555571.1_Missense_Mutation_p.A164V|RGS6_ENST00000407322.4_Missense_Mutation_p.A164V|RGS6_ENST00000553690.1_3'UTR	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	164					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGGCCTTTGCGAGGAAGTGG	0.403000													6	46					0	0	0.001168	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478943	14478943	+	RNA	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:14478943C>T	ENST00000581457.1	-	0	965					NR_024076.1																						GCTGTAAATTCGTTACATTTA	0.363000													8	17					0	0	0.003080	0	0
NINL	22981	broad.mit.edu	37	20	25439082	25439082	+	Silent	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:25439082G>A	ENST00000278886.6	-	22	3853	c.3780C>T	c.(3778-3780)gcC>gcT	p.A1260A	NINL_ENST00000422516.1_Silent_p.A911A|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1260					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GATGCAGCTCGGCCACACGGT	0.672000													35	28					0	0	0.002836	0	0
STRIP2	57464	broad.mit.edu	37	7	129098202	129098202	+	Silent	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:129098202C>T	ENST00000249344.2	+	10	1225	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	STRIP2_ENST00000435494.2_Silent_p.D395D	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TAGAGCAGGACCCTCTGGTGC	0.597000													16	13					0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	89924572	89924572	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:89924572G>A	ENST00000405460.2	+	8	1528	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	478	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGATCTTCCAGAAGAGGCAGA	0.453000													37	37					0	0	0.004289	0	0
GALNT5	11227	broad.mit.edu	37	2	158115636	158115636	+	Missense_Mutation	SNP	C	C	T	rs144689586		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:158115636C>T	ENST00000259056.4	+	1	1527	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	348					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P348S(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AACAATATTTCCTAAAGTATT	0.393000													40	40					0	0	0.001706	0	0
TOE1	114034	broad.mit.edu	37	1	45807144	45807144	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:45807144G>A	ENST00000372090.5	+	4	819		c.e4-1		TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_Splice_Site	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)							nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CCAACCCCAAGGTGCATTGAG	0.587000													20	11					0	0	0.002299	0	0
FAM196A	642938	broad.mit.edu	37	10	128973855	128973855	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:128973855C>T	ENST00000522781.1	-	4	1360	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	FAM196A_ENST00000424811.2_Missense_Mutation_p.G269S|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	269										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGACAAACCAGGCTCGGGG	0.647000													7	35					0	0	0.003080	0	0
ANAPC7	51434	broad.mit.edu	37	12	110841400	110841400	+	Silent	SNP	C	C	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:110841400C>G	ENST00000455511.3	-	1	135	c.135G>C	c.(133-135)gcG>gcC	p.A45A	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Silent_p.A45A	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GCCCCGCGGCCGCCATGTCCC	0.602000													6	15					0	0	0.001984	0	0
MED12L	116931	broad.mit.edu	37	3	151129185	151129185	+	Silent	SNP	A	A	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:151129185A>T	ENST00000474524.1	+	39	5963	c.5925A>T	c.(5923-5925)gcA>gcT	p.A1975A	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCCGGCCGCACATTCCAACC	0.577000													105	6					0	0	0.003610	0	0
KRT20	54474	broad.mit.edu	37	17	39036510	39036510	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:39036510C>T	ENST00000167588.3	-	4	675	c.634G>A	c.(634-636)Gtc>Atc	p.V212I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	212	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGGCCATCGACTTCCTATGAA	0.443000													13	83					0	0	0.002450	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761165	121761165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:121761165G>A	ENST00000261367.7	+	7	2690	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	SNCAIP_ENST00000503116.2_Missense_Mutation_p.G421E|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G374E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G421E|SNCAIP_ENST00000504884.2_Silent_p.G83G|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	374					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTTTGATGGGAGAAGACTGC	0.493000													32	51					0	0	0.003755	0	0
LOC399815	399815	broad.mit.edu	37	10	124654324	124654325	+	RNA	INS	-	-	GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	rs144762615	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	ENST00000425266.1	+	0	291																											TCTCCCTTCTTGTTACTAGTTT	0.386													2	4	---	---	---	---					
HNRNPUL2	221092	broad.mit.edu	37	11	62491837	62491838	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:62491837_62491838insC	ENST00000301785.5	-	2	791_792	c.599_600insG	c.(598-600)gaafs	p.E200fs	RP11-831H9.16_ENST00000403734.2_Frame_Shift_Ins_p.E200fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCTCTTTACCCCCCGCCG	0.495													9	158	---	---	---	---					
HNRNPUL2	221092	broad.mit.edu	37	11	62491838	62491839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:62491838_62491839insC	ENST00000301785.5	-	2	790_791	c.598_599insG	c.(598-600)aaafs	p.K200fs	RP11-831H9.16_ENST00000403734.2_Frame_Shift_Ins_p.K200fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTCTCTTTACCCCCCGCCGC	0.500													21	148	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535677	119535678	+	In_Frame_Ins	INS	-	-	CCT	rs137909701	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:119535677_119535678insCCT	ENST00000264025.3	-	6	1863_1864	c.1333_1334insAGG	c.(1333-1335)cgg>AGGcgg	p.445_445R>RR	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	445	Poly-Gly.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTCCACCGCcctcctcctcc	0.658													10	45	---	---	---	---					
ATF7IP	55729	broad.mit.edu	37	12	14577971	14577973	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:14577971_14577973delTAT	ENST00000544627.1	+	2	1466_1468	c.1146_1148delTAT	c.(1144-1149)gat>ga	p.DI382del	ATF7IP_ENST00000540793.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000536444.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000543189.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000261168.4_In_Frame_Del_p.DI374del|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	374	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAGAGGAAGATATTATCACAGAG	0.350													27	91	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													10	206	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76755055	76755055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:76755055delC	ENST00000537592.2	+	2	3064	c.3064delC	c.(3064-3066)agfs	p.Q1022fs	SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TAATTTAAAACAGCACTTACT	0.522													37	27	---	---	---	---					
C20orf27	54976	broad.mit.edu	37	20	3735139	3735139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:3735139delG	ENST00000379772.3	-	5	1139	c.329delC	c.(328-330)ggfs	p.A110fs	C20orf27_ENST00000217195.8_Frame_Shift_Del_p.A135fs	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	110										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CTCTTTGTGCGCCGAGTACTC	0.642													19	63	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													8	56	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													7	40	---	---	---	---					
