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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CARS	833	broad.mit.edu	37	11	3041490	3041490	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:3041490G>A	uc001lxf.3	-	10	1310	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	CARS_uc010qxo.2_Missense_Mutation_p.S409F|CARS_uc001lxe.3_Missense_Mutation_p.S316F|CARS_uc001lxg.3_Missense_Mutation_p.S326F|CARS_uc001lxh.3_Missense_Mutation_p.S326F|CARS_uc010qxp.2_Missense_Mutation_p.S339F	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	326					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TCCGGGCTTAGAGGCCTTCCA	0.627000			T	ALK	ALCL									75			5		0	0	0.001984	0	0
OR9A4	130075	broad.mit.edu	37	7	141619422	141619422	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:141619422G>A	uc003vwu.1	+	0	747	c.747G>A	c.(745-747)gtG>gtA	p.V249V		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTGTGTTGTGATTGGCTACG	0.502000														66			8		0	0	0.003080	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964610	39964610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:39964610G>A	uc002olo.4	+	25	2679	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	SUPT5H_uc002olp.4_Missense_Mutation_p.E834K|SUPT5H_uc002olq.4_Missense_Mutation_p.E830K|SUPT5H_uc002oln.4_Missense_Mutation_p.E834K|SUPT5H_uc002olr.4_Missense_Mutation_p.E834K|SUPT5H_uc002ols.1_Missense_Mutation_p.E457K	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	834					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGGCTGAGGAAGAATATGA	0.562000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			5		0	0	0.001984	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000														42			4		0	0	0.009096	0	0
HRNR	388697	broad.mit.edu	37	1	152192203	152192203	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152192203G>A	uc001ezt.1	-	2	1978	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	634					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCGTGGCTGGAAGACTGAC	0.577000														336			12		0	0	0.016723	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431534	117431534	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:117431534G>A	uc003vjf.3	-	3	1808	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	572										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTGTTCGAGGCCCTGCTGC	0.507000														98			5		0	0	0.014758	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174698	150174698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:150174698C>T	uc003whj.3	+	4	2158	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	610						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGGCCAGGCCCAGGAAACCCA	0.458000														122			5		0	0	0.021553	0	0
ZAN	7455	broad.mit.edu	37	7	100344181	100344181	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:100344181G>A	uc003uwj.3	+	7	952	c.787G>A	c.(787-789)Gac>Aac	p.D263N	ZAN_uc003uwk.3_Missense_Mutation_p.D263N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	263	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGCTCCTGGACCCCAAGAA	0.587000														58			5		0	0	0.014758	0	0
OR6A2	8590	broad.mit.edu	37	11	6816292	6816292	+	Silent	SNP	G	A	A	rs77689755		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:6816292G>A	uc001mes.1	-	0	848	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P215Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTGACAGAGAGTGGCCCTA	0.502000														109			5		0	0	0.014758	0	0
ARID5B	84159	broad.mit.edu	37	10	63851616	63851616	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:63851616C>A	uc001jlt.2	+	9	2850	c.2394C>A	c.(2392-2394)gaC>gaA	p.D798E	ARID5B_uc001jlu.2_Missense_Mutation_p.D555E	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	798					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCTTGCTGACTCCTACGTCC	0.498000														133			6		2.0095e-06	2.0847e-06	0.001984	1	0
CLIC2	1193	broad.mit.edu	37	X	154507273	154507273	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:154507273G>A	uc004fnf.3	-	5	913	c.663C>T	c.(661-663)gcC>gcT	p.A221A		NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	221	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTCTTCACGGGCATAGGCAT	0.408000														42			7		0	0	0.003080	0	0
C1orf168	199920	broad.mit.edu	37	1	57216843	57216843	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:57216843G>A	uc001cym.4	-	8	1667	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	421								p.Q421L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTGGTCATCTGAATTTTTTCA	0.458000														48			9		0	0	0.004482	0	0
HNF4G	3174	broad.mit.edu	37	8	76465357	76465357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:76465357G>A	uc003yaq.3	+	5	699	c.429G>A	c.(427-429)atG>atA	p.M143I	HNF4G_uc003yar.3_Missense_Mutation_p.M180I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	143					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGAATCTATGAAACAGCAGC	0.368000														60			4		0	0	0.009096	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						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						GCCCTCATTTCGTCACAGGAG	0.463000														106			5		0	0	0.021553	0	0
MC5R	4161	broad.mit.edu	37	18	13826253	13826253	+	Silent	SNP	C	T	T	rs141625505		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr18:13826253C>T	uc010xaf.2	+	0	711	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	163					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GGGCCATCATCGCCGGCATCT	0.567000														257			10		0	0	0.008291	0	0
TAF1	6872	broad.mit.edu	37	X	70598118	70598118	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:70598118T>C	uc004dzu.4	+	6	1015	c.964T>C	c.(964-966)Tcc>Ccc	p.S322P	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S343P	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	322	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCAAATTTTCCCAATCAAC	0.463000														27			3		0	0	0.004672	0	0
XKR3	150165	broad.mit.edu	37	22	17288877	17288877	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:17288877G>A	uc002zlv.3	-	1	185	c.87C>T	c.(85-87)ctC>ctT	p.L29L	XKR3_uc011agf.2_Silent_p.L29L	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	29						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCTTAGATGGAGTCTCTGGC	0.408000														76			5		0	0	0.014758	0	0
TBX20	57057	broad.mit.edu	37	7	35242110	35242110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:35242110G>A	uc011kas.2	-	7	1756	c.1276C>T	c.(1276-1278)Cag>Tag	p.Q426*		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	426						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCCCCTGCTGAAAATAGTGA	0.517000														5			3		0	0	0.004672	0	0
OR56A4	120793	broad.mit.edu	37	11	6023370	6023370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:6023370G>A	uc010qzv.2	-	0	1009	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGGAATGAGGTGGTGCAGG	0.498000														58			4		0	0	0.009096	0	0
GRK7	131890	broad.mit.edu	37	3	141535611	141535611	+	Missense_Mutation	SNP	C	T	T	rs36004830		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:141535611C>T	uc011bnd.2	+	3	1465	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	461	AGC-kinase C-terminal.		R -> C (in dbSNP:rs36004830).		visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAACTTTCCTCGCCTGGAAGC	0.443000														107			6		0	0	0.021553	0	0
CELA2A	63036	broad.mit.edu	37	1	15789236	15789236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:15789236G>A	uc001awk.3	+	3	262	c.236G>A	c.(235-237)aGg>aAg	p.R79K		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617000														92			6		0	0	0.001984	0	0
ESRRG	2104	broad.mit.edu	37	1	216680424	216680424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:216680424G>A	uc001hkw.2	-	6	1407	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	ESRRG_uc009xdp.1_Missense_Mutation_p.R389C|ESRRG_uc001hky.1_Missense_Mutation_p.R389C|ESRRG_uc001hkz.2_Missense_Mutation_p.R350C|ESRRG_uc010puc.2_Missense_Mutation_p.R389C|ESRRG_uc001hla.2_Missense_Mutation_p.R389C|ESRRG_uc001hlb.2_Missense_Mutation_p.R389C|ESRRG_uc010pud.2_Missense_Mutation_p.R227C|ESRRG_uc021pja.1_Missense_Mutation_p.R161C|ESRRG_uc001hlc.1_Missense_Mutation_p.R389C|ESRRG_uc001hld.1_Missense_Mutation_p.R389C|ESRRG_uc001hkx.2_Missense_Mutation_p.R424C|ESRRG_uc009xdo.2_Missense_Mutation_p.R389C|ESRRG_uc001hle.2_Missense_Mutation_p.R389C|ESRRG_uc021piz.1_Missense_Mutation_p.R389C	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	412					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAGCTCGACGAGGGTCTTCC	0.512000														76			5		0	0	0.014758	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878833	131878833	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:131878833G>A	uc003vra.4	-	13	3073	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	948	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAAGTAATAGAGCTGTGAGG	0.582000														51			4		0	0	0.014758	0	0
NOD2	64127	broad.mit.edu	37	16	50759472	50759472	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:50759472G>A	uc002egm.1	+	9	3060	c.2955G>A	c.(2953-2955)ttG>ttA	p.L985L	NOD2_uc010vgq.1_Silent_p.L30L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	985					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATTCAAGTTTGAAAATCCTGA	0.463000														101			5		0	0	0.014758	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262319	61262319	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr18:61262319C>T	uc010xep.2	+	6	867	c.699C>T	c.(697-699)ttC>ttT	p.F233F	SERPINB13_uc002ljc.3_Silent_p.F224F|SERPINB13_uc002ljd.3_Silent_p.F88F|SERPINB13_uc010xeq.2_Silent_p.F45F|SERPINB13_uc010xer.2_Silent_p.F45F	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	224					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCTTCACTTTCCTGGAGGACT	0.433000														60			4		0	0	0.021553	0	0
FLG	2312	broad.mit.edu	37	1	152284324	152284324	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152284324G>A	uc001ezu.1	-	2	3074	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1013	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACCAGAGGAAGTCTCTGC	0.587000									Ichthyosis					393			10		0	0	0.008291	0	0
TNR	7143	broad.mit.edu	37	1	175365770	175365770	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:175365770C>T	uc001gkp.1	-	2	1231	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	TNR_uc009wwu.1_Missense_Mutation_p.E384K|TNR_uc010pmz.1_Missense_Mutation_p.G349E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	384	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCTCCAGCTCCGTGATGGTG	0.597000														46			4		0	0	0.009096	0	0
ODZ2	57451	broad.mit.edu	37	5	167630770	167630770	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:167630770C>T	uc010jjd.3	+	17	3480	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	ODZ2_uc003lzr.4_Silent_p.F937F|ODZ2_uc003lzt.4_Silent_p.F533F|ODZ2_uc010jje.3_Silent_p.F431F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.F1002F(1)|p.F1169F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTCAGGGATTCGAGCTGGACC	0.498000														124			7		0	0	0.003080	0	0
JDP2	122953	broad.mit.edu	37	14	75904779	75904779	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:75904779C>T	uc001xrq.3	+	1	382	c.189C>T	c.(187-189)ttC>ttT	p.F63F	JDP2_uc010asj.3_Silent_p.F52F|JDP2_uc010tvb.2_Silent_p.F52F|JDP2_uc010tvc.2_Silent_p.F52F	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	52						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		CCTTGCACTTCCTGGAGGTGA	0.607000														19			3		0	0	0.004672	0	0
VWA3A	146177	broad.mit.edu	37	16	22166930	22166930	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:22166930C>G	uc010vbq.2	+	31	3544	c.3448C>G	c.(3448-3450)Ctg>Gtg	p.L1150V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.L228V|VWA3A_uc010bxe.1_Missense_Mutation_p.L252V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1150						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTTAAGGATCCTGGCCCAGGA	0.512000														137			5		0	0	0.014758	0	0
PKHD1	5314	broad.mit.edu	37	6	51774190	51774190	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:51774190G>A	uc003pah.1	-	39	6849	c.6573C>T	c.(6571-6573)tcC>tcT	p.S2191S	PKHD1_uc010jzn.1_Silent_p.S216S|PKHD1_uc003pai.3_Silent_p.S2191S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2191					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTGGGAAGGACTGAACGA	0.498000														198			8		0	0	0.003080	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972708	203972708	+	Silent	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:203972708A>G	uc002uzt.3	+	12	1992	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	553							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGACTCGAGCAATCCTGACAA	0.463000														532			14		0	0	0.028581	0	0
NLRP5	126206	broad.mit.edu	37	19	56539771	56539771	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:56539771C>T	uc002qmj.3	+	6	2172	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	NLRP5_uc002qmi.3_Silent_p.S705S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	724						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TAGCATCTTCCTTCTGCCTCC	0.488000														180			9		0	0	0.008291	0	0
ENTPD2	954	broad.mit.edu	37	9	139945549	139945549	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:139945549C>T	uc004ckw.2	-	4	633	c.579G>A	c.(577-579)cgG>cgA	p.R193R	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.R193R	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	193						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTCCCCTTCCGTGGCCGGA	0.677000														56			5		0	0	0.001984	0	0
ATG7	10533	broad.mit.edu	37	3	11406184	11406184	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:11406184C>T	uc003bwc.3	+	15	1968	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	ATG7_uc003bwd.3_Silent_p.T617T|ATG7_uc011aum.2_Silent_p.T578T	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	617					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGCCTCCAACCTCTCTTGGGC	0.488000														123			7		0	0	0.001984	0	0
WDR47	22911	broad.mit.edu	37	1	109524385	109524385	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:109524385G>A	uc001dwl.3	-	12	2768	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	WDR47_uc001dwi.3_Missense_Mutation_p.R791C|WDR47_uc001dwj.3_Missense_Mutation_p.R790C|WDR47_uc010ovf.2_Missense_Mutation_p.R715C	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	790										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAACAACACGAACACAACTT	0.373000														253			8		0	0	0.004482	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339128	79339128	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:79339128G>A	uc002beq.3	-	4	1213	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	RASGRF1_uc002bep.3_Missense_Mutation_p.P280S|RASGRF1_uc010blm.1_Missense_Mutation_p.P202S|RASGRF1_uc002ber.4_Missense_Mutation_p.P280S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	280	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTGTGATGGGAGGCTTCTTG	0.592000														137			12		0	0	0.016723	0	0
EFHC1	114327	broad.mit.edu	37	6	52317573	52317573	+	Missense_Mutation	SNP	C	T	T	rs139197513		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:52317573C>T	uc003pap.4	+	3	876	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	EFHC1_uc011dwv.1_Missense_Mutation_p.R130C|EFHC1_uc011dww.2_Missense_Mutation_p.R202C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	221			R -> H (in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E).			axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGCCTCTTCGTAAGTATGT	0.383000														88			6		0	0	0.021553	0	0
PRSS35	167681	broad.mit.edu	37	6	84234001	84234001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:84234001G>A	uc003pjz.3	+	1	1081	c.841G>A	c.(841-843)Gag>Aag	p.E281K	PRSS35_uc010kbm.3_Missense_Mutation_p.E281K|PRSS35_uc021zce.1_Missense_Mutation_p.E281K	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	281	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGCTCTTCTGGAGCTGAAGCG	0.493000														57			4		0	0	0.009096	0	0
CTRC	11330	broad.mit.edu	37	1	15770006	15770006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:15770006C>T	uc001awi.1	+	4	472	c.449C>T	c.(448-450)cCc>cTc	p.P150L	CTRC_uc001awj.1_Missense_Mutation_p.P150L	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	150	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.P150R(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCTCCCCAAGGACTAC	0.582000														159			7		0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124380767	124380767	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:124380767G>A	uc001lgk.1	+	40	5198	c.5092G>A	c.(5092-5094)Ggc>Agc	p.G1698S	DMBT1_uc001lgl.1_Missense_Mutation_p.G1688S|DMBT1_uc001lgm.1_Missense_Mutation_p.G1070S|DMBT1_uc021qaf.1_Missense_Mutation_p.G1698S|DMBT1_uc021qag.1_Missense_Mutation_p.G1688S|DMBT1_uc021qah.1_Missense_Mutation_p.G1070S|DMBT1_uc009xzz.1_Missense_Mutation_p.G1698S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G401S|DMBT1_uc009yac.1_Missense_Mutation_p.G12S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1698	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTTTGGCCAGGGCTCAGGACC	0.612000														219			9		0	0	0.006214	0	0
FGD5	152273	broad.mit.edu	37	3	14862924	14862924	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:14862924G>A	uc003bzc.3	+	0	2456	c.2346G>A	c.(2344-2346)tcG>tcA	p.S782S	FGD5_uc011avk.2_Silent_p.S782S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	782					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCATGAACTCGGACTATGAGA	0.582000														220			8		0	0	0.004482	0	0
DICER1	23405	broad.mit.edu	37	14	95584028	95584028	+	Silent	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:95584028A>G	uc001ydw.2	-	9	1652	c.1440T>C	c.(1438-1440)acT>acC	p.T480T	DICER1_uc021sbc.1_Silent_p.T480T|DICER1_uc001ydv.2_Silent_p.T470T|DICER1_uc001ydx.2_Silent_p.T480T	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	480	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCATGTCCAGTTATGAAAT	0.368000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					53			6		0	0	0.001984	0	0
CYTIP	9595	broad.mit.edu	37	2	158272435	158272435	+	Silent	SNP	C	T	T	rs141179083	byFrequency	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:158272435C>T	uc002tzj.1	-	7	906	c.834G>A	c.(832-834)acG>acA	p.T278T	CYTIP_uc010zcl.1_Silent_p.T172T	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATCTGTACTCGTCTGCCGAC	0.542000														72			6		0	0	0.001984	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:55890037C>T	uc001nii.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000														258			8		0	0	0.006214	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458975	19458975	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:19458975G>A	uc002gvx.3	+	7	797	c.711G>A	c.(709-711)ggG>ggA	p.G237G	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.G237G|SLC47A1_uc010vyz.1_Silent_p.G214G|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_5'UTR|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	237						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACATCCTCGGGAAAAAACTGC	0.507000														67			6		0	0	0.003080	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866242	131866242	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:131866242G>A	uc003vra.4	-	17	3619	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1130	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTTGTTGAGGATGAGCAGGG	0.592000														129			6		0	0	0.003080	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087225	39087225	+	Missense_Mutation	SNP	C	T	T	rs143219969		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr21:39087225C>T	uc011aej.1	-	2	288	c.235G>A	c.(235-237)Gat>Aat	p.D79N	KCNJ6_uc002ywo.2_Missense_Mutation_p.D79N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	79					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D79N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTGAAGATATCGGTCAGGTAG	0.463000														106			6		0	0	0.003080	0	0
HEATR8	374977	broad.mit.edu	37	1	55119589	55119589	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:55119589C>T	uc010ooe.1	+	2	1314	c.990C>T	c.(988-990)atC>atT	p.I330I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.I330I|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.I330I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	330	Ser-rich.					integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGACTCTAATCCTGGGTTCCA	0.557000														90			5		0	0	0.014758	0	0
PUM1	9698	broad.mit.edu	37	1	31406064	31406064	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:31406064G>A	uc001bsi.1	-	21	3668	c.3555C>T	c.(3553-3555)atC>atT	p.I1185I	PUM1_uc001bsf.1_Silent_p.I853I|PUM1_uc001bsh.1_Silent_p.I1187I|PUM1_uc001bsj.1_Silent_p.I1161I|PUM1_uc010oga.1_Silent_p.I1043I|PUM1_uc001bsk.1_Silent_p.I1223I|PUM1_uc010ogb.1_Silent_p.I1126I	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1185					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCTCAGATGATACCATTAG	0.522000														127			6		0	0	0.001984	0	0
MEP1A	4224	broad.mit.edu	37	6	46797217	46797217	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:46797217G>A	uc011dwh.1	+	8	1145	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	MEP1A_uc010jzh.1_Silent_p.T351T|MEP1A_uc011dwg.1_Silent_p.T73T|MEP1A_uc011dwi.1_Silent_p.T251T	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	351	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATAAAATGACGGGAAGTCCTT	0.517000														158			9		0	0	0.004482	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466783	50466783	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr13:50466783C>G	uc001vdk.2	+	0	2239	c.2057C>G	c.(2056-2058)aCt>aGt	p.T686S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AGTGAAGCAACTGGCCCTGGC	0.473000														82			4		0	0	0.004482	0	0
OR10K2	391107	broad.mit.edu	37	1	158389802	158389802	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:158389802G>A	uc010pii.2	-	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCATTGGGTTGAACAATGGAG	0.358000														66			6		0	0	0.001984	0	0
LAMA4	3910	broad.mit.edu	37	6	112522853	112522853	+	Silent	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:112522853A>G	uc003pvu.2	-	4	768	c.459T>C	c.(457-459)gtT>gtC	p.V153V	LAMA4_uc003pvv.2_Silent_p.V153V|LAMA4_uc003pvt.2_Silent_p.V153V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	153	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATGCACCGAACAGCTCCAT	0.363000														340			10		0	0	0.008291	0	0
TRPM2	7226	broad.mit.edu	37	21	45825905	45825905	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr21:45825905C>T	uc010gpt.1	+	17	2875	c.2775C>T	c.(2773-2775)atC>atT	p.I925I	TRPM2_uc002zet.1_Silent_p.I925I|TRPM2_uc002zeu.1_Silent_p.I925I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I925I|TRPM2_uc002zex.1_Silent_p.I711I|TRPM2_uc002zey.1_Silent_p.I438I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	925						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAAGATCATCATTGTGAAGC	0.642000														175			9		0	0	0.006214	0	0
KCNK9	51305	broad.mit.edu	37	8	140630831	140630831	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:140630831G>A	uc003yvf.1	-	1	859	c.795C>T	c.(793-795)gcC>gcT	p.A265A	KCNK9_uc003yvg.1_Silent_p.A265A|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	265						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A265T(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGCGGTTTCCGGCGAGGGATG	0.627000														65			6		0	0	0.021553	0	0
F7	2155	broad.mit.edu	37	13	113770093	113770093	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr13:113770093G>A	uc001vsv.3	+	5	601	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	F7_uc010agp.1_Missense_Mutation_p.G177R|F7_uc001vsw.3_Missense_Mutation_p.G162R|F7_uc010tjt.2_Missense_Mutation_p.G115R	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	184	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCTGGCAGACGGGGTGTCCTG	0.597000														31			3		0	0	0.009096	0	0
CPOX	1371	broad.mit.edu	37	3	98304426	98304426	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:98304426G>A	uc003dsx.3	-	4	1138	c.1031C>T	c.(1030-1032)tCt>tTt	p.S344F		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	344						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTGGACGGAGAGTCAAGATC	0.483000														122			8		0	0	0.003080	0	0
GNAT2	2780	broad.mit.edu	37	1	110146621	110146621	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:110146621C>T	uc001dya.3	-	6	1039	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	276					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.E276K(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTGATTTTTTCCTCAAAGAGG	0.393000														53			6		0	0	0.021553	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875708	42875708	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:42875708C>T	uc001chi.2	+	3	673	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	179	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATCTGCCATCTGATCCGCCA	0.507000														117			13		0	0	0.028581	0	0
ANK3	288	broad.mit.edu	37	10	61815462	61815462	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:61815462C>T	uc001jky.3	-	41	13357	c.13019G>A	c.(13018-13020)aGg>aAg	p.R4340K	ANK3_uc001jkw.3_Missense_Mutation_p.R964K|ANK3_uc009xpa.3_Missense_Mutation_p.R964K|ANK3_uc001jkx.3_Missense_Mutation_p.R1008K|ANK3_uc010qih.2_Missense_Mutation_p.R1831K|ANK3_uc001jkz.4_Missense_Mutation_p.R1824K|ANK3_uc001jkv.3_Missense_Mutation_p.R363K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4340					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGCTAAGCCTTGGCTTGCC	0.468000														221			10		0	0	0.010729	0	0
FLRT2	23768	broad.mit.edu	37	14	86088459	86088459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:86088459C>T	uc021rxf.1	+	0	601	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	FLRT2_uc001xvr.3_Nonsense_Mutation_p.Q201*|FLRT2_uc010atd.3_Nonsense_Mutation_p.Q201*	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	201					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGGCCTTCCAGAATCTCAC	0.522000														98			5		0	0	0.014758	0	0
STON2	85439	broad.mit.edu	37	14	81744382	81744382	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:81744382G>A	uc010tvu.2	-	3	1471	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	STON2_uc001xvk.1_Missense_Mutation_p.R425C|STON2_uc010tvt.2_Missense_Mutation_p.R222C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	425					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACCCGTCACGAGGCTGGGAC	0.532000														118			5		0	0	0.014758	0	0
LPA	4018	broad.mit.edu	37	6	161012037	161012037	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:161012037C>T	uc003qtl.3	-	23	3846	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3750	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GACATTGTGTCAGGTTGCAGT	0.507000														46			5		0	0	0.014758	0	0
OR1L1	26737	broad.mit.edu	37	9	125424061	125424061	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:125424061G>A	uc022bmz.1	+	0	67	c.67G>A	c.(67-69)Gat>Aat	p.D23N		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K23R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCGACCTGAGGATCAGAAGCC	0.478000														49			4		0	0	0.009096	0	0
SUN5	140732	broad.mit.edu	37	20	31583443	31583443	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:31583443C>T	uc002wyi.3	-	7	609	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	172					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						ACATGGCTTCCATCTCCTGGA	0.493000														214			7		0	0	0.003080	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797112	49797112	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:49797112G>A	uc002pmz.3	-	8	1824	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	SLC6A16_uc002pna.3_Silent_p.F530F	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	530						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTTTCCTGAAGAAAGAGAAGG	0.498000														197			10		0	0	0.010729	0	0
USP2	9099	broad.mit.edu	37	11	119243689	119243689	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:119243689G>A	uc001pwm.4	-	1	797	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	168	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ATGGGGCTGCGGCCCAGGTTC	0.632000														98			5		0	0	0.021553	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48216840	48216840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:48216840G>A	uc002iqh.4	-	6	1952	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	656	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GTCCACAGGGGACAGTGCATC	0.617000														178			7		0	0	0.004482	0	0
EGFL6	25975	broad.mit.edu	37	X	13624618	13624618	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:13624618G>A	uc004cvj.3	+	5	928	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R214Q|EGFL6_uc011mik.1_Missense_Mutation_p.R115Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	214					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						ATCAGTGGACGATATGACTGT	0.403000														55			6		0	0	0.001984	0	0
RIMBP2	23504	broad.mit.edu	37	12	130883694	130883694	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:130883694G>A	uc001uil.2	-	18	3361	c.3145C>T	c.(3145-3147)Cat>Tat	p.H1049Y		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	1049						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTGTGAAATGAACACTCTTC	0.333000														107			5		0	0	0.021553	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														30			3		0	0	0.004672	0	0
USP54	159195	broad.mit.edu	37	10	75289450	75289450	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:75289450G>A	uc001juo.3	-	12	2065	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S683L|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.S683L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	683					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTAGACATTTGAGCTCTCAGG	0.527000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		182			14		0	0	0.020292	0	0
ABCC8	6833	broad.mit.edu	37	11	17485033	17485033	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:17485033G>A	uc001mnc.3	-	3	657	c.531C>T	c.(529-531)atC>atT	p.I177I	ABCC8_uc010rcy.1_Silent_p.I177I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	177					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.V176V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCCATAGAGGATCACCAGCA	0.597000														422			14		0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152284513	152284513	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152284513C>T	uc001ezu.1	-	2	2885	c.2849G>A	c.(2848-2850)aGt>aAt	p.S950N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	950	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGTCCTGGCT	0.562000									Ichthyosis					274			8		0	0	0.006214	0	0
CDK19	23097	broad.mit.edu	37	6	110942464	110942465	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:110942464_110942465CC>AT	uc003puh.1	-	11	1292_1293	c.1219_1220GG>AT	c.(1219-1221)ggg>ATg	p.G407M	CDK19_uc003pui.1_Missense_Mutation_p.G347M|CDK19_uc011eax.1_Missense_Mutation_p.G283M	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	407							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ACCTGCGGTCCCGTTGGTCTGG	0.678000														92			9		0	0	0.004672	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346014	11346014	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:11346014C>T	uc001asg.3	+	1	1177	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	281					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGCACCATCAGCCTGGCAC	0.572000														140			7		0	0	0.003080	0	0
TULP2	7288	broad.mit.edu	37	19	49388786	49388786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:49388786C>T	uc002pkz.2	-	8	1131	c.980G>A	c.(979-981)aGg>aAg	p.R327K		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	327					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGTTTTGCTCCTTCTTCTCTT	0.512000														57			7		0	0	0.001984	0	0
FLNB	2317	broad.mit.edu	37	3	58084612	58084612	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:58084612C>T	uc003djj.2	+	7	1487	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	FLNB_uc010hne.2_Missense_Mutation_p.P441L|FLNB_uc003djk.2_Missense_Mutation_p.P441L|FLNB_uc010hnf.2_Missense_Mutation_p.P441L|FLNB_uc003djl.2_Missense_Mutation_p.P272L|FLNB_uc003djm.2_Missense_Mutation_p.P272L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	441					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTAAGAGTCCCTTCGTTGTG	0.547000														86			5		0	0	0.014758	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40450601	40450601	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:40450601C>T	uc004det.3	+	2	386	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Missense_Mutation_p.S19L|ATP6AP2_uc011mkm.2_Missense_Mutation_p.S95L|ATP6AP2_uc011mkn.2_Missense_Mutation_p.S95L	NM_005765	NP_005756	O75787	RENR_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA.	95					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	p.S95A(1)		endometrium(1)|large_intestine(1)|lung(2)	4						AGTGTCATTTCGTACCCTTTG	0.428000														23			5		0	0	0.014758	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605862	84605862	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:84605862G>A	uc004amn.3	+	3	524	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	159						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TGTCCCCTTTGGCTTCTTCGG	0.567000														48			5		0	0	0.021553	0	0
OR10R2	343406	broad.mit.edu	37	1	158449784	158449784	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:158449784C>T	uc010pik.2	+	0	117	c.117C>T	c.(115-117)agC>agT	p.S39S	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S38F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTTTTTCCAGCCTTGGTGAAA	0.418000														97			7		0	0	0.001984	0	0
DIDO1	11083	broad.mit.edu	37	20	61513451	61513451	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:61513451G>A	uc002ydr.2	-	15	4169	c.3857C>T	c.(3856-3858)cCa>cTa	p.P1286L	DIDO1_uc002yds.2_Missense_Mutation_p.P1286L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1286	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTGTGGCTGGGCTGGGGGC	0.642000														88			8		0	0	0.008291	0	0
DMC1	11144	broad.mit.edu	37	22	38917728	38917729	+	Splice_Site	DNP	AG	TA	TA			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:38917728_38917729AG>TA	uc003avz.1	-	13	1012	c.837_splice	c.e13-1	p.T279_splice	DMC1_uc011anv.1_Splice_Site_p.T224_splice	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	279					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TCTGCCTGAAAGCTGAATTAAT	0.411000								Homologous recombination						80			8		0	0	0.004672	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256046	15256046	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:15256046G>A	uc001iob.3	-	7	1548	c.1541C>T	c.(1540-1542)aCc>aTc	p.T514I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	514						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCCTGAATGGTGAGTTTGCT	0.512000														148			7		0	0	0.001984	0	0
HAO2	51179	broad.mit.edu	37	1	119936434	119936434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:119936434C>T	uc001ehr.1	+	7	1159	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	HAO2_uc001ehq.1_Nonsense_Mutation_p.R343*	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	343	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGAGATCAATCGAAACTTGGT	0.478000														125			5		0	0	0.014758	0	0
ASMT	438	broad.mit.edu	37	X	1742160	1742160	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:1742160C>T	uc004cqd.3	+	2	414	c.198C>T	c.(196-198)atC>atT	p.I66I	ASMT_uc010ncy.3_Silent_p.I66I|ASMT_uc004cqe.3_Silent_p.I66I	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	66					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTGGACATCTGTGTGTCCC	0.612000														41			5		0	0	0.014758	0	0
OR9A4	130075	broad.mit.edu	37	7	141618723	141618723	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:141618723C>T	uc003vwu.1	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCCTTGGCTTCCCTGGCTCTG	0.378000														147			8		0	0	0.004482	0	0
QRICH1	54870	broad.mit.edu	37	3	49095126	49095126	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:49095126G>A	uc010hkq.3	-	3	803	c.507C>T	c.(505-507)atC>atT	p.I169I	QRICH1_uc003cvu.3_Silent_p.I169I|QRICH1_uc003cvv.3_Silent_p.I169I|QRICH1_uc021wxr.1_Silent_p.I106I	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	169	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCTGCACCTGGATCTGAGCTG	0.622000														111			6		0	0	0.021553	0	0
SUN5	140732	broad.mit.edu	37	20	31571702	31571702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:31571702C>T	uc002wyi.3	-	12	1131	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	346	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGGTTCCCCCAGTTGCTTG	0.597000														117			10		0	0	0.008291	0	0
OR8U8	504189	broad.mit.edu	37	11	56143558	56143558	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:56143558C>T	uc001nit.2	+	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GCTATAGCTTCCTAATGGCAC	0.438000														114			7		0	0	0.003080	0	0
MKI67	4288	broad.mit.edu	37	10	129906972	129906972	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:129906972G>A	uc001lke.3	-	12	3327	c.3132C>T	c.(3130-3132)ttC>ttT	p.F1044F	MKI67_uc001lkf.3_Silent_p.F684F|MKI67_uc009yav.1_Silent_p.F619F|MKI67_uc009yaw.1_Silent_p.F194F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1044	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACGTCCGTGTGAACTTGCCGA	0.522000														296			10		0	0	0.010729	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005585	118005585	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:118005585C>T	uc003ibv.4	-	0	1152	c.965G>A	c.(964-966)aGg>aAg	p.R322K		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	322	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTCTACCCACCTCTGAAGCCA	0.413000														139			6		0	0	0.003080	0	0
OR52I1	390037	broad.mit.edu	37	11	4615434	4615434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:4615434G>A	uc010qyi.2	+	0	166	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATCTGGATGGATTCCACTCG	0.502000														134			7		0	0	0.001984	0	0
ACACA	31	broad.mit.edu	37	17	35601576	35601576	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:35601576G>A	uc002hnm.3	-	20	2750	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ACACA_uc002hnk.3_Silent_p.F775F|ACACA_uc002hnl.3_Silent_p.F795F|ACACA_uc002hnn.3_Silent_p.F853F|ACACA_uc002hno.3_Silent_p.F890F|ACACA_uc010cuz.3_Silent_p.F853F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	853					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACATAATGGAACACTCGAT	0.488000														78			6		0	0	0.021553	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:5282926G>A	uc010zqw.2	-	1	923	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)				58			5		0	0	0.014758	0	0
KCNH5	27133	broad.mit.edu	37	14	63174717	63174717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:63174717C>T	uc001xfx.3	-	10	2527	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	826					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGTCTTCCTTTTTCTCC	0.433000														91			8		0	0	0.004482	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155950	39155950	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:39155950G>A	uc002hvs.3	-	0	189	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA.	52	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				GGCAGGGTGGGGGACAGTTGT	0.617000														63			4		0	0	0.014758	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163851	150163851	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:150163851G>A	uc003whj.3	+	1	395	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	22						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G22G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCCGCTCGGGAAAAAGTGCC	0.527000														49			4		0	0	0.009096	0	0
OR1L8	138881	broad.mit.edu	37	9	125330478	125330478	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:125330478G>A	uc004bmp.1	-	0	279	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCATAGGAGATGGTCTTCT	0.463000														78			8		0	0	0.003080	0	0
TCRVA15	0	broad.mit.edu	37	14	22205027	22205027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:22205027G>A	uc001wbp.2	+	1	140	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GGACTCATATGAAGGACAAGA	0.443000														81			7		0	0	0.003080	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778018	31778018	+	Missense_Mutation	SNP	C	T	T	rs139052456		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:31778018C>T	uc003nxh.3	-	1	1915	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	HSPA1L_uc010jte.3_Missense_Mutation_p.E578K|HSPA1L_uc021yuz.1_Missense_Mutation_p.E578K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	578					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAAGGAGCTCGTTGCATTTA	0.383000														713			23		0	0	0.016522	0	0
STK31	56164	broad.mit.edu	37	7	23793998	23793998	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:23793998G>A	uc003sws.4	+	9	1265	c.1198G>A	c.(1198-1200)Ggg>Agg	p.G400R	STK31_uc003swt.4_Missense_Mutation_p.G377R|STK31_uc011jze.2_Missense_Mutation_p.G400R|STK31_uc010kuq.3_Missense_Mutation_p.G377R	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	400							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTTGGATGAAGGGTGCTTTAC	0.373000														83			6		0	0	0.001984	0	0
ODZ1	10178	broad.mit.edu	37	X	123805562	123805562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:123805562C>T	uc010nqy.3	-	5	1203	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	ODZ1_uc011muj.2_Missense_Mutation_p.G379E|ODZ1_uc004euj.3_Missense_Mutation_p.G380E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	380					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGAAACTTTTCCTCCAATTGG	0.403000														61			4		0	0	0.009096	0	0
PMEL	6490	broad.mit.edu	37	12	56349077	56349077	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:56349077G>A	uc001sir.3	-	9	2494	c.1831C>T	c.(1831-1833)Ctt>Ttt	p.L611F	PMEL_uc001siq.3_Missense_Mutation_p.L618F|PMEL_uc010spx.2_Missense_Mutation_p.L525F|PMEL_uc001sip.3_Missense_Mutation_p.L611F	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	611					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGATGCAAGGACCACAGCC	0.512000														148			6		0	0	0.004482	0	0
GPR126	57211	broad.mit.edu	37	6	142711423	142711423	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:142711423G>A	uc010khe.3	+	6	1662	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	GPR126_uc010khc.3_Silent_p.V417V|GPR126_uc010khd.3_Silent_p.V389V|GPR126_uc010khf.3_Silent_p.V389V	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	417					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TATCCGTAGTGATTCAGAACA	0.308000														78			5		0	0	0.001984	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703701	187703701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:187703701G>A	uc002upu.1	-	3	519	c.479C>T	c.(478-480)cCt>cTt	p.P160L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	160					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAAGGTGACAGGAAGCTTTTT	0.308000														152			7		0	0	0.001984	0	0
FAM5B	57795	broad.mit.edu	37	1	177247706	177247706	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:177247706C>T	uc001glf.3	+	6	1332	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	FAM5B_uc010pna.1_Silent_p.F90F|FAM5B_uc001glg.3_Silent_p.F235F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	340						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGAAGAGTTCCAGGCCCTGC	0.587000														203			7		0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152949425	152949425	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:152949425G>A	uc021zhb.1	-	0	265	c.42C>T	c.(40-42)atC>atT	p.I14I	SYNE1_uc003qot.4_Silent_p.I14I|SYNE1_uc003qou.4_Silent_p.I14I|SYNE1_uc010kjb.1_Silent_p.I14I|SYNE1_uc003qpa.1_Silent_p.I14I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	14	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACATTGGCGATATCCCGAG	0.502000										HNSCC(10;0.0054)				131			8		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862744	9862744	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:9862744G>A	uc010uym.2	-	12	2869	c.2559C>T	c.(2557-2559)tgC>tgT	p.C853C	GRIN2A_uc002czo.4_Silent_p.C853C|GRIN2A_uc010uyn.2_Silent_p.C696C|GRIN2A_uc002czr.4_Silent_p.C853C	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	853					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCGGTCGGAGCACACGCCCG	0.557000														114			6		0	0	0.001984	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936426	54936426	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:54936426G>A	uc001sgc.4	+	30	3420	c.3341G>A	c.(3340-3342)cGa>cAa	p.R1114Q	NCKAP1L_uc010sox.2_Missense_Mutation_p.R656Q|NCKAP1L_uc010soy.2_Missense_Mutation_p.R1064Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1114					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.R1114Q(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTGCTTCGAAATGCCTAT	0.537000														117			9		0	0	0.008291	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684589	108684589	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:108684589C>T	uc022cch.1	-	5	1777	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.A564A	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	564	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.A564A(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTCATAAATCGCTATGTTGG	0.403000														90			6		0	0	0.021553	0	0
HOXB1	3211	broad.mit.edu	37	17	46607131	46607131	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:46607131C>T	uc002ink.1	-	1	690	c.684G>A	c.(682-684)ctG>ctA	p.L228L	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	228						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCCGGCTCAGGTACTTGT	0.572000														200			8		0	0	0.003080	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054691	67054691	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:67054691C>T	uc003dmy.3	+	2	1353	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	434										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATGGAATTTCATAATGCTGT	0.413000														114			7		0	0	0.001984	0	0
RELN	5649	broad.mit.edu	37	7	103163959	103163959	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:103163959G>A	uc022ajr.1	-	46	7529	c.7369C>T	c.(7369-7371)Cgt>Tgt	p.R2457C	RELN_uc022ajq.1_Missense_Mutation_p.R2457C|RELN_uc010liz.3_Missense_Mutation_p.R2457C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2457					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGATGCCAACGGAAACGAGTG	0.453000														66			4		0	0	0.014758	0	0
TRANK1	9881	broad.mit.edu	37	3	36898710	36898710	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:36898710C>T	uc003cgj.3	-	11	2619	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	791					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTCGATCTCCCAGGTCATG	0.493000														249			12		0	0	0.013537	0	0
ZNF616	90317	broad.mit.edu	37	19	52619219	52619219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:52619219G>A	uc002pym.3	-	3	1481	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGAATTCGTCGATGCACTGCA	0.418000														117			9		0	0	0.004482	0	0
THSD7B	80731	broad.mit.edu	37	2	137814587	137814587	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:137814587G>A	uc002tva.1	+	1	644	c.644G>A	c.(643-645)gGa>gAa	p.G215E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.G105E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G214C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTAAGGTTGGACCATGGAGT	0.428000														159			6		0	0	0.021553	0	0
THADA	63892	broad.mit.edu	37	2	43520263	43520263	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:43520263G>A	uc002rsw.4	-	31	4880	c.4528C>T	c.(4528-4530)Cca>Tca	p.P1510S	THADA_uc010far.3_Missense_Mutation_p.P705S|THADA_uc002rsx.4_Missense_Mutation_p.P1510S|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1510							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGCAGGCCTGGCACCTTGAAG	0.572000														525			16		0	0	0.007413	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719940	140719940	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:140719940G>A	uc003ljk.2	+	0	1587	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.G468R	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	470	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCCCAGAGGAGCCTCTGT	0.557000														83			5		0	0	0.014758	0	0
GALNTL2	117248	broad.mit.edu	37	3	16237390	16237390	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:16237390C>T	uc003car.4	+	1	1138	c.663C>T	c.(661-663)gcC>gcT	p.A221A	GALNTL2_uc003caq.4_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	221	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						TGCCCAGGGCCTTCCTGAAGG	0.617000														38			4		0	0	0.009096	0	0
PRDM16	63976	broad.mit.edu	37	1	3328862	3328862	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:3328862G>A	uc001akf.3	+	8	2183	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	PRDM16_uc001ake.3_Missense_Mutation_p.E701K|PRDM16_uc009vlh.3_Missense_Mutation_p.E402K|PRDM16_uc001akc.3_Missense_Mutation_p.E701K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	701	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCCATTGCCGAGAAGTACTT	0.622000			T	EVI1	"""MDS, AML"""									81			6		0	0	0.001984	0	0
ZNF287	57336	broad.mit.edu	37	17	16470880	16470880	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:16470880G>A	uc021trd.1	-	1	784	c.166C>T	c.(166-168)Cca>Tca	p.P56S	ZNF287_uc002gqi.2_Missense_Mutation_p.P56S	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGGGTATGGAAAATTCCTA	0.458000														72			5		0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13793818	13793818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:13793818C>T	uc003jfd.2	-	48	8072	c.8030G>A	c.(8029-8031)cGa>cAa	p.R2677Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2677	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCAGCTGTCGCACTATCTC	0.438000									Kartagener syndrome					84			5		0	0	0.014758	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559584	46559584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr13:46559584G>A	uc010tfw.1	-	8	1574	c.1568C>T	c.(1567-1569)cCa>cTa	p.P523L	ZC3H13_uc001vas.1_Missense_Mutation_p.P523L|ZC3H13_uc001vat.1_Missense_Mutation_p.P523L	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	523	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGATTCTTCTGGATATGTATC	0.463000														84			5		0	0	0.021553	0	0
CCR4	1233	broad.mit.edu	37	3	32995532	32995532	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:32995532C>T	uc003cfg.1	+	1	786	c.618C>T	c.(616-618)atC>atT	p.I206I	CCR4_uc021wuw.1_Silent_p.I206I	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	206					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CCCTGGAAATCAACATTCTCG	0.453000														135			7		0	0	0.003080	0	0
DOT1L	84444	broad.mit.edu	37	19	2180750	2180750	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:2180750C>T	uc002lvb.4	+	1	156	c.120C>T	c.(118-120)acC>acT	p.T40T		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	40						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCGAGACCATCCGGTGAG	0.562000														44			4		0	0	0.014758	0	0
CDC20	991	broad.mit.edu	37	1	43825722	43825722	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:43825722C>T	uc001cix.3	+	4	611	c.510C>T	c.(508-510)tcC>tcT	p.S170S	CDC20_uc001ciy.3_Silent_p.S170S	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	170					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACATTCCTTCCCTGCCAGACC	0.532000														199			9		0	0	0.016723	0	0
GLRB	2743	broad.mit.edu	37	4	158060056	158060056	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:158060056G>A	uc003ipj.2	+	6	908	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GLRB_uc021xtp.1_Missense_Mutation_p.E236K|GLRB_uc021xtq.1_Missense_Mutation_p.E236K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	236					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATCAAAAAGGAAGATATTGA	0.299000														69			5		0	0	0.001984	0	0
DBC1	1620	broad.mit.edu	37	9	121929525	121929525	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:121929525G>A	uc004bkc.2	-	7	2579	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	708					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCCACAGGAGGGGCCAGGCG	0.562000														100			5		0	0	0.014758	0	0
ATP9A	10079	broad.mit.edu	37	20	50342430	50342430	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:50342430G>A	uc002xwg.1	-	2	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	ATP9A_uc010gih.1_Silent_p.F70F	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	85					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						CAAGAAGTAAGAAATAGAGGT	0.438000														61			6		0	0	0.001984	0	0
ZIM3	114026	broad.mit.edu	37	19	57648268	57648268	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:57648268C>T	uc002qnz.1	-	3	600	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCACTTCCTCTTCCTCCAAC	0.522000														87			5		0	0	0.014758	0	0
STK31	56164	broad.mit.edu	37	7	23808714	23808714	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:23808714G>A	uc003sws.4	+	11	1584	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	STK31_uc003swt.4_Missense_Mutation_p.R483K|STK31_uc011jze.2_Missense_Mutation_p.R506K|STK31_uc010kuq.3_Missense_Mutation_p.R483K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	506							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTGATAAAAGAGAGGAGTTC	0.403000														83			6		0	0	0.001984	0	0
FCHSD2	9873	broad.mit.edu	37	11	72600874	72600875	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:72600874_72600875CC>TT	uc009ytl.3	-	11	1262	c.1041_splice	c.e11+1	p.R347_splice	FCHSD2_uc010rrg.2_Splice_Site_p.R211_splice|FCHSD2_uc001oth.4_Splice_Site_p.R291_splice|FCHSD2_uc001oti.2_Splice_Site_p.R306_splice	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	347							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTACACTTACCCGTTGTTGGTG	0.396000														376			11		0	0	0.004672	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922021	78922021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:78922021C>T	uc002bed.1	-	4	738	c.626G>A	c.(625-627)aGa>aAa	p.R209K	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R27K	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	209					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CACTGTCCTTCTCCCTGGGAG	0.542000														117			5		0	0	0.021553	0	0
C12orf63	374467	broad.mit.edu	37	12	97158976	97158976	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:97158976C>T	uc021rcc.1	+	26	3614	c.3536C>T	c.(3535-3537)tCg>tTg	p.S1179L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1179										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTTTTGTCTTCGTATACAGAT	0.289000														50			4		0	0	0.009096	0	0
PDE1A	5136	broad.mit.edu	37	2	183070702	183070702	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:183070702C>T	uc002uos.3	-	8	999	c.915G>A	c.(913-915)atG>atA	p.M305I	PDE1A_uc010zfp.1_Missense_Mutation_p.M201I|PDE1A_uc002uoq.1_Missense_Mutation_p.M305I|PDE1A_uc010zfq.1_Missense_Mutation_p.M305I|PDE1A_uc002uor.3_Missense_Mutation_p.M289I|PDE1A_uc002uou.3_Missense_Mutation_p.M271I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	305	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M305I(3)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCAAGATATTCATTTCTTCTT	0.343000														23			4		0	0	0.009096	0	0
LAMA2	3908	broad.mit.edu	37	6	129636797	129636797	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:129636797G>A	uc021zfb.1	+	24	3837	c.3732G>A	c.(3730-3732)aaG>aaA	p.K1244K	LAMA2_uc003qbn.3_Silent_p.K1244K|LAMA2_uc003qbo.3_Silent_p.K1244K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1244	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAAAGAAGGTAAGCA	0.343000														54			4		0	0	0.009096	0	0
ABL2	27	broad.mit.edu	37	1	179078028	179078028	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:179078028G>A	uc001gmj.4	-	11	2661	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	ABL2_uc010pnf.2_Missense_Mutation_p.P689S|ABL2_uc010png.2_Missense_Mutation_p.P668S|ABL2_uc010pnh.2_Missense_Mutation_p.P771S|ABL2_uc001gmg.4_Missense_Mutation_p.P674S|ABL2_uc001gmi.4_Missense_Mutation_p.P777S|ABL2_uc010pne.2_Missense_Mutation_p.P653S	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	792	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D791fs*43(2)|p.D791G(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTGCTCTGGAAGCCCTGAG	0.517000			T	ETV6	AML									111			16		0	0	0.004990	0	0
ACE	1636	broad.mit.edu	37	17	61560517	61560517	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:61560517C>T	uc002jau.2	+	8	1504	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Silent_p.F307F|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	490	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTACAACTTCGACTGGTGGT	0.617000														196			12		0	0	0.020292	0	0
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:59911184G>A	uc002age.3	+	2	1196	c.747G>A	c.(745-747)agG>agA	p.R249R	GCNT3_uc002agd.3_Silent_p.R249R|GCNT3_uc021smz.1_Silent_p.R249R	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	249					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAATGGGAGGAATAGCATGG	0.458000														146			7		0	0	0.003080	0	0
OR52B2	255725	broad.mit.edu	37	11	6190586	6190586	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:6190586C>T	uc010qzy.2	-	1	972	c.972_splice	c.e1+1	p.*324_splice		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	0					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)		CATGAAGATTCATGAGCCCAG	0.468000														69			6		0	0	0.021553	0	0
PRSS37	136242	broad.mit.edu	37	7	141537835	141537835	+	Silent	SNP	G	A	A	rs149011966		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:141537835G>A	uc003vws.2	-	2	627	c.255C>T	c.(253-255)atC>atT	p.I85I	PRSS37_uc011krl.2_Silent_p.I85I|PRSS37_uc011krk.2_Silent_p.I72I|PRSS37_uc003vwt.2_Silent_p.I42I	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I85I(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGTAGCGGACGATCTGAATGG	0.507000														165			11		0	0	0.020292	0	0
SYT11	23208	broad.mit.edu	37	1	155851155	155851155	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:155851155C>T	uc001fmg.3	+	3	1445	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SYT11_uc010pgq.2_Silent_p.F77F	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	384	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TTATCGACTTCGATCGCACCA	0.537000														270			16		0	0	0.024245	0	0
KLK12	43849	broad.mit.edu	37	19	51534106	51534106	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:51534106G>A	uc002pvh.1	-	4	646	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK12_uc002pvg.1_Missense_Mutation_p.P177S|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Missense_Mutation_p.P67S|KLK12_uc010ycr.1_Missense_Mutation_p.P67S|KLK12_uc010ycs.1_Missense_Mutation_p.S90F|KLK12_uc002pvi.1_Missense_Mutation_p.P177S|KLK12_uc002pvj.1_Missense_Mutation_p.S90F	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	177	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ATTCTCCCGGGATACACACCA	0.627000														154			7		0	0	0.006214	0	0
KCNA10	3744	broad.mit.edu	37	1	111059896	111059896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:111059896G>A	uc001dzt.1	-	0	1902	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	505						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTCTCTGTGGAACAGCCACC	0.478000														92			6		0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56369305	56369305	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:56369305C>T	uc002qmd.4	+	2	968	c.546C>T	c.(544-546)ttC>ttT	p.F182F	NLRP4_uc002qmf.3_Silent_p.F107F|NLRP4_uc010etf.3_Silent_p.F13F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	182	NACHT.						ATP binding	p.F182L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGATAGGTTCCTGTACACGT	0.502000														123			9		0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13928224	13928224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:13928224C>T	uc003jfd.2	-	2	298	c.256G>A	c.(256-258)Gat>Aat	p.D86N	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	86	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCACATCTTGATAGTAA	0.363000									Kartagener syndrome					51			4		0	0	0.014758	0	0
OR2B11	127623	broad.mit.edu	37	1	247614447	247614447	+	Missense_Mutation	SNP	G	A	A	rs113868131		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:247614447G>A	uc010pyx.2	-	0	838	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAATAGAAGAGAGAAATAAAT	0.493000														155			8		0	0	0.004482	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185107	127185107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:127185107G>A	uc004eum.3	-	0	1276	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	360						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAAGTCTGCCGAGGTGACCCA	0.463000														93			10		0	0	0.010729	0	0
CPB1	1360	broad.mit.edu	37	3	148563342	148563342	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:148563342C>T	uc003ewl.3	+	8	933	c.910C>T	c.(910-912)Cac>Tac	p.H304Y		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	304					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTGACAATCCACTCGTACTC	0.448000														70			7		0	0	0.001984	0	0
EEF2K	29904	broad.mit.edu	37	16	22269896	22269896	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:22269896C>T	uc002dki.3	+	9	1596	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	371					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GAGCCGGCCACCCCTGCTCCG	0.557000														83			6		0	0	0.021553	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39482342	39482342	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:39482342T>G	uc021wpr.1	+	5	1087	c.794T>G	c.(793-795)gTg>gGg	p.V265G	APOBEC3F_uc003awx.3_Missense_Mutation_p.V265G|APOBEC3F_uc003awy.3_Missense_Mutation_p.V198G	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	265					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TTCCTGGACGTGATTCCCTTT	0.498000														84			5		0	0	0.021553	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038819	14038819	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:14038819C>T	uc002mxo.2	+	22	2729	c.2430C>T	c.(2428-2430)gaC>gaT	p.D810D	CC2D1A_uc002mxp.2_Silent_p.D810D|CC2D1A_uc010dzh.2_Silent_p.D379D	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	810					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCATTGACCCTGTGCCGG	0.657000														117			5		0	0	0.014758	0	0
C6orf201	404220	broad.mit.edu	37	6	4099407	4099407	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:4099407C>T	uc003mwa.4	+	2	1027	c.259C>T	c.(259-261)Cct>Tct	p.P87S	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.P87S|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	87										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CACGAAAGAGCCTCCAATGTC	0.413000														29			4		0	0	0.021553	0	0
VN1R5	317705	broad.mit.edu	37	1	247419559	247419559	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:247419559C>T	uc010pyu.2	+	1	183	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	62					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CAAACACCATCCTTCTTCTTT	0.373000														171			8		0	0	0.003080	0	0
SV2B	9899	broad.mit.edu	37	15	91835678	91835678	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:91835678G>A	uc002bqv.3	+	13	2839	c.1948G>A	c.(1948-1950)Ggg>Agg	p.G650R	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G499R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	650					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCTTTTGTTGGGATAACCAA	0.498000														616			39		0	0	0.009718	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724435	38724435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:38724435C>T	uc001wum.1	-	0	1140	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	265	EGF-like.					integral to membrane	sugar binding	p.D265E(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCCCAAGTCGTCTAGGCAG	0.642000														128			9		0	0	0.008291	0	0
GBF1	8729	broad.mit.edu	37	10	104120832	104120832	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:104120832C>T	uc001kux.2	+	12	1737	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	GBF1_uc001kuy.2_Silent_p.F481F|GBF1_uc001kuz.2_Silent_p.F482F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	481					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GAGTATGCTTCCTACTGTTTG	0.428000														108			8		0	0	0.004482	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581193	234581193	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:234581193G>A	uc002vus.3	+	0	650	c.613G>A	c.(613-615)Gag>Aag	p.E205K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E205K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	208					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACTTTCAAGGAGAGAGTACG	0.438000														223			7		0	0	0.003080	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389542	19389542	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:19389542G>A	uc022btq.1	-	22	3215	c.3215C>T	c.(3214-3216)tCa>tTa	p.S1072L	MAP3K15_uc004czj.2_Missense_Mutation_p.S507L|MAP3K15_uc004czk.2_Missense_Mutation_p.S547L|MAP3K15_uc004czi.2_Missense_Mutation_p.S6L	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1072							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.S547*(1)|p.S1119*(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTTGAGCTTTGATATTGTGGT	0.527000														45			5		0	0	0.021553	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458308	120458308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:120458308G>A	uc001eik.3	-	33	7334	c.7037C>T	c.(7036-7038)gCc>gTc	p.A2346V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2346					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAAACGGGCCATTTCTGG	0.627000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					523			20		0	0	0.010504	0	0
NOTCH2	4853	broad.mit.edu	37	1	120469125	120469125	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:120469125G>A	uc001eik.3	-	23	4299	c.4002C>T	c.(4000-4002)ccC>ccT	p.P1334P		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1334	EGF-like 34.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTACCGGGGGACAACGGC	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					235			7		0	0	0.001984	0	0
C1orf111	284680	broad.mit.edu	37	1	162344380	162344380	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:162344380C>T	uc001gbx.2	-	2	308	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	82								p.G82R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGCTTCTCTCCGTGCTGGGTA	0.572000														121			5		0	0	0.014758	0	0
MFSD6	54842	broad.mit.edu	37	2	191301840	191301840	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:191301840C>T	uc002urz.2	+	2	1409	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	362					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGGTGTAAGCCCCCCGAGTAC	0.572000														32			4		0	0	0.009096	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791310	15791310	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:15791310A>G	uc002nbl.3	+	4	625	c.506A>G	c.(505-507)aAg>aGg	p.K169R	CYP4F12_uc010xoo.2_Missense_Mutation_p.K169R|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATCTTCAACAAGAGTGCAAAC	0.527000														50			5		0	0	0.014758	0	0
COL14A1	7373	broad.mit.edu	37	8	121381652	121381652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:121381652C>T	uc003yox.3	+	46	5504	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	COL14A1_uc003yoz.3_Missense_Mutation_p.P712S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1747	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1747S(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTGGGGGTTCCTGGACCCCA	0.597000														75			7		0	0	0.001984	0	0
GH1	2688	broad.mit.edu	37	17	61995475	61995475	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:61995475C>T	uc002jdj.3	-	2	255	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	GH1_uc002jdi.3_Intron|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.E65K	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	65					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TACTTCTGTTCCTTTGGGATA	0.512000														173			7		0	0	0.003080	0	0
ZNF180	7733	broad.mit.edu	37	19	44980972	44980972	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:44980972G>A	uc002ozf.4	-	4	2008	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	ZNF180_uc002ozh.4_Missense_Mutation_p.P233S|ZNF180_uc002ozi.4_Missense_Mutation_p.P549S|ZNF180_uc002ozg.4_Missense_Mutation_p.P575S|ZNF180_uc010ejm.3_Missense_Mutation_p.P551S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P576L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCATACGGTTTTTCCCCA	0.408000														68			6		0	0	0.021553	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184029	14184029	+	Silent	SNP	T	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr18:14184029T>C	uc010xag.2	+	2	718	c.420T>C	c.(418-420)gcT>gcC	p.A140A	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_Missense_Mutation_p.L19P					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						TCCATTATGCTGTGTATAGTG	0.438000														190			6		0	0	0.004482	0	0
C7orf62	219557	broad.mit.edu	37	7	88424246	88424246	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:88424246G>A	uc003ujv.3	-	1	193	c.11C>T	c.(10-12)tCg>tTg	p.S4L	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.S4L	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	4										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTTATGGACCGAAAAGGACAT	0.418000														99			6		0	0	0.021553	0	0
C3	718	broad.mit.edu	37	19	6696669	6696669	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:6696669G>A	uc002mfm.3	-	22	2859	c.2797_splice	c.e22-1	p.P933_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	933					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATTCCTTCCGGCTACGCAGT	0.572000														172			7		0	0	0.003080	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92663826	92663826	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:92663826A>G	uc002bqx.2	+	4	1342	c.1141A>G	c.(1141-1143)Aac>Gac	p.N381D	SLCO3A1_uc002bqy.2_Missense_Mutation_p.N381D|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.N323D	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	381					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.F380C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCAGCAGTTTAACCTCACCAC	0.562000														198			8		0	0	0.003080	0	0
DCLK3	85443	broad.mit.edu	37	3	36779592	36779592	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:36779592G>A	uc003cgi.2	-	1	1050	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	187						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTGCCTCGGGAGACCTCCTG	0.592000														80			5		0	0	0.014758	0	0
MDN1	23195	broad.mit.edu	37	6	90372576	90372576	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:90372576C>T	uc003pnn.1	-	85	14463	c.14347G>A	c.(14347-14349)Gat>Aat	p.D4783N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4783			D -> E (in dbSNP:rs36040566).		protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		tcctcctcatcATCATCACCC	0.458000														133			7		0	0	0.001984	0	0
C15orf2	23742	broad.mit.edu	37	15	24924106	24924106	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:24924106C>T	uc001ywo.3	+	0	3566	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1031					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCCCAGTTCCACATCAGGA	0.547000														44			5		0	0	0.014758	0	0
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:76023417G>A	uc010kbe.3	-	5	2670	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.3_Missense_Mutation_p.R612W|FILIP1_uc003pia.3_Missense_Mutation_p.R711W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000														178			9		0	0	0.006214	0	0
RFX7	64864	broad.mit.edu	37	15	56386321	56386321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:56386321G>A	uc010bfn.3	-	8	3605	c.3605C>T	c.(3604-3606)cCa>cTa	p.P1202L	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P1016L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1105					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAACTTCTGGGGTAACTGG	0.458000														137			5		0	0	0.014758	0	0
P4HB	5034	broad.mit.edu	37	17	79804386	79804386	+	Silent	SNP	G	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:79804386G>C	uc002kbn.1	-	6	1172	c.975C>G	c.(973-975)acC>acG	p.T325T	P4HB_uc002kbl.1_Silent_p.T2T|P4HB_uc002kbm.1_Silent_p.T2T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	325					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCTTGTACTTGGTCATCTCCT	0.612000														87			5		0	0	0.014758	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182874684	182874684	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:182874684C>T	uc001gpu.3	-	6	1568	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G309E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G286E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G148E	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	500										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTGATATTCTCCTGGAAAAAT	0.353000														44			4		0	0	0.009096	0	0
MDM4	4194	broad.mit.edu	37	1	204518492	204518492	+	Silent	SNP	T	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:204518492T>A	uc001hba.3	+	10	1321	c.1155T>A	c.(1153-1155)ctT>ctA	p.L385L	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Silent_p.L258L|MDM4_uc001hay.2_Silent_p.L335L|MDM4_uc021phx.1_Silent_p.L59L|MDM4_uc001hbb.3_Silent_p.L258L|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	385					G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACTCCAAACTTTTTGATCCCT	0.413000			A		"""GBM, bladder, retinoblastoma"""									93			5		0	0	0.021553	0	0
PDHA2	5161	broad.mit.edu	37	4	96761738	96761738	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:96761738G>A	uc003htr.4	+	0	500	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	146					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G146E(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGTGCTAAAGGAAAAGGAGGA	0.532000														60			4		0	0	0.009096	0	0
KRT1	3848	broad.mit.edu	37	12	53070226	53070226	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:53070226G>A	uc001sau.1	-	6	1367	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	KRT1_uc001sav.1_Silent_p.A436A	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	436	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CATCCTTGAGGGCATTCTCGC	0.542000														46			4		0	0	0.009096	0	0
APAF1	317	broad.mit.edu	37	12	99060130	99060130	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:99060130C>T	uc001tfz.3	+	8	1934	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	APAF1_uc001tfy.3_Missense_Mutation_p.L442F|APAF1_uc001tga.3_Missense_Mutation_p.L442F|APAF1_uc001tgb.3_Missense_Mutation_p.L453F|APAF1_uc001tgc.3_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	453					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGCAGCCAGCTTCAGGTACT	0.294000														67			5		0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32029231	32029231	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:32029231G>A	uc003nzl.2	-	20	7637	c.7435C>T	c.(7435-7437)Ctg>Ttg	p.L2479L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2539	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGCCATACAGGTGCATCTTG	0.672000														383			16		0	0	0.004990	0	0
CHRM5	1133	broad.mit.edu	37	15	34356204	34356204	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:34356204G>A	uc001zhk.1	+	2	1956	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	CHRM5_uc001zhl.1_Missense_Mutation_p.R429Q|CHRM5_uc021sir.1_Missense_Mutation_p.R429Q	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	429					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ATGACCAAACGAAAGAGAGTG	0.522000														53			6		0	0	0.001984	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781607	128781607	+	Missense_Mutation	SNP	G	A	A	rs148355179		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:128781607G>A	uc001qet.3	+	1	753	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	KCNJ5_uc009zck.3_Missense_Mutation_p.E147K|KCNJ5_uc001qew.3_Missense_Mutation_p.E147K	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	147					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.E147K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATTGAGACCGAAACAACCAT	0.527000														133			6		0	0	0.003080	0	0
THSD4	79875	broad.mit.edu	37	15	72021016	72021016	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:72021016G>A	uc002atb.1	+	7	1565	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	THSD4_uc002atd.1_Missense_Mutation_p.E170K|THSD4_uc010ukg.1_Missense_Mutation_p.E136K|THSD4_uc002ate.2_Missense_Mutation_p.E136K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	496						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACTGCCGGAGAGTCCTTTTT	0.483000														171			8		0	0	0.004482	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555645	50555645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:50555645G>A	uc003bjj.3	+	8	1402	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	MOV10L1_uc003bjk.4_Missense_Mutation_p.R440Q|MOV10L1_uc011arp.2_Missense_Mutation_p.R420Q|MOV10L1_uc011arq.1_Missense_Mutation_p.R201Q|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	440					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.R440Q(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTAATTGGGCGATACCTTGAA	0.388000														59			4		0	0	0.014758	0	0
ARID1B	57492	broad.mit.edu	37	6	157522413	157522413	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:157522413C>T	uc003qqp.3	+	16	4646	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	ARID1B_uc003qqo.3_Missense_Mutation_p.S1562F|ARID1B_uc003qqn.3_Missense_Mutation_p.S1602F	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1549	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548C(1)|p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCCAGCGCTCCCTGGAGAAC	0.617000														121			5		0	0	0.014758	0	0
TJP3	27134	broad.mit.edu	37	19	3735929	3735929	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:3735929C>T	uc010xhv.2	+	8	1222	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	TJP3_uc010xhs.2_Missense_Mutation_p.R375C|TJP3_uc010xht.2_Missense_Mutation_p.R339C|TJP3_uc010xhu.2_Missense_Mutation_p.R384C|TJP3_uc010xhw.2_Missense_Mutation_p.R394C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	389	PDZ 3.					tight junction	protein binding	p.R408H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGAGGATCGTGGGTATGT	0.527000														93			5		0	0	0.021553	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094833	139094833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:139094833G>A	uc003qie.3	+	0	177	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	8										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGAGCCAAGAGCGACACTGGG	0.597000														128			5		0	0	0.021553	0	0
DBH	1621	broad.mit.edu	37	9	136508583	136508583	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:136508583G>A	uc004cel.3	+	3	802	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	265					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			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)	CCACCACATGGAAGTCTTCCA	0.657000														61			4		0	0	0.009096	0	0
TUSC3	7991	broad.mit.edu	37	8	15519760	15519760	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:15519760C>T	uc003wwt.3	+	4	1007	c.663C>T	c.(661-663)aaC>aaT	p.N221N	TUSC3_uc003wwu.3_Silent_p.N221N	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	221					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAAGGAACAACTTGGAGTTCA	0.403000														111			6		0	0	0.001984	0	0
MFNG	4242	broad.mit.edu	37	22	37876307	37876307	+	Missense_Mutation	SNP	G	A	A	rs146256245	byFrequency	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:37876307G>A	uc003ass.2	-	2	598	c.335C>T	c.(334-336)gCg>gTg	p.A112V	MFNG_uc011anj.2_Missense_Mutation_p.A98V|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	112					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GCTGTGTTCCGCGGAGCAGTT	0.597000														49			10		0	0	0.008291	0	0
LUZP4	51213	broad.mit.edu	37	X	114541098	114541098	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:114541098G>A	uc004eqa.3	+	3	705	c.671G>A	c.(670-672)aGa>aAa	p.R224K	LUZP4_uc004eqb.3_Missense_Mutation_p.R142K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	224						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CACTCAGAGAGATCTCATGGT	0.473000														59			6		0	0	0.001984	0	0
HNF1A	6927	broad.mit.edu	37	12	121431342	121431342	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:121431342G>A	uc001tzg.3	+	2	569	c.546G>A	c.(544-546)caG>caA	p.Q182Q	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.Q182Q|HNF1A_uc001tzf.3_Silent_p.Q182Q|HNF1A_uc010szn.2_Silent_p.Q182Q|HNF1A_uc021rfa.1_Silent_p.Q182Q|HNF1A_uc021rfb.1_Silent_p.Q54Q|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	182					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGCAGGGCAGGGAGGGCTGA	0.592000									Hepatic Adenoma, Familial Clustering of					374			15		0	0	0.028581	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703027	27703027	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:27703027C>T	uc001itu.2	-	0	271	c.153G>A	c.(151-153)ccG>ccA	p.P51P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	51					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGGGGATTTCGGGGGTGCCA	0.682000														108			6		0	0	0.001984	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841876	8841876	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:8841876C>T	uc010xkg.2	+	0	486	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACCTCCATCACCCTGCATT	0.552000														126			10		0	0	0.010729	0	0
OR10K1	391109	broad.mit.edu	37	1	158435856	158435856	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:158435856C>T	uc010pij.2	+	0	505	c.505C>T	c.(505-507)Cac>Tac	p.H169Y		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCTGCCCTTCCACTCCTCCAA	0.537000														205			6		0	0	0.004482	0	0
SCN1A	6323	broad.mit.edu	37	2	166901655	166901655	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:166901655G>A	uc002udo.4	-	11	1787	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	SCN1A_uc010fpk.3_Silent_p.F520F|SCN1A_uc021vsb.1_Silent_p.F520F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	520						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGATTTTTGGAATTCATCCT	0.438000														179			6		0	0	0.003080	0	0
GPR77	27202	broad.mit.edu	37	19	47844136	47844136	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:47844136C>T	uc002pgk.1	+	1	151	c.80C>T	c.(79-81)gCc>gTc	p.A27V	GPR77_uc010ela.1_Missense_Mutation_p.A27V|GPR77_uc021uwn.1_Missense_Mutation_p.A27V	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	27					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CTGGATGGCGCCTGCCTGGCC	0.662000														106			5		0	0	0.021553	0	0
CASP10	843	broad.mit.edu	37	2	202074268	202074268	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:202074268G>A	uc002uxj.1	+	8	1816	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.L399L|CASP10_uc002uxk.1_Silent_p.L423L|CASP10_uc002uxl.2_Silent_p.L466L|CASP10_uc002uxm.2_Silent_p.L423L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	466					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTAATCATCTGAAGAAATTGG	0.388000														107			6		0	0	0.003080	0	0
GABRQ	55879	broad.mit.edu	37	X	151806767	151806767	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:151806767C>T	uc004ffp.1	+	0	131	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	37						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAGTTCTCCTCTGCTGTGC	0.632000														32			5		0	0	0.021553	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504246	220504246	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:220504246C>T	uc002vmo.4	+	19	3356	c.3147C>T	c.(3145-3147)tcC>tcT	p.S1049S	SLC4A3_uc002vmp.4_Silent_p.S1022S|SLC4A3_uc010fwm.3_Silent_p.S572S	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1022	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCTCCGGTTTCCACC	0.682000														80			6		0	0	0.003080	0	0
VPS28	51160	broad.mit.edu	37	8	145650164	145650164	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:145650164G>A	uc003zct.1	-	6	429	c.339C>T	c.(337-339)gaC>gaT	p.D113D	VPS28_uc003zcs.1_Silent_p.D113D	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	113	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGATGGGCCGGTCCTCCTTGA	0.667000														91			6		0	0	0.021553	0	0
LAMB4	22798	broad.mit.edu	37	7	107748102	107748102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:107748102C>T	uc010ljo.1	-	5	649	c.565G>A	c.(565-567)Gat>Aat	p.D189N	LAMB4_uc003vey.2_Missense_Mutation_p.D189N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	189	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTTCAATATCCGAGTATTTG	0.363000														62			4		0	0	0.021553	0	0
C14orf101	54916	broad.mit.edu	37	14	57070588	57070588	+	Missense_Mutation	SNP	C	T	T	rs149705965	byFrequency	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:57070588C>T	uc001xcm.3	+	3	522	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.R134C|C14orf101_uc010aot.1_Missense_Mutation_p.R134C|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	134						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TTCATTTTCTCGTCTAACATG	0.438000														122			5		0	0	0.001984	0	0
HK2	3099	broad.mit.edu	37	2	75115072	75115073	+	Missense_Mutation	DNP	CC	TT	TT	rs145465326		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:75115072_75115073CC>TT	uc002snd.3	+	15	4188_4189	c.2262_2263CC>TT	c.(2260-2265)gtccgt>gtTTgt	p.R755C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	755	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGAGATTGTCCGTAACATTCT	0.475000														109			5		0	0	0.004672	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602330	234602330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:234602330C>T	uc002vuv.4	+	0	819	c.680C>T	c.(679-681)tCa>tTa	p.S227L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.S227L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	228					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTCTGTTTTCAAAGTATGAA	0.393000														151			6		0	0	0.021553	0	0
RIOK1	83732	broad.mit.edu	37	6	7405486	7405486	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:7405486C>T	uc003mxn.3	+	11	1275	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	RIOK1_uc003mxo.3_Silent_p.F126F	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	367	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TGACAGATTTCTTTATGAGGC	0.363000														34			4		0	0	0.014758	0	0
OR2A2	442361	broad.mit.edu	37	7	143807056	143807056	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:143807056C>T	uc011ktz.2	+	0	381	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCATCTGCCACCCTTTCCAGT	0.473000														109			5		0	0	0.014758	0	0
C7orf63	79846	broad.mit.edu	37	7	89938617	89938617	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:89938617G>A	uc010lep.3	+	21	2842	c.2591G>A	c.(2590-2592)aGa>aAa	p.R864K	C7orf63_uc011khj.2_Missense_Mutation_p.R846K|C7orf63_uc011khk.2_Missense_Mutation_p.R380K	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	864							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAAGCCTCCAGATACCATAAA	0.308000														85			5		0	0	0.021553	0	0
RPAP1	26015	broad.mit.edu	37	15	41812679	41812679	+	Silent	SNP	G	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:41812679G>C	uc001zod.3	-	21	3829	c.3705C>G	c.(3703-3705)ccC>ccG	p.P1235P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1235	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity	p.P1235L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACGCTGCAGGGGCAGGAGGA	0.592000														24			3		0	0	0.004672	0	0
TTC17	55761	broad.mit.edu	37	11	43511823	43511823	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:43511823C>T	uc001mxi.3	+	21	3135	c.3065C>T	c.(3064-3066)gCc>gTc	p.A1022V	TTC17_uc010rfj.2_Missense_Mutation_p.A1022V|TTC17_uc001mxl.3_Missense_Mutation_p.A78V	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1022							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGCATGGCAGCCCTCTACTGG	0.522000														80			6		0	0	0.001984	0	0
DET1	55070	broad.mit.edu	37	15	89074606	89074606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:89074606G>A	uc002bmq.2	-	2	553	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.Q111*|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	111						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACTGACCGCTGGTCATTGCCA	0.532000														61			4		0	0	0.009096	0	0
SUN1	23353	broad.mit.edu	37	7	909027	909027	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:909027C>T	uc021zym.1	+	16	2042	c.2022C>T	c.(2020-2022)tcC>tcT	p.S674S	GET4_uc003sjj.1_Intron|SUN1_uc011jvq.2_Silent_p.S571S|SUN1_uc003sjf.3_Silent_p.S591S|SUN1_uc003sjg.3_Silent_p.S579S|SUN1_uc011jvr.2_Silent_p.S472S|SUN1_uc003sji.3_Silent_p.S512S|SUN1_uc003sjk.3_Silent_p.S313S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	701	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAAAGGCTCCCAGGGGTACC	0.547000														151			10		0	0	0.010729	0	0
SCN7A	6332	broad.mit.edu	37	2	167262274	167262274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:167262274C>T	uc002udu.2	-	24	4995	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCTTGTTTTCGTTTCAAAGT	0.363000														173			7		0	0	0.001984	0	0
VN1R2	317701	broad.mit.edu	37	19	53762361	53762361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:53762361G>A	uc002qbi.2	+	0	817	c.733G>A	c.(733-735)Gat>Aat	p.D245N		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	245					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AAAGAAAGGAGATTTGGGATA	0.428000														73			5		0	0	0.014758	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833122	34833122	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:34833122C>T	uc002nvd.4	+	9	3142	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	761										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATGGCTCATCCCAGCAGCCAG	0.582000														150			7		0	0	0.001984	0	0
ESYT3	83850	broad.mit.edu	37	3	138187005	138187005	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:138187005C>T	uc003esk.3	+	11	1503	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	426						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GAGTGGCTTTCATTGCTTACT	0.582000														518			26		0	0	0.007291	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														50			3		0	0	0.004672	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37785468	37785468	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:37785468G>A	uc002hrz.3	+	1	596	c.127G>A	c.(127-129)Gag>Aag	p.E43K	PPP1R1B_uc010cvx.3_Missense_Mutation_p.E43K|PPP1R1B_uc002hsb.3_Missense_Mutation_p.E7K|PPP1R1B_uc002hsc.3_Missense_Mutation_p.E7K	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	43					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGGCTCTCAGAGCACTCCTC	0.647000														70			6		0	0	0.006214	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926341	156926341	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:156926341G>A	uc001fqo.3	-	17	2462	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ARHGEF11_uc001fqn.3_Silent_p.F514F|ARHGEF11_uc001fqp.1_Silent_p.F3F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	474	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TATTGAGGGCGAAGTCCATGG	0.527000														101			5		0	0	0.001984	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189541	167189541	+	Missense_Mutation	SNP	C	T	T	rs147443553		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:167189541C>T	uc003fes.1	-	1	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SERPINI2_uc003fer.1_Missense_Mutation_p.E28K|SERPINI2_uc003fet.1_Missense_Mutation_p.E28K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	28					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S38S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTGCAAATTCGGTATTTTTT	0.368000														111			8		0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100685192	100685192	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:100685192C>T	uc003uxp.1	+	2	10548	c.10495C>T	c.(10495-10497)Cct>Tct	p.P3499S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3499	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P3499H(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)					CAATTCATCTCCTACAACTGC	0.517000														238			12		0	0	0.013537	0	0
SAGE1	55511	broad.mit.edu	37	X	134993456	134993456	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:134993456G>A	uc004ezh.3	+	16	2278	c.2111G>A	c.(2110-2112)gGa>gAa	p.G704E	SAGE1_uc010nry.1_Missense_Mutation_p.G673E|SAGE1_uc011mvv.2_Missense_Mutation_p.G328E	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	704										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTCAGGAGCTGGTATT	0.468000														54			7		0	0	0.001984	0	0
OR5A1	219982	broad.mit.edu	37	11	59211109	59211109	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:59211109C>T	uc001nnx.1	+	0	468	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTGGTGGCTTCCTGAGCTCCC	0.562000														266			10		0	0	0.010729	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265234	42265234	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:42265234G>A	uc002orm.2	+	2	651	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	168	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCACCTGTGAACCTGAGGT	0.567000														183			12		0	0	0.013537	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026429	129026429	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:129026429G>A	uc002tpt.4	-	1	577	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	181					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTAGCAGGGTGATGTAGTAGA	0.612000														35			6		0	0	0.021553	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	T	T	rs150927973		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:120337285C>T	uc001eig.3	-	6	873	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_uc001eif.3_Missense_Mutation_p.E145K	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	145	C-type lectin.					extracellular region	sugar binding	p.E145K(4)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000														416			26		0	0	0.007291	0	0
COL15A1	1306	broad.mit.edu	37	9	101797632	101797632	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:101797632G>A	uc004azb.1	+	19	2427	c.2221_splice	c.e19-1	p.D741_splice		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	741	Nonhelical region 3 (NC3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTTCCCCAGGATACCGAAGG	0.532000														78			5		0	0	0.014758	0	0
RBM41	55285	broad.mit.edu	37	X	106331885	106331885	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:106331885G>A	uc004emz.3	-	4	762	c.708C>T	c.(706-708)ctC>ctT	p.L236L	RBM41_uc004emy.2_Silent_p.L236L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	236							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CCTTGTCCTGGAGTAATGATG	0.493000														21			3		0	0	0.004672	0	0
ZNF543	125919	broad.mit.edu	37	19	57838039	57838039	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:57838039G>T	uc002qoi.2	+	2	541	c.184G>T	c.(184-186)Gat>Tat	p.D62Y		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTACCAGTTGGATCACAGACA	0.498000														73			6		1.06961e-07	1.11195e-07	0.003080	1	0
DST	667	broad.mit.edu	37	6	56765251	56765251	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:56765251G>A	uc021zba.1	-	2	405	c.385C>T	c.(385-387)Cac>Tac	p.H129Y				Q03001	DYST_HUMAN	RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltName: Full=230/240 kDa bullous pemphigoid antigen; AltName: Full=Bullous pemphigoid antigen 1;          Short=BPA;          Short=Bullous pemphigoid antigen; AltName: Full=Dystonia musculorum protein; AltName: Full=Hemidesmosomal plaque protein;	7484	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAACAGAGTGATAAAATTCT	0.408000														201			11		0	0	0.010729	0	0
P2RY13	53829	broad.mit.edu	37	3	151046682	151046682	+	Silent	SNP	A	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:151046682A>C	uc003eyv.2	-	1	183	c.162T>G	c.(160-162)gtT>gtG	p.V54V	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	54						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CGGTCAAGAAAACCACTGTGT	0.507000														127			6		0	0	0.021553	0	0
OR12D2	26529	broad.mit.edu	37	6	29364501	29364501	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:29364501G>A	uc003nmf.4	+	0	86	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTCAGTCACCGAATTTCTCCT	0.433000														198			14		0	0	0.004990	0	0
HOXB-AS3	404266	broad.mit.edu	37	17	46669655	46669655	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:46669655G>A	uc021tzi.1	+	1		c.1_splice	c.e1-1		HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_Silent_p.F242F|HOXB-AS3_uc021tzj.1_Splice_Site					Homo sapiens uncharacterized LOC404266 (LOC404266), transcript variant 3, non-coding RNA.																		GCCGGTTCTGGAACCAGATCT	0.592000														129			6		0	0	0.004482	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038621	128038621	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:128038621G>A	uc011kol.1	-	6	772	c.666C>T	c.(664-666)atC>atT	p.I222I	IMPDH1_uc011kom.1_Silent_p.I217I|IMPDH1_uc003vmt.2_Silent_p.I197I|IMPDH1_uc003vmu.2_Silent_p.I307I|IMPDH1_uc003vmx.2_Silent_p.I230I|IMPDH1_uc003vmy.2_Silent_p.I238I|IMPDH1_uc003vmw.2_Silent_p.I297I|IMPDH1_uc011kon.1_Silent_p.I274I|IMPDH1_uc003vmv.2_Silent_p.I271I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	222	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CGGTGCGGGCGATGATGGCCA	0.582000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			7		0	0	0.003080	0	0
MLIP	90523	broad.mit.edu	37	6	53986275	53986275	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:53986275C>T	uc011dxa.2	+	1	160	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	MLIP_uc003pcf.2_Silent_p.L32L|MLIP_uc003pcg.4_Silent_p.L32L|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	32						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGCCAAACCTCTGATCTTCAC	0.408000														111			6		0	0	0.006214	0	0
PKHD1	5314	broad.mit.edu	37	6	51882277	51882277	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:51882277G>A	uc003pah.1	-	33	5807	c.5531C>T	c.(5530-5532)tCc>tTc	p.S1844F	PKHD1_uc003pai.3_Missense_Mutation_p.S1844F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1844					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCATTGGGAACTTTCCTC	0.493000														92			5		0	0	0.014758	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048853	35048853	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:35048853C>T	uc003ojx.4	+	16	2769	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L	ANKS1A_uc011dst.2_Missense_Mutation_p.P416L|ANKS1A_uc010jvp.2_Missense_Mutation_p.P250L	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	876						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTGCTGCCTCCAGGGGAC	0.627000														47			7		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9068069	9068069	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:9068069G>A	uc002mkp.3	-	2	19581	c.19377C>T	c.(19375-19377)acC>acT	p.T6459T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6461	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						CCCAGGTAAGGGTACCCTGTG	0.483000														194			15		0	0	0.004990	0	0
RFPL1	5988	broad.mit.edu	37	22	29835128	29835128	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:29835128G>A	uc003afn.3	+	0	557	c.348G>A	c.(346-348)atG>atA	p.M116I	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	116	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCTGCAGATGAACCCAAGGA	0.517000														91			5		0	0	0.021553	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329620	24329620	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:24329620G>A	uc011mjw.2	-	0	1813	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	605										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATTCCTGCAGGAGCGGGGGCA	0.637000														23			5		0	0	0.014758	0	0
IGHE	3497	broad.mit.edu	37	14	106067791	106067791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:106067791G>A	uc001yrw.1	-	1	329	c.317C>T	c.(316-318)tCg>tTg	p.S106L	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S53L|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GTCTGTGGACGATGGAGTGTG	0.597000														236			15		0	0	0.028581	0	0
OR13C4	138804	broad.mit.edu	37	9	107288987	107288987	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:107288987G>A	uc011lvn.2	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTTCCCACAGAAAGGCCATC	0.388000														80			5		0	0	0.014758	0	0
FN1	2335	broad.mit.edu	37	2	216271880	216271880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:216271880G>A	uc002vfa.3	-	17	2949	c.2683C>T	c.(2683-2685)Caa>Taa	p.Q895*	FN1_uc002vfc.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfe.3_Nonsense_Mutation_p.Q895*|FN1_uc002vff.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfg.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfh.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfi.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfj.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfb.3_Nonsense_Mutation_p.Q895*	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	895	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTCTTGTTGAATGACAACA	0.423000														91			7		0	0	0.003080	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904714	73904714	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:73904714G>A	uc011dyh.2	+	14	2780	c.2433G>A	c.(2431-2433)caG>caA	p.Q811Q	KCNQ5_uc011dyi.2_Silent_p.Q802Q|KCNQ5_uc010kat.3_Silent_p.Q783Q|KCNQ5_uc003pgk.3_Silent_p.Q792Q|KCNQ5_uc011dyj.2_Silent_p.Q682Q|KCNQ5_uc011dyk.2_Silent_p.Q542Q	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	792					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAATGTTCAGGTTGCACAGT	0.507000														62			4		0	0	0.009096	0	0
GPR98	84059	broad.mit.edu	37	5	89920996	89920996	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:89920996G>A	uc003kju.3	+	5	704	c.608G>A	c.(607-609)gGa>gAa	p.G203E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	203	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		CCAGTTAAAGGAAATATCACC	0.418000														17			4		0	0	0.014758	0	0
CUL3	8452	broad.mit.edu	37	2	225370813	225370813	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:225370813G>A	uc010fwy.1	-	7	1137	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	CUL3_uc010zls.1_Missense_Mutation_p.L290F|CUL3_uc002vny.2_Missense_Mutation_p.L356F	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	356					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GATTCCAGGAGGAAGCGATCG	0.358000														29			3		0	0	0.009096	0	0
FN1	2335	broad.mit.edu	37	2	216289870	216289870	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:216289870T>C	uc002vfa.3	-	6	1249	c.983A>G	c.(982-984)aAt>aGt	p.N328S	FN1_uc002vfc.3_Missense_Mutation_p.N328S|FN1_uc002vfe.3_Missense_Mutation_p.N328S|FN1_uc002vff.3_Missense_Mutation_p.N328S|FN1_uc002vfg.3_Missense_Mutation_p.N328S|FN1_uc002vfh.3_Missense_Mutation_p.N328S|FN1_uc002vfi.3_Missense_Mutation_p.N328S|FN1_uc002vfj.3_Missense_Mutation_p.N328S|FN1_uc002vfb.3_Missense_Mutation_p.N328S|FN1_uc002vfl.3_Missense_Mutation_p.N328S	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	328	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTTGCTTATTTCCTTGTGT	0.498000														230			8		0	0	0.003080	0	0
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512000														168			11		0	0	0.016723	0	0
MUC17	140453	broad.mit.edu	37	7	100681341	100681341	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:100681341C>T	uc003uxp.1	+	2	6697	c.6644C>T	c.(6643-6645)cCt>cTt	p.P2215L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2215	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCAACTCCTAGTGAAGGA	0.502000														373			20		0	0	0.012319	0	0
ZNF611	81856	broad.mit.edu	37	19	53209792	53209792	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:53209792G>A	uc002pzz.3	-	6	833	c.516C>T	c.(514-516)atC>atT	p.I172I	ZNF611_uc010eqc.3_Silent_p.I102I|ZNF611_uc010ydo.2_Silent_p.I102I|ZNF611_uc010ydp.2_Silent_p.I172I|ZNF611_uc010ydq.2_Silent_p.I172I|ZNF611_uc010ydr.2_Silent_p.I103I|ZNF611_uc002qaa.4_Silent_p.I102I|ZNF611_uc021uyy.1_Silent_p.I103I	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTTCACCTTTGATCTGAAATA	0.403000														134			6		0	0	0.021553	0	0
TAGAP	117289	broad.mit.edu	37	6	159457252	159457252	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:159457252C>T	uc003qrz.3	-	9	2135	c.1803G>A	c.(1801-1803)caG>caA	p.Q601Q	TAGAP_uc011eft.2_Silent_p.Q538Q|TAGAP_uc003qsa.3_Silent_p.Q423Q	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	601					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGCCGGGCCCTGCATGGCCT	0.652000														50			4		0	0	0.009096	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327203	150327203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:150327203G>A	uc022apv.1	-	1	508	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GIMAP6_uc003whn.3_Missense_Mutation_p.P10S|GIMAP6_uc003whm.3_Missense_Mutation_p.P10S	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	10							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCCTGGGGAATTTGTTCA	0.428000														102			7		0	0	0.001984	0	0
PHF20L1	51105	broad.mit.edu	37	8	133790096	133790096	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:133790096C>T	uc003ytt.3	+	1	347	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	PHF20L1_uc003ytr.3_Missense_Mutation_p.R8C|PHF20L1_uc010mdv.3_Missense_Mutation_p.R8C|PHF20L1_uc003yts.3_Missense_Mutation_p.R8C|PHF20L1_uc011lja.2_Missense_Mutation_p.R8C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	8							nucleic acid binding|zinc ion binding	p.R8L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCCCCCAAATCGCCCTGGAAT	0.368000														87			5		0	0	0.021553	0	0
COL6A2	1292	broad.mit.edu	37	21	47541503	47541503	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr21:47541503C>T	uc002zia.1	+	17	1574	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	COL6A2_uc002zhz.1_Missense_Mutation_p.R498C|COL6A2_uc002zhy.1_Missense_Mutation_p.R498C	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	498	Triple-helical region.		R -> H (in UCMD).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCAGGACCCCGTGGAGACTC	0.657000														23			3		0	0	0.009096	0	0
AHCY	191	broad.mit.edu	37	20	32879290	32879291	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:32879290_32879291AG>GA	uc002xai.3	-	4	631_632	c.492_493CT>TC	c.(490-495)ctctac>ctTCac	p.Y165H	AHCY_uc002xaj.3_Missense_Mutation_p.Y137H	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	165					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCATCTTGTAGAGGTTGTGGA	0.564000														122			7		0	0	0.004672	0	0
H2AFY2	55506	broad.mit.edu	37	10	71835480	71835480	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:71835480C>T	uc001jqm.3	+	1	525	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	22	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAGGTGTCATCTTTCCAGTGG	0.552000														58			7		0	0	0.003080	0	0
ADAM12	8038	broad.mit.edu	37	10	127760074	127760074	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:127760074C>T	uc001ljk.2	-	11	1717	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E	ADAM12_uc010qul.1_Missense_Mutation_p.G386E|ADAM12_uc001ljm.3_Missense_Mutation_p.G435E|ADAM12_uc001ljn.3_Missense_Mutation_p.G432E|ADAM12_uc001ljl.4_Missense_Mutation_p.G432E	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	435	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACACTCCTCTCCTTCTTCCAC	0.522000														121			10		0	0	0.010729	0	0
LPAR2	9170	broad.mit.edu	37	19	19738063	19738063	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:19738063C>T	uc002nnb.4	-	1	170	c.31G>A	c.(31-33)Gag>Aag	p.E11K	LPAR2_uc002nna.4_Missense_Mutation_p.E11K|LPAR2_uc002nnc.4_Missense_Mutation_p.E11K	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	11					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCGATGGTCTCGTTGTAGTAG	0.582000														105			7		0	0	0.004482	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144867988	144867988	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:144867988C>T	uc021ouh.1	-	32	5753	c.5451G>A	c.(5449-5451)caG>caA	p.Q1817Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.Q1817Q|PDE4DIP_uc001elx.4_Silent_p.Q1711Q|PDE4DIP_uc001elv.4_Silent_p.Q824Q|PDE4DIP_uc001ema.3_Silent_p.Q4Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1817					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACTCCCTTTCTGAGGCCTCA	0.547000			T	PDGFRB	MPD									380			10		0	0	0.006214	0	0
THEMIS	387357	broad.mit.edu	37	6	128134948	128134948	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:128134948C>T	uc011ebt.2	-	3	987	c.838G>A	c.(838-840)Gag>Aag	p.E280K	THEMIS_uc010kfa.3_Missense_Mutation_p.E183K|THEMIS_uc021zfa.1_Missense_Mutation_p.E280K|THEMIS_uc010kfb.3_Missense_Mutation_p.E245K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	280	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	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						ATGGGGAACTCTTTACTAGTC	0.408000														111			6		0	0	0.001984	0	0
TIPRL	261726	broad.mit.edu	37	1	168153168	168153168	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:168153168C>G	uc001gfg.3	+	1	278	c.133C>G	c.(133-135)Ctc>Gtc	p.L45V	TIPRL_uc001gff.3_Missense_Mutation_p.L45V	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	45					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TATGCCATCTCTCCCTGAAAT	0.383000														74			4		0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	21073838	21073838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:21073838G>A	uc010vbe.2	-	24	3685	c.3685C>T	c.(3685-3687)Cca>Tca	p.P1229S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1229	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTATGAATGGAACAGTTTCT	0.423000														88			5		0	0	0.021553	0	0
DGKG	1608	broad.mit.edu	37	3	186006599	186006599	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:186006599G>A	uc003fqa.3	-	5	981	c.444C>T	c.(442-444)gtC>gtT	p.V148V	DGKG_uc003fqb.3_Silent_p.V148V|DGKG_uc003fqc.3_Silent_p.V148V|DGKG_uc011brx.2_Silent_p.V148V	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	148					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AAGACCGAGGGACGGGGGGTT	0.552000														308			16		0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427349	38427349	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:38427349C>T	uc003jlc.2	+	13	2395	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	EGFLAM_uc003jlb.2_Silent_p.V683V|EGFLAM_uc003jle.2_Silent_p.V449V|EGFLAM_uc003jlf.2_Silent_p.V49V	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	683	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGACCGGTGTCCTCAGGTGAG	0.502000														179			10		0	0	0.010729	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572225	90572225	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:90572225T>A	uc003pnr.3	+	6	993	c.797T>A	c.(796-798)tTa>tAa	p.L266*	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Nonsense_Mutation_p.L266*|CASP8AP2_uc011dzz.2_Nonsense_Mutation_p.L266*	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	266					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CGAAAAGACTTAAGTACTGGC	0.423000														193			6		0	0	0.021553	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173410	47173410	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:47173410A>T	uc001rpi.2	-	9	1100	c.701T>A	c.(700-702)gTg>gAg	p.V234E	SLC38A4_uc001rpj.2_Missense_Mutation_p.V234E|SLC38A4_uc009zkl.2_Missense_Mutation_p.V234E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	234					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AACAAAAAACACCATGCAGGT	0.378000														87			6		0	0	0.021553	0	0
ESRRB	2103	broad.mit.edu	37	14	76948948	76948948	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:76948948G>A	uc001xsr.3	+	6	1004	c.633G>A	c.(631-633)aaG>aaA	p.K211K	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.K211K	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CAGTGACCAAGATTGTCTCAT	0.557000														46			5		0	0	0.001984	0	0
GHDC	84514	broad.mit.edu	37	17	40343146	40343146	+	Silent	SNP	G	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:40343146G>T	uc002hzd.3	-	4	1456	c.972C>A	c.(970-972)ctC>ctA	p.L324L	GHDC_uc002hzg.2_Silent_p.L324L|GHDC_uc010wgg.2_Silent_p.L285L|GHDC_uc002hze.4_Silent_p.L324L|GHDC_uc002hzf.4_Silent_p.L324L	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	324						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTTGACTGGGAGCAGCTCGA	0.637000														82			7		0.00448238	0.0046213	0.004482	1	0
TCRVA15	0	broad.mit.edu	37	14	22217916	22217916	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:22217916G>A	uc010aiq.1	+	1	346	c.267G>A	c.(265-267)aaG>aaA	p.K89K	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.K85K					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		TGAATAAAAAGGATAAACATC	0.433000														53			4		0	0	0.009096	0	0
FILIP1	27145	broad.mit.edu	37	6	76024879	76024879	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:76024879G>A	uc010kbe.3	-	5	1208	c.678C>T	c.(676-678)gcC>gcT	p.A226A	FILIP1_uc003phy.1_Silent_p.A223A|FILIP1_uc003phz.3_Silent_p.A124A|FILIP1_uc003pia.3_Silent_p.A223A|FILIP1_uc003pib.1_5'UTR	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	223										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTTGCGGGCTTGATAAG	0.338000														46			5		0	0	0.014758	0	0
SCN1A	6323	broad.mit.edu	37	2	166848405	166848405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:166848405C>T	uc002udo.4	-	27	5607	c.5380G>A	c.(5380-5382)Gaa>Aaa	p.E1794K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1766K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1783K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1794						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCACTTTCTTCAGTAGCAACA	0.418000														95			7		0	0	0.001984	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716761	13716761	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:13716761G>A	uc001rbt.2	-	12	3590	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1137					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.F1137L(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTTTGTTCGGAACTGGTCCA	0.602000														48			8		0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37027685	37027685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:37027685C>T	uc004ddl.2	+	0	1254	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	401										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						GGAGTGTCTCCTCTCTTCCCG	0.617000														32			4		0	0	0.021553	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95616402	95616402	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:95616402C>T	uc003uoc.4	+	8	1106	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	DYNC1I1_uc003uod.4_Missense_Mutation_p.R260C|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240C|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257C|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266C	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	277					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCTTTCAATCGTCAGTTCTA	0.448000														261			8		0	0	0.003080	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964093	73964093	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:73964093G>A	uc004eby.3	-	2	916	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	100					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGATGTGAGGGAGATGGCATT	0.512000														49			4		0	0	0.009096	0	0
RINT1	60561	broad.mit.edu	37	7	105183011	105183011	+	Missense_Mutation	SNP	G	A	A	rs139214585	by1000genomes	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:105183011G>A	uc003vda.1	+	3	661	c.430G>A	c.(430-432)Gat>Aat	p.D144N	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	144					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTGGATGGACGATCTTGGAAC	0.413000														76			5		0	0	0.001984	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925237	4925237	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrY:4925237C>T	uc004fqo.3	+	0	1107	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	PCDH11Y_uc010nwg.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fql.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R125C	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	125	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCGCATTGATCGTGAGAAATT	0.443000														79			9		0	0	0.006214	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159306	118159306	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:118159306A>T	uc003yoh.3	+	1	415	c.185A>T	c.(184-186)aAg>aTg	p.K62M	SLC30A8_uc010mcz.3_Missense_Mutation_p.K13M|SLC30A8_uc003yog.3_Missense_Mutation_p.K13M|SLC30A8_uc011lia.2_Missense_Mutation_p.K13M|SLC30A8_uc022bab.1_Missense_Mutation_p.K13M	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	62					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCCACAGAAAAGGGGGCGAAT	0.512000														449			20		0	0	0.008871	0	0
BEST3	144453	broad.mit.edu	37	12	70049365	70049365	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:70049365G>A	uc001svg.3	-	9	1556	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.P230P|BEST3_uc010stm.2_Silent_p.P337P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	443						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGCCCTGGGGGGGTTTCTTG	0.592000														90			5		0	0	0.014758	0	0
PGA5	5222	broad.mit.edu	37	11	61015892	61015892	+	Splice_Site	SNP	G	A	A	rs147049038	byFrequency	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:61015892G>A	uc001nqz.3	+	6	712	c.657_splice	c.e6-1	p.A219_splice		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	219					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						TTTCCACAGCGATGACAAGAG	0.498000														373			10		0	0	0.010729	0	0
SMTNL2	342527	broad.mit.edu	37	17	4496341	4496341	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:4496341G>A	uc002fyf.1	+	2	672	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	SMTNL2_uc002fye.2_Missense_Mutation_p.R58Q	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	202										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GCCATCACCCGAGTCTCTGAC	0.637000														47			7		0	0	0.003080	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166530	161166530	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:161166530G>A	uc001fyt.4	-	1	1202	c.774C>T	c.(772-774)atC>atT	p.I258I	ADAMTS4_uc001fyu.2_Silent_p.I258I|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	258	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGATTGCGGATGCTTGGGT	0.627000														130			5		0	0	0.014758	0	0
KCNH1	3756	broad.mit.edu	37	1	210856890	210856890	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:210856890C>T	uc001hib.2	-	10	2873	c.2703G>A	c.(2701-2703)caG>caA	p.Q901Q	KCNH1_uc001hic.2_Silent_p.Q874Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	901					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)		GACTCCGATCCTGGGGACTCC	0.612000														39			5		0	0	0.014758	0	0
SPAG1	6674	broad.mit.edu	37	8	101243516	101243516	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:101243516G>A	uc003yjh.2	+	15	2074	c.1988_splice	c.e15+1	p.R663_splice	SPAG1_uc003yji.2_Splice_Site_p.R663_splice	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	663					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TATACAAACAGGCAAGTTCTT	0.254000														78			6		0	0	0.021553	0	0
DIDO1	11083	broad.mit.edu	37	20	61537302	61537302	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:61537302G>A	uc002ydr.2	-	5	1837	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	DIDO1_uc002yds.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydt.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydu.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydv.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydw.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydx.2_Missense_Mutation_p.H509Y|DIDO1_uc011aao.1_Missense_Mutation_p.H509Y	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	509					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGTAATTGTGATCGCTCGCC	0.557000														159			6		0	0	0.021553	0	0
MUC17	140453	broad.mit.edu	37	7	100682054	100682054	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:100682054G>A	uc003uxp.1	+	2	7410	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2453	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCCTAGTGAAGGAACCAC	0.537000														364			18		0	0	0.006122	0	0
TNN	63923	broad.mit.edu	37	1	175113579	175113579	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:175113579G>A	uc001gkl.1	+	17	3765	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1218	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAGACAATGATATCGCACT	0.512000														89			5		0	0	0.021553	0	0
SHANK3	85358	broad.mit.edu	37	22	51159572	51159572	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:51159572C>T	uc003bne.1	+	21	3359	c.3359C>T	c.(3358-3360)cCc>cTc	p.P1120L	SHANK3_uc003bnf.1_Missense_Mutation_p.P567L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1120										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCCTGGACCCCAGCTCACCC	0.726000														11			4		0	0	0.014758	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712585	70712585	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:70712585C>T	uc010ttg.2	-	0	1934	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TATGTGCATCCTTAAATGATA	0.438000														64			6		0	0	0.021553	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790621	137790621	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:137790621G>A	uc003erq.3	-	11	1842	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	DZIP1L_uc003err.1_Silent_p.V493V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	493						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTCCCGCTGGACTCTCAGCA	0.517000														196			10		0	0	0.008291	0	0
SPATA8	145946	broad.mit.edu	37	15	97328248	97328248	+	Silent	SNP	G	A	A	rs145348357		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:97328248G>A	uc002bue.3	+	2	426	c.219G>A	c.(217-219)agG>agA	p.R73R	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	73								p.R73R(2)|p.R73K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CTCACGGAAGGATCCAAAGGG	0.453000														115			5		0	0	0.021553	0	0
MMD2	221938	broad.mit.edu	37	7	4965083	4965083	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:4965083G>A	uc003sno.4	-	2	325	c.129_splice	c.e2+1	p.A43_splice	MMD2_uc003snl.1_Splice_Site|MMD2_uc003snn.4_Splice_Site_p.A43_splice|MMD2_uc010ksq.3_Splice_Site_p.A43_splice	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	43						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCAACTCACAGCATGGGTGGC	0.587000														113			6		0	0	0.001984	0	0
KCNK9	51305	broad.mit.edu	37	8	140630564	140630564	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:140630564G>A	uc003yvf.1	-	1	1126	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	KCNK9_uc003yvg.1_Silent_p.I354I|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	354						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACCCAGGAGAGATGGAGCTAA	0.502000														112			5		0	0	0.021553	0	0
CRB2	286204	broad.mit.edu	37	9	126132728	126132728	+	Missense_Mutation	SNP	C	T	T	rs138891622		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:126132728C>T	uc004bnx.1	+	6	1488	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	CRB2_uc004bnw.1_Missense_Mutation_p.R466C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGAGGTTTCGCACCACACT	0.607000														27			4		0	0	0.009096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725269	140725269	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:140725269G>A	uc003ljm.2	+	0	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D557N	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCAGAACGACAACGCGCC	0.622000														175			8		0	0	0.004482	0	0
SCN10A	6336	broad.mit.edu	37	3	38743472	38743472	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:38743472C>T	uc003ciq.3	-	25	4515	c.4515G>A	c.(4513-4515)acG>acA	p.T1505T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1505					sensory perception	voltage-gated sodium channel complex		p.T1505T(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAATTTTCGTCTTTTCTT	0.453000														66			5		0	0	0.021553	0	0
MUC16	94025	broad.mit.edu	37	19	9087697	9087697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:9087697G>A	uc002mkp.3	-	0	4322	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1373	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						GAGATTGGGTGAACTTGAGAT	0.468000														102			6		0	0	0.001984	0	0
NTRK2	4915	broad.mit.edu	37	9	87359971	87359971	+	Missense_Mutation	SNP	G	A	A	rs142393662		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:87359971G>A	uc004aoa.1	+	12	2217	c.1279G>A	c.(1279-1281)Ggt>Agt	p.G427S	NTRK2_uc004anv.1_Missense_Mutation_p.G414S|NTRK2_uc004any.1_Missense_Mutation_p.G427S|NTRK2_uc004anz.1_Missense_Mutation_p.G427S|NTRK2_uc004aob.1_Missense_Mutation_p.G427S|NTRK2_uc011lsz.2_Missense_Mutation_p.G427S|NTRK2_uc011lta.2_Missense_Mutation_p.G427S|NTRK2_uc011ltb.1_Missense_Mutation_p.G271S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	427					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGATAAAACCGGTCGGGAACA	0.458000										TSP Lung(25;0.17)				88			5		0	0	0.014758	0	0
MYH2	4620	broad.mit.edu	37	17	10432356	10432356	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:10432356C>T	uc010coi.3	-	26	3523	c.3395G>A	c.(3394-3396)cGg>cAg	p.R1132Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1132Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCGGGAGGCCCGCTCTGCCTC	0.602000														55			5		0	0	0.021553	0	0
IZUMO1	284359	broad.mit.edu	37	19	49249038	49249038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:49249038G>A	uc002pkj.3	-	1	627	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	27					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACGACAGACGGGTCACATATA	0.587000														105			9		0	0	0.006214	0	0
GALNTL1	57452	broad.mit.edu	37	14	69792741	69792741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:69792741G>A	uc001xlb.2	+	4	892	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	GALNTL1_uc001xla.2_Missense_Mutation_p.E189K|GALNTL1_uc010aqu.2_Missense_Mutation_p.E189K	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TGATCGGCGGGAAGGTGAGTC	0.572000														55			7		0	0	0.001984	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696918	38696918	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:38696918G>A	uc003avj.3	-	4	637	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	CSNK1E_uc003avk.3_Missense_Mutation_p.H126Y|CSNK1E_uc003avm.2_Missense_Mutation_p.H126Y	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	126	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACGTCCCGGTGGATGAAGTTC	0.597000														65			7		0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	31918640	31918640	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:31918640G>A	uc003tcm.2	-	3	855	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PDE1C_uc003tcn.1_Missense_Mutation_p.H132Y|PDE1C_uc003tco.2_Missense_Mutation_p.H192Y|PDE1C_uc003tcr.3_Missense_Mutation_p.H132Y|PDE1C_uc003tcs.3_Missense_Mutation_p.H132Y	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	132					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.H132H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCACTGCGTGAACGATGCTC	0.527000														98			6		0	0	0.001984	0	0
FBXL21	26223	broad.mit.edu	37	5	135273237	135273237	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:135273237G>A	uc021ydv.1	+	6		c.971_splice	c.e6+1		FBXL21_uc003lbc.3_Splice_Site|FBXL21_uc021ydw.1_Splice_Site|FBXL21_uc021ydx.1_Splice_Site	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTCGGAGGTAAGGATATT	0.413000														93			5		0	0	0.014758	0	0
RCL1	10171	broad.mit.edu	37	9	4826886	4826886	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:4826886C>T	uc003zis.2	+	2	495	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	79					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AGCCTGGCCTCCTGTATGGTG	0.438000														190			12		0	0	0.010729	0	0
DGCR8	54487	broad.mit.edu	37	22	20074158	20074158	+	Silent	SNP	C	T	T	rs139146240		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:20074158C>T	uc002zri.3	+	1	1101	c.672C>T	c.(670-672)atC>atT	p.I224I	DGCR8_uc010grz.3_Silent_p.I224I|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	224	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTAAAGCAATCGTTCAGAGAG	0.478000														129			8		0	0	0.003080	0	0
NR0B1	190	broad.mit.edu	37	X	30322750	30322750	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:30322750G>A	uc004dcf.4	-	1	1374	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	453	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGACTGTGCCGATGATGGGCC	0.458000														61			7		0	0	0.001984	0	0
FCRL3	115352	broad.mit.edu	37	1	157665245	157665245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:157665245C>T	uc001fqz.4	-	7	1577	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.A155T|FCRL3_uc001frb.3_Missense_Mutation_p.A429T|FCRL3_uc001frc.1_Missense_Mutation_p.A429T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	429	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCAGAGGGGGCTGAGCTGTTC	0.582000														146			6		0	0	0.021553	0	0
PAK3	5063	broad.mit.edu	37	X	110385365	110385365	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:110385365C>T	uc010npv.1	+	1	244	c.217C>T	c.(217-219)Cct>Tct	p.P73S	PAK3_uc010npt.1_Missense_Mutation_p.P73S|PAK3_uc010npu.1_Missense_Mutation_p.P73S|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.P73S|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.P73S|PAK3_uc004epa.2_Missense_Mutation_p.P73S	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	73	Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).			P -> S (in Ref. 2).	multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATCTCTCTTCCTTCAGACTT	0.413000										TSP Lung(19;0.15)				104			6		0	0	0.001984	0	0
OR6V1	346517	broad.mit.edu	37	7	142749644	142749644	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:142749644C>T	uc011ksv.2	+	0	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGCTGGAGATCTTGGTAACCA	0.493000														184			7		0	0	0.003080	0	0
NUP210L	91181	broad.mit.edu	37	1	154076521	154076521	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:154076521C>T	uc001fdw.3	-	12	1858	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.D596N	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	596						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCTTGTTTATCCATGTTCAGA	0.343000														71			5		0	0	0.014758	0	0
DKK2	27123	broad.mit.edu	37	4	107845819	107845819	+	Missense_Mutation	SNP	G	A	A	rs146683175	by1000genomes	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:107845819G>A	uc003hyi.3	-	2	1117	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H138Y	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	138					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCGGGATGTGAGGGGTTAAG	0.433000														88			7		0	0	0.004482	0	0
BEND2	139105	broad.mit.edu	37	X	18221933	18221933	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:18221933C>T	uc004cyj.4	-	4	749	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	BEND2_uc010nfb.2_Missense_Mutation_p.E199K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	199										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGGTCTGCTTCCTGCAGTTCA	0.488000														96			16		0	0	0.024245	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439461	150439461	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:150439461C>T	uc022apw.1	+	5	986	c.846C>T	c.(844-846)gtC>gtT	p.V282V	GIMAP1-GIMAP5_uc003whr.2_Silent_p.V78V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGAGGAAAGTCCTGGTGGTTG	0.592000														68			5		0	0	0.021553	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284485	33284485	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:33284485G>A	uc003oeb.3	-	1	361	c.209C>T	c.(208-210)gCt>gTt	p.A70V	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A70V|ZBTB22_uc021ywm.1_Missense_Mutation_p.A70V	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	70	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R69W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGCCCGATGAGCCCGGAACTC	0.607000														105			7		0	0	0.003080	0	0
LTF	4057	broad.mit.edu	37	3	46487963	46487963	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:46487963G>A	uc003cpq.3	-	10	1566	c.1325C>T	c.(1324-1326)cCt>cTt	p.P442L	LTF_uc003fzr.3_Missense_Mutation_p.P398L|LTF_uc010hjh.3_Missense_Mutation_p.P440L|LTF_uc003cpr.3_Missense_Mutation_p.P429L	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	442	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GTTAGGATCAGGGTCACTGCT	0.433000														86			4		0	0	0.009096	0	0
PAX4	5078	broad.mit.edu	37	7	127253547	127253547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:127253547C>T	uc010lld.1	-	4	784	c.578G>A	c.(577-579)gGa>gAa	p.G193E	PAX4_uc003vmf.2_Missense_Mutation_p.G191E|PAX4_uc003vmg.1_Missense_Mutation_p.G193E|PAX4_uc003vmh.3_Missense_Mutation_p.G191E	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	201					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCAGCTTTCCACGGGCCAC	0.592000														64			4		0	0	0.009096	0	0
MYH2	4620	broad.mit.edu	37	17	10440596	10440596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:10440596C>T	uc010coi.3	-	15	1979	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M617I|MYH2_uc010coj.3_Missense_Mutation_p.M617I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	617	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTAGAGTTTTCATTGCAGACT	0.438000														189			8		0	0	0.004482	0	0
SHROOM2	357	broad.mit.edu	37	X	9900855	9900855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:9900855C>T	uc004csu.1	+	5	3622	c.3532C>T	c.(3532-3534)Ccc>Tcc	p.P1178S	SHROOM2_uc004csv.2_Missense_Mutation_p.P13S|SHROOM2_uc011mic.1_Missense_Mutation_p.P13S|SHROOM2_uc004csw.1_Missense_Mutation_p.P13S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1178					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGTTCGCCCCCCAGAAACT	0.627000														20			3		0	0	0.004672	0	0
GALR3	8484	broad.mit.edu	37	22	38221146	38221146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:38221146G>A	uc003aub.1	+	1	801	c.776G>A	c.(775-777)tGg>tAg	p.W259*		NM_003614	NP_003605	O60755	GALR3_HUMAN	Homo sapiens galanin receptor 3 (GALR3), mRNA.	259					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CTGTGCTTCTGGTACGGCCGC	0.736000														20			4		0	0	0.009096	0	0
SRPK3	26576	broad.mit.edu	37	X	153050922	153050922	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:153050922G>A	uc004fik.3	+	20	4274	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	SRPK3_uc004fim.3_Missense_Mutation_p.E517K|SRPK3_uc004fil.3_Missense_Mutation_p.E551K|SRPK3_uc004fin.3_Missense_Mutation_p.E550K|SRPK3_uc010nul.3_Missense_Mutation_p.E475K	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	551					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACATCCCCGAAAAGCGGGC	0.617000														58			4		0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152708213	152708213	+	Silent	SNP	A	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:152708213A>T	uc021zhb.1	-	51	8704	c.8481T>A	c.(8479-8481)gtT>gtA	p.V2827V	SYNE1_uc003qot.4_Silent_p.V2834V|SYNE1_uc003qou.4_Silent_p.V2827V|SYNE1_uc010kjb.1_Silent_p.V2810V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2827					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.V2827G(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAACCTTGGCAACAGTCATTA	0.348000										HNSCC(10;0.0054)				62			4		0	0	0.009096	0	0
LPHN2	23266	broad.mit.edu	37	1	82447545	82447545	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:82447545C>T	uc001dit.4	+	17	3297	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S1039F|LPHN2_uc001div.3_Missense_Mutation_p.S1039F|LPHN2_uc009wcd.3_Missense_Mutation_p.S1039F|LPHN2_uc001diw.3_Missense_Mutation_p.S623F|LPHN2_uc009wce.1_Missense_Mutation_p.S140F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1052					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S1039F(2)|p.S1067F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCACCTGGTCCTTTGGGTTG	0.393000														189			10		0	0	0.006214	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173265	57173265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:57173265C>T	uc001cyk.4	+	8	1609	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	513					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CATTCACTTTCTGGCTCTCTC	0.488000														121			7		0	0	0.004482	0	0
IWS1	55677	broad.mit.edu	37	2	128253686	128253686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:128253686C>T	uc002ton.2	-	6	1907	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	535					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCTCTTTTTTCGCTGCAACAT	0.413000														185			10		0	0	0.006214	0	0
VN1R2	317701	broad.mit.edu	37	19	53762788	53762788	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:53762788G>A	uc002qbi.2	+	0	1244	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	387					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGAAATAGACGATTCTTTCAT	0.438000														107			7		0	0	0.001984	0	0
PCDH20	64881	broad.mit.edu	37	13	61987027	61987027	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr13:61987027C>T	uc001vid.4	-	1	1569	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	PCDH20_uc010thj.2_Missense_Mutation_p.G402E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	375	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCAGCCTGGTCCATTAGCAAG	0.423000														97			6		0	0	0.001984	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435999	5435999	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:5435999G>A	uc001ihy.3	-	3	860	c.822C>T	c.(820-822)ttC>ttT	p.F274F	TUBAL3_uc001ihz.3_Silent_p.F234F	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	274					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTGTCATGGGGAAATGTATTC	0.512000														170			10		0	0	0.008291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724446	7724446	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:7724446C>T	uc001aoi.3	+	8	2046	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.P612S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGACCCCCTCCCCGAGCTTCT	0.642000			T	WWTR1	epitheliod hemangioendothelioma									130			5		0	0	0.014758	0	0
UNC13A	23025	broad.mit.edu	37	19	17759387	17759387	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:17759387C>T	uc021uqk.1	-	15	1708	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	557					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTCCACACTTCGAAGTTGTGT	0.607000														65			4		0	0	0.021553	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42386655	42386655	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:42386655C>T	uc001zox.3	-	0	98	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	1					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACAGGCTCTCCATGCTAGCCC	0.637000														57			4		0	0	0.014758	0	0
SRL	6345	broad.mit.edu	37	16	4242622	4242622	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:4242622C>T	uc002cvz.4	-	5	967	c.954G>A	c.(952-954)ctG>ctA	p.L318L	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	777	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TCACCTGATTCAGGTCTTCTA	0.562000														131			6		0	0	0.003080	0	0
KIF21B	23046	broad.mit.edu	37	1	200967660	200967660	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:200967660G>A	uc001gvs.2	-	13	2246	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	KIF21B_uc009wzl.2_Silent_p.I643I|KIF21B_uc001gvr.2_Silent_p.I643I|KIF21B_uc010ppn.2_Silent_p.I643I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	643					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTTGATTTCGATCTCACAAG	0.572000														76			5		0	0	0.014758	0	0
A4GALT	53947	broad.mit.edu	37	22	43089624	43089624	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:43089624C>T	uc003bdb.3	-	2	595	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	A4GALT_uc021wqo.1_Missense_Mutation_p.V112I|A4GALT_uc021wqp.1_Missense_Mutation_p.V112I|A4GALT_uc010gzd.3_Missense_Mutation_p.V112I|A4GALT_uc021wqq.1_Missense_Mutation_p.V112I	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	112					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TTCATCAGGACCAGCACGTGG	0.607000														141			8		0	0	0.008291	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015436	8015436	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:8015436G>A	uc002gka.3	-	5	1258	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	ALOXE3_uc010cnr.3_Silent_p.F253F|ALOXE3_uc010vuo.2_Silent_p.F385F|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	253	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TATGGCACCAGAAGATGTTCT	0.532000														147			7		0	0	0.003080	0	0
CREB5	9586	broad.mit.edu	37	7	28610108	28610108	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:28610108G>A	uc003szq.3	+	4	807	c.417G>A	c.(415-417)caG>caA	p.Q139Q	CREB5_uc003szo.3_Silent_p.Q106Q|CREB5_uc003szr.3_Silent_p.Q132Q	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	139					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGTCGCCTCAGTCCAGCTCTG	0.617000														429			22		0	0	0.012319	0	0
DOCK1	1793	broad.mit.edu	37	10	129224221	129224221	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr10:129224221C>T	uc010qun.2	+	46	4924	c.4860C>T	c.(4858-4860)gcC>gcT	p.A1620A	DOCK1_uc001ljt.3_Silent_p.A1599A|DOCK1_uc009yaq.3_Silent_p.A594A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1599					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGATGGAGGCCTGTTTCAAAC	0.517000														218			10		0	0	0.006214	0	0
OR51F2	119694	broad.mit.edu	37	11	4843090	4843090	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:4843090G>A	uc010qyn.2	+	0	475	c.475G>A	c.(475-477)Ggg>Agg	p.G159R		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCAAGATTGGGATGAGCAT	0.463000														177			11		0	0	0.013537	0	0
AGPAT5	55326	broad.mit.edu	37	8	6599221	6599221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:6599221C>T	uc003wqo.3	+	4	847	c.535C>T	c.(535-537)Cca>Tca	p.P179S	AGPAT5_uc011kwm.2_Intron	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	179					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AAGGTATAATCCAGAGCAAAC	0.338000														120			5		0	0	0.021553	0	0
WIF1	11197	broad.mit.edu	37	12	65462650	65462650	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:65462650C>T	uc001ssk.3	-	3	807	c.432G>A	c.(430-432)caG>caA	p.Q144Q		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	144	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCACCCCATCCTGTTTTCCAA	0.358000			T	HMGA2	pleomorphic salivary gland adenoma									58			4		0	0	0.014758	0	0
RGS6	9628	broad.mit.edu	37	14	72976951	72976951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:72976951G>A	uc001xna.4	+	13	1578	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	RGS6_uc021rvv.1_Missense_Mutation_p.R317Q|RGS6_uc010ttn.2_Missense_Mutation_p.R352Q|RGS6_uc021rvw.1_Missense_Mutation_p.R352Q|RGS6_uc021rvx.1_Missense_Mutation_p.R352Q|RGS6_uc021rvy.1_Missense_Mutation_p.R315Q|RGS6_uc021rvz.1_Missense_Mutation_p.R315Q|RGS6_uc001xmy.4_Missense_Mutation_p.R352Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R352Q|RGS6_uc021rwa.1_Missense_Mutation_p.R315Q|RGS6_uc021rwb.1_Missense_Mutation_p.R315Q|RGS6_uc010ttp.1_Missense_Mutation_p.R283Q|RGS6_uc021rwc.1_Missense_Mutation_p.R213Q	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	352	RGS.				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)		CAGTTTCTACGATTCCTGGAG	0.473000														161			9		0	0	0.006214	0	0
HMHA1	23526	broad.mit.edu	37	19	1079932	1079932	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:1079932G>A	uc002lqz.1	+	12	1749	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	HMHA1_uc010xgd.1_Silent_p.T522T|HMHA1_uc010xge.1_Silent_p.T346T|HMHA1_uc002lra.1_Silent_p.T346T|HMHA1_uc002lrb.1_Silent_p.T389T|HMHA1_uc002lrc.1_Silent_p.T141T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	506					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGCCACGATCTCCTACT	0.677000														115			8		0	0	0.008291	0	0
FTH1	2495	broad.mit.edu	37	11	61732984	61732984	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:61732984A>G	uc001nsu.3	-	1	353	c.118T>C	c.(118-120)Tac>Cac	p.Y40H		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	40	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCAAAGTAGTAAGACTGAAAG	0.473000														92			5		0	0	0.014758	0	0
PLCB4	5332	broad.mit.edu	37	20	9438063	9438063	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:9438063G>A	uc021wam.1	+	29	2978	c.2963G>A	c.(2962-2964)gGa>gAa	p.G988E	PLCB4_uc010gbw.1_Missense_Mutation_p.G988E|PLCB4_uc010gbx.3_Missense_Mutation_p.G1000E|PLCB4_uc021wal.1_Missense_Mutation_p.G988E|PLCB4_uc002wnh.3_Missense_Mutation_p.G835E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	988					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						ATTTTCAGGGGAAGTAATTGT	0.348000														49			4		0	0	0.014758	0	0
CLDN11	5010	broad.mit.edu	37	3	170150390	170150390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:170150390C>T	uc003fgx.3	+	2	672	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.S73F	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	157					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGGCTACTCCCTGTATGCA	0.602000														92			5		0	0	0.021553	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525801	176525801	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:176525801C>T	uc001gkz.3	+	1	1507	c.343C>T	c.(343-345)Cca>Tca	p.P115S	PAPPA2_uc001gky.1_Missense_Mutation_p.P115S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	115					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACTGAAAATCCAGCAGGACT	0.547000														183			6		0	0	0.021553	0	0
PCDH18	54510	broad.mit.edu	37	4	138453224	138453224	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:138453224T>G	uc003ihe.4	-	0	406	c.19A>C	c.(19-21)Aaa>Caa	p.K7Q	PCDH18_uc003ihf.4_5'UTR|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	7					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTGCATTTTAGCATTCATT	0.388000														76			4		0	0	0.001984	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995415	57995415	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:57995415G>A	uc010rkd.2	-	0	976	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CTGCTTTACGGATAATGGCAC	0.493000														201			6		0	0	0.003080	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39382370	39382370	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr22:39382370C>T	uc003awo.1	+	3	576	c.522C>T	c.(520-522)ttC>ttT	p.F174F	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F174F|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	174					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GGTACAAATTCGATGAAAATT	0.478000														129			6		0	0	0.001984	0	0
GRM2	2912	broad.mit.edu	37	3	51747031	51747031	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:51747031C>T	uc010hlv.3	+	2	1232	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	331					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCTCCTACTTCCAGAGCCTGG	0.632000														43			4		0	0	0.009096	0	0
INPP4B	8821	broad.mit.edu	37	4	143235881	143235881	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:143235881G>A	uc003iix.4	-	8	1002	c.407C>T	c.(406-408)cCc>cTc	p.P136L	INPP4B_uc003iiw.4_Missense_Mutation_p.P136L|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	136	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P136L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTGGCGGGGGATCCTTATG	0.448000														127			6		0	0	0.021553	0	0
LTF	4057	broad.mit.edu	37	3	46479551	46479551	+	Missense_Mutation	SNP	G	A	A	rs148227142		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:46479551G>A	uc003cpq.3	-	15	2219	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	LTF_uc003fzr.3_Missense_Mutation_p.L616F|LTF_uc010hjh.3_Missense_Mutation_p.L658F|LTF_uc003cpr.3_Missense_Mutation_p.L647F	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	660	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TTGAACAGAAGGTTTTTGGTT	0.433000														165			10		0	0	0.010729	0	0
LRFN5	145581	broad.mit.edu	37	14	42356630	42356630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:42356630C>T	uc001wvm.3	+	2	2000	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	LRFN5_uc010ana.3_Missense_Mutation_p.L268F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	268	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTCCACTTTTAACTGG	0.453000										HNSCC(30;0.082)				129			6		0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10323365	10323365	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:10323365C>T	uc002gmm.2	-	2	275	c.180G>A	c.(178-180)ggG>ggA	p.G60G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	60	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGTTACTTTCCCTCCTTCTT	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					256			9		0	0	0.008291	0	0
GRID2	2895	broad.mit.edu	37	4	94693356	94693356	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:94693356C>T	uc011cdt.2	+	15	2989	c.2731C>T	c.(2731-2733)Cca>Tca	p.P911S	GRID2_uc011cdu.2_Missense_Mutation_p.P816S	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	911					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	p.P911S(2)		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)	TGACACTTTGCCAACACGACA	0.463000														109			5		0	0	0.014758	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673373	141673373	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:141673373C>T	uc003vwx.1	-	0	201	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	39					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)					CCCAAAAATTCACCAAGAAAA	0.493000														76			6		0	0	0.021553	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030295	95030295	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:95030295C>T	uc010avd.3	+	1	861	c.587C>T	c.(586-588)aCc>aTc	p.T196I	SERPINA4_uc001ydk.3_Missense_Mutation_p.T159I|SERPINA4_uc001ydl.3_Missense_Mutation_p.T159I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	159					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGAATGACACCATGGCCGTC	0.532000														92			5		0	0	0.001984	0	0
LILRA1	11024	broad.mit.edu	37	19	55107142	55107142	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:55107142C>T	uc002qgh.1	+	5	882	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LILRA1_uc010yfg.1_Missense_Mutation_p.P232S|LILRA1_uc010yfh.2_Missense_Mutation_p.P234S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	234	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGCCAGGTCCTATAGTGGC	0.537000														109			5		0	0	0.001984	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692542	8692542	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:8692542C>T	uc001quo.1	-	2	203	c.38_splice	c.e2-1	p.E13_splice		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	13						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGCATCCTCTCTCTGTAGAAA	0.403000														126			5		0	0	0.014758	0	0
LPPR1	54886	broad.mit.edu	37	9	104032238	104032238	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr9:104032238G>A	uc004bbb.3	+	2	539	c.140G>A	c.(139-141)gGa>gAa	p.G47E	LPPR1_uc011lvi.2_Missense_Mutation_p.G23E|LPPR1_uc004bbc.3_Missense_Mutation_p.G47E|LPPR1_uc010mtc.3_Missense_Mutation_p.G31E	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	47						integral to membrane	catalytic activity										CATATCCAAGGATTCTTCTGT	0.502000														69			6		0	0	0.021553	0	0
RGPD5	84220	broad.mit.edu	37	2	113147662	113147662	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:113147662G>A	uc002ths.2	-	19	3052	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	RGPD5_uc010fkk.2_Missense_Mutation_p.R814W|RGPD5_uc002tht.1_Missense_Mutation_p.R205W	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	954					intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						CCCTTCTTCCGGCCCCTAATA	0.413000														259			10		0	0	0.006214	0	0
RGS7	6000	broad.mit.edu	37	1	240975259	240975259	+	Silent	SNP	G	A	A	rs114051974	by1000genomes	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:240975259G>A	uc001hyt.2	-	6	591	c.537C>T	c.(535-537)ttC>ttT	p.F179F	RGS7_uc010pyh.2_Silent_p.F321F|RGS7_uc010pyj.1_Silent_p.F263F|RGS7_uc001hyu.2_Silent_p.F347F|RGS7_uc009xgn.1_Silent_p.F294F|RGS7_uc001hyv.2_Silent_p.F347F|RGS7_uc001hyw.2_Silent_p.F347F	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	347					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|protein binding|signal transducer activity	p.D178Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAAATTTAAGGAACTGTTCTC	0.418000														56			4		0	0	0.009096	0	0
ZPBP	11055	broad.mit.edu	37	7	50121463	50121463	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:50121463G>A	uc003tou.3	-	2	311	c.241C>T	c.(241-243)Cca>Tca	p.P81S	ZPBP_uc010kyw.3_Missense_Mutation_p.P81S	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	81					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AACACGTGTGGACTCTTTTGA	0.358000														45			4		0	0	0.009096	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768434	31768434	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr21:31768434C>T	uc002yoa.3	+	0	43	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	10						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGAAACTTCTCCTCCCGCT	0.537000														190			6		0	0	0.001984	0	0
ZXDA	7789	broad.mit.edu	37	X	57934541	57934541	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:57934541A>C	uc004dve.3	-	0	2527	c.2314T>G	c.(2314-2316)Ttt>Gtt	p.F772V		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	772					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGAATCCAAACTGGGTTTCT	0.453000														36			6		0	0	0.021553	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716270	153716271	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:153716270_153716271CC>TT	uc022cig.1	-	0	1009_1010	c.1009_1010GG>AA	c.(1009-1011)ggc>AAc	p.G337N	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.G308N|SLC10A3_uc004flq.3_Missense_Mutation_p.G337N|SLC10A3_uc004flp.3_Missense_Mutation_p.G337N	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	337					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GATCAGCACGCCCACGGCTATG	0.619000														48			4		0	0	0.004672	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870034	151870034	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:151870034C>T	uc022chf.1	+	0	724	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	MAGEA6_uc004ffq.1_Missense_Mutation_p.P242S|MAGEA6_uc004ffr.1_Missense_Mutation_p.P242S	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	242	MAGE.						protein binding	p.D241Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCGGGGATCCCAAGAAGCT	0.547000														107			9		0	0	0.008291	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:16059904C>T	uc010xov.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000														187			9		0	0	0.004482	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74901813	74901813	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:74901813G>A	uc001dge.2	+	19	2192	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.G709R|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.G608R	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	608	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GGCAGATTTTGGAGGTGAGAT	0.373000														91			7		0	0	0.004482	0	0
MYD88	4615	broad.mit.edu	37	3	38182688	38182688	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:38182688C>T	uc003chx.3	+	4	1049	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	MYD88_uc011ayi.2_Silent_p.L281L|MYD88_uc011ayj.2_3'UTR|MYD88_uc011ayk.2_3'UTR|MYD88_uc011ayl.2_Silent_p.L236L	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	268	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity	p.V286_T294del(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCCAGCATCCTGAGGTTCAT	0.557000			Mis		ABC-DLBCL									112			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9026227	9026227	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:9026227C>T	uc002mkp.3	-	13	36963	c.36759G>A	c.(36757-36759)agG>agA	p.R12253R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12255	SEA 2.				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						TGTTGAACTTCCTGGAGCCAG	0.562000														166			6		0	0	0.021553	0	0
CHRNA3	1136	broad.mit.edu	37	15	78885499	78885499	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:78885499C>T	uc002beb.3	-	5	1925	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA5_uc002bdy.3_Silent_p.F437F|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_001166694	NP_001160166	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 2, mRNA.	0					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTTCTTTTCGTTTCAATTG	0.318000														78			7		0	0	0.003080	0	0
C20orf152	140894	broad.mit.edu	37	20	34563906	34563906	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:34563906G>A	uc002xer.1	+	2	381	c.225G>A	c.(223-225)atG>atA	p.M75I	C20orf152_uc002xes.1_Missense_Mutation_p.M75I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	75										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TTGATACCATGGACTTCATTG	0.483000														85			6		0	0	0.001984	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919918	12919918	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:12919918C>T	uc001aum.1	+	2	745	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	220										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCACATCTGATAAGAAA	0.378000														115			6		0	0	0.021553	0	0
NLRP7	199713	broad.mit.edu	37	19	55450557	55450557	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:55450557G>A	uc002qih.4	-	3	1706	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	NLRP7_uc010esk.3_Missense_Mutation_p.P544S|NLRP7_uc002qig.4_Missense_Mutation_p.P544S|NLRP7_uc002qii.4_Missense_Mutation_p.P544S|NLRP7_uc010esl.3_Missense_Mutation_p.P572S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	544							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGATGTCCGGTGACATCCGG	0.512000														76			5		0	0	0.014758	0	0
CRYGB	1419	broad.mit.edu	37	2	209007617	209007617	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:209007617C>T	uc002vcp.4	-	2	306	c.273G>A	c.(271-273)atG>atA	p.M91I	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	91	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CGTAGATCTTCATTCTGTAAG	0.473000														133			5		0	0	0.004482	0	0
CSMD1	64478	broad.mit.edu	37	8	2813237	2813237	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:2813237C>T	uc022aqr.1	-	63	10258	c.9868G>A	c.(9868-9870)Gat>Aat	p.D3290N	CSMD1_uc011kwj.2_Missense_Mutation_p.D2620N|CSMD1_uc010lrg.3_Missense_Mutation_p.D1182N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3291	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)		GTAGGAAGATCGATGGCTCTC	0.473000														94			6		0	0	0.021553	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269887	150269887	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:150269887C>T	uc003whl.3	+	2	811	c.729C>T	c.(727-729)ctC>ctT	p.L243L	GIMAP4_uc011kuu.2_Silent_p.L104L|GIMAP4_uc011kuv.2_Silent_p.L257L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	243							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAAGAACTCCACAGAGTGG	0.483000														32			4		0	0	0.009096	0	0
CHD4	1108	broad.mit.edu	37	12	6707587	6707587	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:6707587G>A	uc001qpo.3	-	10	1651	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	CHD4_uc001qpn.3_Missense_Mutation_p.P489L|CHD4_uc001qpp.3_Missense_Mutation_p.P493L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	496	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTCAGAGCTGGACACTGAGA	0.502000														120			9		0	0	0.004482	0	0
C6	729	broad.mit.edu	37	5	41203303	41203303	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:41203303G>A	uc003jmk.2	-	1	240	c.30C>T	c.(28-30)atC>atT	p.I10I	C6_uc003jml.1_Silent_p.I10I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	10					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATTCAGCAGGATGAAGTACA	0.463000														99			5		0	0	0.021553	0	0
SULT2A1	6822	broad.mit.edu	37	19	48389444	48389444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:48389444C>T	uc002phr.2	-	0	211	c.71G>A	c.(70-72)aGa>aAa	p.R24K		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	24					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		ACGTACTTTTCTTAAGGTTTC	0.428000														109			8		0	0	0.004482	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414053	22414053	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:22414053C>A	uc001yuf.3	+	0	592	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGTGGAGCTTCTGATGGTCTT	0.507000														99			8		1.12685e-05	1.16659e-05	0.004482	1	0
DSE	29940	broad.mit.edu	37	6	116747888	116747888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:116747888G>A	uc011ebg.2	+	2	724	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	DSE_uc011ebf.1_Missense_Mutation_p.E190K|DSE_uc003pws.3_Missense_Mutation_p.E190K|DSE_uc003pwt.3_Missense_Mutation_p.E190K	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	190					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GTATATGTATGAAACTTCATA	0.448000														36			5		0	0	0.014758	0	0
NF1	4763	broad.mit.edu	37	17	29687605	29687605	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:29687605C>T	uc002hgg.3	+	56	8644	c.8261C>T	c.(8260-8262)tCc>tTc	p.S2754F	NF1_uc002hgh.3_Missense_Mutation_p.S2733F|NF1_uc010cso.3_Missense_Mutation_p.S942F|NF1_uc010wbt.1_Missense_Mutation_p.S232F|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2754					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.S2751fs*27(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGTGAAGAATCCCTCCTGACT	0.448000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				96			8		0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152277136	152277136	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152277136C>T	uc001ezu.1	-	2	10262	c.10226G>A	c.(10225-10227)cGa>cAa	p.R3409Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3409	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCGTCCAGTGCT	0.602000									Ichthyosis					214			8		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9090172	9090172	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:9090172G>A	uc002mkp.3	-	0	1847	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	548	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						TGATGCTGGGGGTCTCTCTGT	0.522000														62			4		0	0	0.014758	0	0
FURIN	5045	broad.mit.edu	37	15	91424025	91424025	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:91424025C>T	uc002bpu.1	+	13	1877	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	554					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ATTGAAAACACCAGCGAAGCC	0.562000														299			13		0	0	0.016723	0	0
KALRN	8997	broad.mit.edu	37	3	124153237	124153237	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:124153237C>T	uc003ehg.3	+	16	3034	c.2907C>T	c.(2905-2907)gcC>gcT	p.A969A	KALRN_uc010hrv.1_Silent_p.A960A|KALRN_uc003ehf.1_Silent_p.A969A|KALRN_uc011bjy.1_Silent_p.A960A|KALRN_uc003ehh.1_Silent_p.A315A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	969					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCTCCAGGCCGGCCACTACG	0.587000														41			4		0	0	0.009096	0	0
CARD11	84433	broad.mit.edu	37	7	2987263	2987263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:2987263C>T	uc003smv.3	-	2	500	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	56	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCATCTTCATCCTGCTCATCA	0.547000			Mis		DLBCL									106			7		0	0	0.001984	0	0
ZNF558	148156	broad.mit.edu	37	19	8922347	8922347	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:8922347G>A	uc002mkn.1	-	5	1049	c.819C>T	c.(817-819)ttC>ttT	p.F273F	ZNF558_uc010xkh.1_Silent_p.F202F|ZNF558_uc010dwg.1_Silent_p.F273F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ACCTTGTGCTGAAAGCTTTTC	0.458000														98			5		0	0	0.014758	0	0
TRPM4	54795	broad.mit.edu	37	19	49671280	49671280	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:49671280C>T	uc002pmw.3	+	3	482	c.374C>T	c.(373-375)tCg>tTg	p.S125L	TRPM4_uc010emu.3_Missense_Mutation_p.S125L|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	125					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGGGGGGATCGGGGGGCCCC	0.677000														139			10		0	0	0.006214	0	0
SCN11A	11280	broad.mit.edu	37	3	38968340	38968340	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:38968340G>A	uc021wvy.1	-	3	770	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	191					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGATCTCGAAGGAAAGAAAAC	0.368000														122			5		0	0	0.014758	0	0
PSG8	440533	broad.mit.edu	37	19	43258618	43258618	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:43258618C>T	uc002ouo.2	-	4	1208	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.G370G|PSG8_uc010ein.3_Silent_p.G248G|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	370	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTGAAACTTCCCATTAATTG	0.463000														258			15		0	0	0.006122	0	0
C3orf39	84892	broad.mit.edu	37	3	43122071	43122071	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:43122071C>T	uc003cmr.1	-	1	1196	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	C3orf39_uc003cmq.1_Missense_Mutation_p.G285S|C3orf39_uc021wwn.1_Missense_Mutation_p.G285S	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	285						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TACTCCTCGCCTAGGGGGACT	0.557000														78			4		0	0	0.009096	0	0
PDYN	5173	broad.mit.edu	37	20	1963712	1963712	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr20:1963712C>T	uc010gaj.3	-	1	261	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.V7I|PDYN_uc021vzt.1_Missense_Mutation_p.V7I|PDYN_uc021vzu.1_Missense_Mutation_p.V7I|PDYN_uc002wfv.3_Missense_Mutation_p.V7I	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	7					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGCCAGGACCAGCCCCTGC	0.552000														47			5		0	0	0.021553	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:20296445C>T	uc010tkv.2	+	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000														99			5		0	0	0.014758	0	0
SYTL5	94122	broad.mit.edu	37	X	37893191	37893191	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:37893191G>A	uc004ddx.3	+	0	405	c.49G>A	c.(49-51)Gag>Aag	p.E17K	SYTL5_uc004ddu.3_Missense_Mutation_p.E17K|SYTL5_uc004ddv.3_Missense_Mutation_p.E17K	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	17	RabBD.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATTAGATCATGAGAAGGAAAT	0.373000														25			4		0	0	0.009096	0	0
ATP11C	286410	broad.mit.edu	37	X	138820208	138820208	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:138820208C>T	uc004faz.3	-	27	3263	c.3164G>A	c.(3163-3165)aGa>aAa	p.R1055K	ATP11C_uc004fax.3_Missense_Mutation_p.R263K|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R1055K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	1055					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAAATACATTCTCTGTTGCTT	0.343000														30			8		0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21229891	21229891	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr2:21229891G>A	uc002red.3	-	25	9977	c.9849C>T	c.(9847-9849)ttC>ttT	p.F3283F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3283					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAGGATGGAGAAACTAGGCA	0.463000														538			18		0	0	0.007413	0	0
POP1	10940	broad.mit.edu	37	8	99146184	99146184	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr8:99146184C>T	uc003yij.4	+	5	843	c.743C>T	c.(742-744)tCc>tTc	p.S248F	POP1_uc011lgv.2_Missense_Mutation_p.S248F|POP1_uc003yik.3_Missense_Mutation_p.S248F	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	248					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAGGATTTATCCTATTACTGT	0.388000														86			6		0	0	0.001984	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917102	32917102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:32917102C>T	uc003ocm.2	-	3	813	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	243						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						ACGATGATGCCCAGCACACCC	0.587000														44			4		0	0	0.009096	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159782013	159782013	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:159782013G>A	uc003lyd.3	-	1	145	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	2	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCCAGGGGATCATGGTGG	0.632000														21			4		0	0	0.009096	0	0
NLRP4	147945	broad.mit.edu	37	19	56370010	56370010	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:56370010C>G	uc002qmd.4	+	2	1673	c.1251C>G	c.(1249-1251)gaC>gaG	p.D417E	NLRP4_uc002qmf.3_Missense_Mutation_p.D342E|NLRP4_uc010etf.3_Missense_Mutation_p.D248E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	417	NACHT.						ATP binding	p.D417D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTGTGAAGACGACCTCCGGA	0.587000														110			6		0	0	0.001984	0	0
PRKCZ	5590	broad.mit.edu	37	1	2082350	2082350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:2082350G>A	uc001aiq.3	+	8	970	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	PRKCZ_uc001air.3_Missense_Mutation_p.R87Q|PRKCZ_uc010nyw.2_Missense_Mutation_p.R166Q|PRKCZ_uc001ais.3_Missense_Mutation_p.R87Q|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc009vlb.3_Missense_Mutation_p.R83Q	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	270	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTCCTGGTGCGGTTGAAGAAG	0.557000														67			4		0	0	0.014758	0	0
GPR34	2857	broad.mit.edu	37	X	41555476	41555476	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrX:41555476G>A	uc022bvc.1	+	0	590	c.590G>A	c.(589-591)gGa>gAa	p.G197E	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.G197E|GPR34_uc004dfq.4_Missense_Mutation_p.G197E|GPR34_uc010nhg.3_Missense_Mutation_p.G197E|GPR34_uc004dfr.4_Missense_Mutation_p.G197E	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	197						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTTAAGAAAGGAGGGCATAAT	0.343000														19			3		0	0	0.004672	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491074	73491074	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:73491074G>A	uc010wsa.2	+	18	2909	c.2717G>A	c.(2716-2718)aGc>aAc	p.S906N	KIAA0195_uc002jnz.4_Missense_Mutation_p.S896N|KIAA0195_uc010wsb.2_Missense_Mutation_p.S536N|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	896					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCCTCCAGCCCCAGCCAC	0.622000														101			8		0	0	0.003080	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684045	113684045	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:113684045G>A	uc003eax.3	-	16	2915	c.2768C>T	c.(2767-2769)tCa>tTa	p.S923L		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	923								p.S923L(2)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CCAAGTATCTGATTGCTGATA	0.428000														86			5		0	0	0.021553	0	0
FFAR3	2865	broad.mit.edu	37	19	35862375	35862375	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr19:35862375C>T	uc021usn.1	+	0	119	c.114C>T	c.(112-114)gtC>gtT	p.V38V		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	38						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCCTGGTGGTCTTCGTGGGCA	0.642000														52			5		0	0	0.001984	0	0
TNS4	84951	broad.mit.edu	37	17	38643407	38643407	+	Missense_Mutation	SNP	C	T	T	rs150836111	byFrequency	TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:38643407C>T	uc010cxb.3	-	3	1333	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	390					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCCTGGGGTCCGCTGGGGTGG	0.617000														203			8		0	0	0.003080	0	0
OSMR	9180	broad.mit.edu	37	5	38869197	38869197	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:38869197C>T	uc003jln.2	+	1	453	c.51C>T	c.(49-51)tcC>tcT	p.S17S	OSMR_uc003jlm.2_Silent_p.S17S	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	17					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CATTGCTGTCCTTGAGGACTT	0.348000														77			5		0	0	0.021553	0	0
MCHR2	84539	broad.mit.edu	37	6	100368900	100368900	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:100368900G>A	uc003pqh.1	-	5	1254	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MCHR2_uc003pqi.1_Silent_p.F313F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	313						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACGTTTCTGGAAATTTCCAC	0.438000														119			9		0	0	0.008291	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														154			8		0	0	0.003080	0	0
HECW1	23072	broad.mit.edu	37	7	43436449	43436449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:43436449G>A	uc003tid.1	+	6	1197	c.592G>A	c.(592-594)Gga>Aga	p.G198R	HECW1_uc011kbi.1_Missense_Mutation_p.G198R|HECW1_uc003tie.1_Missense_Mutation_p.G230R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACCGTCCAAGGACAAGGAAG	0.418000														70			6		0	0	0.021553	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														30			8		0	0	0.024245	0	0
SH3TC2	79628	broad.mit.edu	37	5	148422290	148422290	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr5:148422290C>T	uc003lpu.3	-	4	648	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_5'Flank|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.E159K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E51K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	166							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATATTGTTTCCAGGTGTTTA	0.438000														67			5		0	0	0.021553	0	0
RHBDL1	9028	broad.mit.edu	37	16	727045	727045	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr16:727045G>A	uc002cis.1	+	2	723	c.696G>A	c.(694-696)aaG>aaA	p.K232K	RHBDL1_uc002cir.1_Silent_p.K167K|RHBDL1_uc010uun.1_Silent_p.K167K	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	232					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				AGTACATGAAGAGCCCCCTTG	0.622000														43			4		0	0	0.014758	0	0
PYGO1	26108	broad.mit.edu	37	15	55838810	55838810	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:55838810G>A	uc002adf.1	-	2	671	c.671C>T	c.(670-672)cCt>cTt	p.P224L	PYGO1_uc010bfl.1_Missense_Mutation_p.P224L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	224	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTTTGGGGGAGGAATAAAAGA	0.378000														89			5		0	0	0.014758	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	A	A	rs112083427		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:170871052G>A	uc003qxu.3	+	2	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(8)|p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000														28			7		0	0	0.001984	0	0
PCDH18	54510	broad.mit.edu	37	4	138450896	138450896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:138450896G>A	uc003ihe.4	-	0	2734	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	PCDH18_uc003ihf.4_Missense_Mutation_p.P776S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P563S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	783					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTAAGGTAGGAGATGAAGAT	0.507000														44			5		0	0	0.021553	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:197404165G>A	uc001gtz.3	+	8	3381	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1058	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(2)		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						AGTGGACAACGAAACACCTTT	0.443000														67			6		0	0	0.021553	0	0
TAP2	6891	broad.mit.edu	37	6	32782883	32782883	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:32782883G>A	uc011dqf.1	-	12	2242	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	TAP2_uc003oca.3_Missense_Mutation_p.A100V|TAP2_uc011dqg.1_Missense_Mutation_p.A100V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										CCCATCCACGGCCTGTCTGCT	0.592000														42			4		0	0	0.009096	0	0
HDAC11	79885	broad.mit.edu	37	3	13544405	13544405	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr3:13544405T>C	uc003bxy.3	+	7	707	c.574T>C	c.(574-576)Ttc>Ctc	p.F192L	HDAC11_uc010heb.3_Silent_p.T149T|HDAC11_uc011aux.2_5'UTR|HDAC11_uc011auy.2_Missense_Mutation_p.F141L	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	192	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TGAGCGAGACTTCATGGACGA	0.612000														255			7		0	0	0.003080	0	0
MEGF11	84465	broad.mit.edu	37	15	66262970	66262970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr15:66262970C>T	uc002apm.2	-	7	961	c.820G>A	c.(820-822)Gat>Aat	p.D274N	MEGF11_uc002apl.2_Missense_Mutation_p.D199N|MEGF11_uc002apn.1_Missense_Mutation_p.D274N	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	274	EGF-like 5.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CAAGGACAATCCTGGCTGCAG	0.552000														31			3		0	0	0.004672	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:79689912C>T	uc001sys.3	+	7	1209	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(2)|p.P180L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000														66			4		0	0	0.009096	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059079	152059079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152059079G>A	uc001ezo.1	-	2	1144	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	360							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGGGTCTCAGATGTTCTGCC	0.423000														212			7		0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161162437	161162437	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:161162437G>A	uc003qtm.4	+	16	2225	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	705	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACTGGCTGGGGAGAAACCCA	0.458000														50			5		0	0	0.021553	0	0
ATXN1	6310	broad.mit.edu	37	6	16326840	16326840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:16326840G>A	uc003nbt.3	-	7	2673	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	ATXN1_uc010jpi.3_Missense_Mutation_p.P568S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	568	AXH.|Interaction with USP7.|RNA-binding.|Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCAGCGTAGGGGGAGCCGCC	0.612000														75			4		0	0	0.009096	0	0
NPSR1	387129	broad.mit.edu	37	7	34888237	34888237	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:34888237C>T	uc003teh.1	+	7	1115	c.987C>T	c.(985-987)atC>atT	p.I329I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.I329I|NPSR1_uc010kwt.1_Silent_p.I176I|NPSR1_uc010kwu.1_Silent_p.I119I|NPSR1_uc010kwv.1_Silent_p.I263I|NPSR1_uc003tei.1_Silent_p.I329I|NPSR1_uc010kww.1_Silent_p.I318I|NPSR1_uc011kar.1_Silent_p.I263I	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	329						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCCCCTCATCTACTGTGTCT	0.517000														154			7		0	0	0.003080	0	0
YWHAE	7531	broad.mit.edu	37	17	1264404	1264404	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr17:1264404G>A	uc002fsj.3	-	3	712	c.560C>T	c.(559-561)tCc>tTc	p.S187F	YWHAE_uc002fsk.3_Missense_Mutation_p.S165F|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	187					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ACGGTCAGGGGAATTAAGAAT	0.483000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome							70			6		0	0	0.003080	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236885	55236885	+	Missense_Mutation	SNP	C	T	T	rs146324552		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr14:55236885C>T	uc001xbb.3	+	7	1965	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	SAMD4A_uc001xbc.3_Missense_Mutation_p.R466W|SAMD4A_uc001xbg.2_Missense_Mutation_p.R145W	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	554					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.R553W(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAGCTCTTTCGGTCTTTCCC	0.423000														91			6		0	0	0.021553	0	0
TIE1	7075	broad.mit.edu	37	1	43777469	43777469	+	Silent	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:43777469G>A	uc001ciu.3	+	9	1638	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	TIE1_uc010okd.2_Silent_p.Q487Q|TIE1_uc010oke.2_Silent_p.Q442Q|TIE1_uc009vwq.3_Silent_p.Q443Q|TIE1_uc010okf.1_Silent_p.Q132Q|TIE1_uc010okg.2_Silent_p.Q132Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	487	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGCCCCAGGACAGTACCA	0.607000														80			5		0	0	0.021553	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160470	9160470	+	RNA	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chrY:9160470C>T	uc004frl.1	-	0		c.14G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		GATGATCTGCCTCTACCATTG	0.333000														30			3		0	0	0.004672	0	0
NELL2	4753	broad.mit.edu	37	12	45105149	45105149	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr12:45105149G>A	uc010skz.1	-	11	1390	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	NELL2_uc001rof.3_Missense_Mutation_p.S371L|NELL2_uc001rog.2_Missense_Mutation_p.S372L|NELL2_uc001roh.2_Missense_Mutation_p.S372L|NELL2_uc009zkd.2_Missense_Mutation_p.S371L|NELL2_uc010sla.1_Missense_Mutation_p.S395L|NELL2_uc001roi.1_Missense_Mutation_p.S372L|NELL2_uc010slb.1_Missense_Mutation_p.S371L|NELL2_uc001roj.2_Missense_Mutation_p.S372L	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	372	EGF-like 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGACAGCCTGAACTCTCAAC	0.388000														40			4		0	0	0.014758	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241404	60241404	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr18:60241404G>A	uc002lip.4	+	12	2090	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.G167E	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	697					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTTCACTAGGAAATGAGAAT	0.423000														142			11		0	0	0.013537	0	0
IGSF22	283284	broad.mit.edu	37	11	18745706	18745706	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr11:18745706C>T	uc009yht.2	-	1	268	c.78G>A	c.(76-78)caG>caA	p.Q26Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	26										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						GGGAGAAGGTCTGCACGTGGG	0.602000														124			7		0	0	0.001984	0	0
TSSK3	81629	broad.mit.edu	37	1	32829396	32829396	+	Missense_Mutation	SNP	C	T	T	rs138699524		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:32829396C>T	uc001bvf.3	+	1	787	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	116	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGCCCTCTTCCGTCAGATGGT	0.597000														95			7		0	0	0.001984	0	0
ALPK1	80216	broad.mit.edu	37	4	113346825	113346825	+	Silent	SNP	C	T	T			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr4:113346825C>T	uc003ian.4	+	6	767	c.540C>T	c.(538-540)acC>acT	p.T180T	ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Silent_p.T180T|ALPK1_uc011cfx.2_Silent_p.T102T|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	180							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTTAGGTACCTGGCTGTACA	0.388000														112			5		0	0	0.021553	0	0
RPTN	126638	broad.mit.edu	37	1	152127905	152127905	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:152127905G>A	uc001ezs.1	-	2	1735	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	557	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S557S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCGTAGTGGGAACTCTGGCC	0.517000														561			18		0	0	0.007413	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	4	---	---	2	---					
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	-	-	rs1134580		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr1:26608878_26608883delCCGGGA	uc001blw.3	-	15	1743_1748	c.1470_1475delTCCCGG	c.(1468-1476)ggtcccggc>ggc	p.490_492GPG>G	UBXN11_uc001bly.3_In_Frame_Del_p.370_372GPG>G|UBXN11_uc001blz.1_In_Frame_Del_p.457_459GPG>G|UBXN11_uc001blx.3_In_Frame_Del_p.248_250GPG>G|UBXN11_uc001bma.3_In_Frame_Del_p.457_459GPG>G	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													---	38	---	---	7	---					
HLA-C	3107	broad.mit.edu	37	6	31324737	31324737	+	Frame_Shift_Del	DEL	G	-	-	rs41563916		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr6:31324737delG	uc021yum.1	-	0	220	c.104delC	c.(103-105)ccafs	p.P35fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nth.2_Intron|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank			Q9TNN7	1C05_HUMAN	SubName: Full=Major histocompatibility complex, class I, B; Flags: Fragment;	0	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGGGAGCCTGGGGGTGAGGA	0.721													---	6	---	---	3	---					
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	Splice_Site	DEL	A	-	-	rs112122477		TCGA-ER-A19A-06A-21D-A197-08	TCGA-ER-A19A-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53983b06-67c9-4a3d-bd9e-08638e257a95	7e84ded3-0af1-4d76-95db-479d5f5a23e3	g.chr7:149515189delA	uc010lpk.3	+	80	11568	c.11568_splice	c.e80+2	p.E3856_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3859	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													---	10	---	---	10	---					
