Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MSC	9242	broad.mit.edu	37	8	72756001	72756001	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:72756001G>C	ENST00000325509.4	-	1	702	c.413C>G	c.(412-414)cCc>cGc	p.P138R	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	138	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGTGTCGGGGGGCACCCAGGG	0.652000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	73					0	0	0.000978	0	0
ZNF543	125919	broad.mit.edu	37	19	57839478	57839478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:57839478G>C	ENST00000321545.4	+	4	993	c.648G>C	c.(646-648)caG>caC	p.Q216H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	216					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)		TCCTTGTTCAGCATGAACGGA	0.438000													21	60					0	0	0.001882	0	0
APLF	200558	broad.mit.edu	37	2	68753263	68753263	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:68753263A>G	ENST00000303795.4	+	6	864	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	231					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAACCCAGCAAGGAAGAAGGC	0.363000													14	61					0	0	0.002450	0	0
RXFP3	51289	broad.mit.edu	37	5	33938224	33938224	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:33938224A>T	ENST00000330120.3	+	1	1734	c.1379A>T	c.(1378-1380)tAc>tTc	p.Y460F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	460						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGGGGGCGCTACGACCTGCTG	0.726000													4	40					0	0	0.000248	0	0
C20orf26	26074	broad.mit.edu	37	20	20258060	20258060	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:20258060C>A	ENST00000245957.5	+	22	2830	c.2754C>A	c.(2752-2754)gcC>gcA	p.A918A	C20orf26_ENST00000377309.2_Silent_p.A274A	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	918										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTACAGCGCCTCCTTCACCA	0.622000													8	111					0.000274275	0.000456617	0.004482	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782644	115782644	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:115782644A>T	ENST00000343348.6	-	19	3545	c.2758T>A	c.(2758-2760)Tac>Aac	p.Y920N	SEMA6A_ENST00000257414.8_Missense_Mutation_p.Y937N|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Y397N|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Y920N|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Y299N|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Y347N	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	920					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTCGTGGGGTAGCTCCTCTTA	0.562000													9	55					0	0	0.006214	0	0
FSCB	84075	broad.mit.edu	37	14	44975841	44975841	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:44975841A>C	ENST00000340446.4	-	1	641	c.350T>G	c.(349-351)aTt>aGt	p.I117S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	117						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTTTGGTGGAATTTCTACATC	0.433000													6	195					0	0	0.001168	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283039	69283039	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:69283039T>A	ENST00000338352.2	+	1	699	c.665T>A	c.(664-666)cTg>cAg	p.L222Q		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	222	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CAGCTGGAGCTGAGGGCCCTG	0.612000													14	23					0	0	0.003163	0	0
GCC1	79571	broad.mit.edu	37	7	127223156	127223156	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:127223156T>A	ENST00000321407.2	-	2	1664	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	414						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGGACCTGCTGGAGGCTGCT	0.552000													12	100					0	0	0.001855	0	0
DROSHA	29102	broad.mit.edu	37	5	31448686	31448686	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:31448686T>C	ENST00000511367.2	-	22	3094	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	DROSHA_ENST00000344624.3_Silent_p.S950S|DROSHA_ENST00000442743.1_Silent_p.S913S|DROSHA_ENST00000513349.1_Silent_p.S913S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	950	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCCAAGGCGTGACATGATAT	0.313000													5	78					0	0	0.000602	0	0
OR14C36	127066	broad.mit.edu	37	1	248512576	248512576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248512576G>T	ENST00000317861.1	+	1	500	c.500G>T	c.(499-501)tGt>tTt	p.C167F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTGCCCTTCTGTCGGTCCAAC	0.502000													8	77					0.000157383	0.000267462	0.003080	1	0
KIAA1244	57221	broad.mit.edu	37	6	138610962	138610962	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:138610962A>G	ENST00000251691.4	+	18	3070	c.2904A>G	c.(2902-2904)ctA>ctG	p.L968L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	968					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGTGAAACTAAAAGTGGAGC	0.478000													6	17					0	0	0.001168	0	0
MRPL43	84545	broad.mit.edu	37	10	102747076	102747076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:102747076C>T	ENST00000318325.2	-	1	178	c.125G>A	c.(124-126)gGc>gAc	p.G42D	MRPL43_ENST00000477279.1_Missense_Mutation_p.G42D|MRPL43_ENST00000370242.4_Missense_Mutation_p.G42D|MRPL43_ENST00000370234.4_Missense_Mutation_p.G42D|MRPL43_ENST00000370236.1_Missense_Mutation_p.G42D|MRPL43_ENST00000370241.3_Missense_Mutation_p.G42D|MRPL43_ENST00000342071.1_Missense_Mutation_p.G42D|MRPL43_ENST00000318364.8_Missense_Mutation_p.G42D|MRPL43_ENST00000299179.5_Missense_Mutation_p.G42D	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	42					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCACCTGGCGCCGCGAGACGA	0.682000													4	27					0	0	0.000248	0	0
SCN3A	6328	broad.mit.edu	37	2	165947652	165947652	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:165947652T>C	ENST00000360093.3	-	28	5502	c.5011A>G	c.(5011-5013)Atc>Gtc	p.I1671V	SCN3A_ENST00000283254.7_Missense_Mutation_p.I1671V|SCN3A_ENST00000540861.1_Missense_Mutation_p.I154V|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1622V|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1671						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCCCAAAGATGGCATAGATA	0.458000													20	128					0	0	0.008871	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823007	38823007	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:38823007C>A	ENST00000303592.3	-	2	1389	c.1131G>T	c.(1129-1131)ctG>ctT	p.L377L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	377					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCATAAGGGCCAGCTCGTTCT	0.701000													5	70					0.00198382	0.00319043	0.001984	1	0
KDM2A	22992	broad.mit.edu	37	11	66985245	66985245	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:66985245A>G	ENST00000529006.2	+	9	1177	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y244C|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	244	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTGGAGCTGTACGAGAATTGG	0.512000													6	19					0	0	0.001168	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006766	58006766	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:58006766G>T	ENST00000286494.4	+	2	611	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G90C	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	51					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCTGCCTCCGGTCTGGCTGC	0.622000													10	74					5.50884e-06	1.00659e-05	0.001368	1	0
UNC5A	90249	broad.mit.edu	37	5	176295216	176295216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:176295216C>A	ENST00000329542.4	+	3	652	c.378C>A	c.(376-378)tgC>tgA	p.C126*	UNC5A_ENST00000261961.3_Nonsense_Mutation_p.C86*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	126	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCCAGTGCGTGGCATGGA	0.652000													23	102					2.79863e-10	6.0047e-10	0.004656	1	0
SYCP2L	221711	broad.mit.edu	37	6	10961580	10961580	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:10961580G>C	ENST00000283141.6	+	27	2594	c.2298G>C	c.(2296-2298)gaG>gaC	p.E766D		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	766						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTCTTCAAGAGTTGAGCAGTC	0.393000													4	34					0	0	0.000248	0	0
TTLL9	164395	broad.mit.edu	37	20	30525240	30525240	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:30525240G>A	ENST00000375938.4	+	13	1299	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	TTLL9_ENST00000310998.4_Missense_Mutation_p.S314N|TTLL9_ENST00000375922.4_Missense_Mutation_p.S291N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_Silent_p.Q225Q|TTLL9_ENST00000535842.1_Missense_Mutation_p.S349N			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	349	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGACAGCCAGCAGCCAGGAA	0.582000													8	41					0	0	0.004482	0	0
LILRB3	11025	broad.mit.edu	37	19	54725719	54725719	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:54725719G>C	ENST00000391750.1	-	5	775	c.639C>G	c.(637-639)ccC>ccG	p.P213P	LILRB3_ENST00000245620.9_Silent_p.P213P|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Silent_p.P213P|LILRB3_ENST00000407860.2_Silent_p.P213P|LILRB3_ENST00000424807.1_Silent_p.P213P|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	213	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAATCTCCAGGGGGTCACTGG	0.587000													30	93					0	0	0.005524	0	0
RNF138	51444	broad.mit.edu	37	18	29704800	29704800	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:29704800G>A	ENST00000261593.3	+	6	1011	c.553G>A	c.(553-555)Gtt>Att	p.V185I	RNF138_ENST00000257190.5_Missense_Mutation_p.V91I	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	185					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATTTCAGATAGTTCCTGTGGT	0.363000													9	25					0	0	0.004482	0	0
F2R	2149	broad.mit.edu	37	5	76029214	76029214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:76029214C>A	ENST00000319211.4	+	2	1429	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	388					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTTATGCTGCAAAGAAAGTT	0.443000													28	91					2.4375e-19	5.87483e-19	0.007291	1	0
ARMC9	80210	broad.mit.edu	37	2	232121319	232121319	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:232121319C>T	ENST00000349938.4	+	10	1094	c.900C>T	c.(898-900)gcC>gcT	p.A300A	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	300							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGTTACGAGCCTCCTTGGCAC	0.428000													11	38					0	0	0.001368	0	0
FAIM3	9214	broad.mit.edu	37	1	207087300	207087300	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:207087300A>T	ENST00000367091.3	-	2	320	c.177T>A	c.(175-177)ggT>ggA	p.G59G	FAIM3_ENST00000420007.2_Silent_p.G59G|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	59	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					ATACCACGGTACCACATGTTC	0.512000													43	143					0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10534949	10534949	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:10534949C>A	ENST00000583535.1	-	36	5352	c.5265G>T	c.(5263-5265)aaG>aaT	p.K1755N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1755N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1755					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTCTTGGCCTTCTCCTCAG	0.567000											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					1.12685e-05	2.03014e-05	0.004482	1	0
IGFBP1	3484	broad.mit.edu	37	7	45930252	45930252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:45930252G>A	ENST00000275525.3	+	2	751	c.455G>A	c.(454-456)tGg>tAg	p.W152*	IGFBP1_ENST00000457280.1_Nonsense_Mutation_p.W152*|IGFBP1_ENST00000468955.1_Nonsense_Mutation_p.W152*	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	152						extracellular space	insulin-like growth factor binding	p.W152S(1)		large_intestine(2)|lung(4)	6						TCCATCCTTTGGGACGCCATC	0.537000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	105					0	0	0.001984	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49033264	49033264	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:49033264C>G	ENST00000376317.3	-	8	1337	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.E347Q|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.E334Q	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	415				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GGCGCTAACTCTGTGCTGGTG	0.622000													4	17					0	0	0.000248	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639367	20639367	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:20639367C>T	ENST00000525748.1	+	7	1470	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	399					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TAGCTCTCTGCCTCTTCCTGG	0.478000													7	136					0	0	0.003080	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915007	94915007	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:94915007G>T	ENST00000334708.3	-	2	169	c.105C>A	c.(103-105)ccC>ccA	p.P35P	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	35					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GATGCCTGGGGGGTTGAGGCC	0.562000													23	144					1.10923e-09	2.32447e-09	0.002780	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714365	70714365	+	RNA	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:70714365C>A	ENST00000530196.1	-	0	153					NR_003951.1																						ACTAGGGTCCCATCCACTGCC	0.532000													33	83					4.31634e-10	9.17349e-10	0.002445	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3582905	3582905	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:3582905G>T	ENST00000550383.1	-	11	1426	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	P2RX5_ENST00000547178.1_Missense_Mutation_p.P412Q|P2RX5_ENST00000435558.1_Missense_Mutation_p.P413Q|P2RX5_ENST00000552276.1_Missense_Mutation_p.P412Q|P2RX5_ENST00000345901.3_Missense_Mutation_p.P389Q|P2RX5_ENST00000225328.5_Missense_Mutation_p.P413Q|P2RX5_ENST00000552050.1_Missense_Mutation_p.P353Q|P2RX5_ENST00000551178.1_Missense_Mutation_p.P388Q																							CAGGAGCTGTGGGCACACAGA	0.672000													8	30					0.000274275	0.000456617	0.004482	1	0
OR5M3	219482	broad.mit.edu	37	11	56237417	56237417	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:56237417G>C	ENST00000312240.2	-	1	597	c.557C>G	c.(556-558)gCc>gGc	p.A186G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCCAGCACAGGCCATTTTGAT	0.398000													24	80					0	0	0.003330	0	0
FRRS1	391059	broad.mit.edu	37	1	100176440	100176440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:100176440C>A	ENST00000414213.1	-	15	2147	c.1546G>T	c.(1546-1548)Gca>Tca	p.A516S	FRRS1_ENST00000287474.5_Missense_Mutation_p.A516S			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	516	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CCGGTCATTGCATAGGTTTTC	0.438000													5	52					3.59834e-05	6.30586e-05	0.001168	1	0
AGBL2	79841	broad.mit.edu	37	11	47707521	47707521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:47707521C>A	ENST00000525123.1	-	11	1997	c.1712G>T	c.(1711-1713)tGt>tTt	p.C571F	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.C571F|AGBL2_ENST00000528244.1_Missense_Mutation_p.C533F|AGBL2_ENST00000298861.4_Missense_Mutation_p.C571F	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	571					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTTGTTATTACAGCCATACAG	0.368000													17	66					3.41278e-10	7.27036e-10	0.004990	1	0
RNF213	57674	broad.mit.edu	37	17	78318885	78318885	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:78318885C>T	ENST00000582970.1	+	29	6893	c.6750C>T	c.(6748-6750)ttC>ttT	p.F2250F	RNF213_ENST00000508628.2_Silent_p.F2299F|RNF213_ENST00000336301.6_Silent_p.F323F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAAGAAGTTCGTGGTGACCT	0.502000													9	134					0	0	0.001368	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432850	104432850	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:104432850C>G	ENST00000361820.3	-	3	2444	c.1844G>C	c.(1843-1845)gGg>gCg	p.G615A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	615					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACCCACTAGCCCAGTCCAGTG	0.488000													11	40					0	0	0.000978	0	0
MINK1	50488	broad.mit.edu	37	17	4789760	4789760	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:4789760T>C	ENST00000355280.6	+	10	984	c.788T>C	c.(787-789)aTt>aCt	p.I263T	MINK1_ENST00000347992.7_Missense_Mutation_p.I263T|MINK1_ENST00000453408.3_Missense_Mutation_p.I263T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	263	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AAGAAGTTCATTGACTTCATT	0.557000													44	107					0	0	0.003610	0	0
MYPN	84665	broad.mit.edu	37	10	69957149	69957149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:69957149C>A	ENST00000358913.5	+	16	3687	c.3199C>A	c.(3199-3201)Cag>Aag	p.Q1067K	MYPN_ENST00000540630.1_Missense_Mutation_p.Q1067K|MYPN_ENST00000354393.2_Missense_Mutation_p.Q792K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1067	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGAGCCCCTACAGGAACGCTT	0.458000													21	87					2.89027e-11	6.30668e-11	0.002299	1	0
PPM1G	5496	broad.mit.edu	37	2	27607796	27607796	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:27607796G>A	ENST00000344034.4	-	5	833	c.569C>T	c.(568-570)gCa>gTa	p.A190V	PPM1G_ENST00000350803.4_Missense_Mutation_p.A190V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	190					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGGTCCTGCCTCCCCATT	0.592000													11	125					0	0	0.001855	0	0
SHC4	399694	broad.mit.edu	37	15	49118221	49118221	+	Nonsense_Mutation	SNP	T	T	A	rs149166908		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:49118221T>A	ENST00000332408.4	-	12	2268	c.1840A>T	c.(1840-1842)Aaa>Taa	p.K614*	SHC4_ENST00000396535.3_Nonsense_Mutation_p.K371*|SHC4_ENST00000537958.1_Nonsense_Mutation_p.K328*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	614	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACTGGTTGTTTAAGGCTTACT	0.393000													15	99					0	0	0.004007	0	0
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642000													17	115					0	0	0.001523	0	0
DCHS2	54798	broad.mit.edu	37	4	155156786	155156786	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:155156786C>T	ENST00000357232.3	-	25	7652	c.7653G>A	c.(7651-7653)ctG>ctA	p.L2551L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2551					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGATGAGTATCAGAAACACTA	0.383000													9	23					0	0	0.006214	0	0
KCNK17	89822	broad.mit.edu	37	6	39271737	39271737	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:39271737C>A	ENST00000453413.2	-	4	824	c.684G>T	c.(682-684)gtG>gtT	p.V228V	KCNK17_ENST00000373231.4_Silent_p.V228V	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	228						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TCTCACCAATCACGTAGTCGC	0.622000													9	75					0.000978159	0.00160176	0.000978	1	0
TENM1	10178	broad.mit.edu	37	X	123654437	123654437	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:123654437A>T	ENST00000422452.2	-	18	3294	c.3231T>A	c.(3229-3231)ctT>ctA	p.L1077L	TENM1_ENST00000371130.3_Silent_p.L1077L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATGTGTAGACAAGATTAATTG	0.448000													16	61					0	0	0.004990	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846209	47846209	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:47846209T>A	ENST00000339488.4	-	3	2404	c.2371A>T	c.(2371-2373)Act>Tct	p.T791S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	791						integral to membrane	hedgehog receptor activity										CAACCCCCAGTGAGCAGCAAG	0.428000													4	32					0	0	0.000248	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609539	31609539	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:31609539C>A	ENST00000170150.3	+	15	1464	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	423						extracellular region	lipid binding										CTCTCTTGGCCATGGGAATTG	0.582000													7	79					1.12685e-05	2.03014e-05	0.004482	1	0
ZBTB20	26137	broad.mit.edu	37	3	114069274	114069274	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:114069274T>A	ENST00000462705.1	-	11	2253	c.1432A>T	c.(1432-1434)Act>Tct	p.T478S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.T478S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T478S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T478S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T478S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T551S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T478S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCTGTGCAGTAAAGGTCGAC	0.622000													8	103					0	0	0.003080	0	0
PEG3	5178	broad.mit.edu	37	19	57325341	57325341	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:57325341G>T	ENST00000326441.9	-	10	4832	c.4469C>A	c.(4468-4470)cCa>cAa	p.P1490Q	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P1364Q|PEG3_ENST00000423103.2_Missense_Mutation_p.P1490Q|PEG3_ENST00000598410.1_Missense_Mutation_p.P1366Q|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1490	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACCTTCTTCTGGGTCTTCAAT	0.488000													21	160					1.01871e-10	2.2068e-10	0.008871	1	0
SLC9A2	6549	broad.mit.edu	37	2	103299823	103299823	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:103299823A>G	ENST00000233969.2	+	4	1250	c.1108A>G	c.(1108-1110)Agc>Ggc	p.S370G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	370						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGCAGTGTCAGCGAAACCTT	0.473000													16	64					0	0	0.004007	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539909	133539909	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:133539909T>A	ENST00000409261.1	-	14	4848	c.4475A>T	c.(4474-4476)aAg>aTg	p.K1492M	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K1492M|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1492							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAGGTGGGCTTTGTTTGCAC	0.493000													11	72					0	0	0.008291	0	0
GCNT2	2651	broad.mit.edu	37	6	10529521	10529521	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:10529521T>C	ENST00000379597.3	+	1	933	c.377T>C	c.(376-378)gTg>gCg	p.V126A	GCNT2_ENST00000495262.1_Missense_Mutation_p.V126A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	126						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTCTACTGTGTGCACCTGGAT	0.488000													16	74					0	0	0.004990	0	0
SEPT7	989	broad.mit.edu	37	7	35930323	35930323	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:35930323T>C	ENST00000494488.2	+	10	876	c.876T>C	c.(874-876)taT>taC	p.Y292Y	SEPT7_ENST00000350320.6_Silent_p.Y305Y|SEPT7_ENST00000399035.3_Silent_p.Y305Y|SEPT7_ENST00000399034.2_Silent_p.Y307Y|SEPT7_ENST00000435235.1_Silent_p.Y253Y|SEPT7_ENST00000432293.2_Intron			Q16181	SEPT7_HUMAN	septin 7	306					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ATGTCCACTATGAGAACTACA	0.348000													6	31					0	0	0.001168	0	0
C1orf101	257044	broad.mit.edu	37	1	244724029	244724029	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:244724029C>T	ENST00000366534.4	+	10	1143	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.S363S|C1orf101_ENST00000366531.3_Silent_p.S212S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	363						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACCTCGGATCCATTCTTCTTA	0.383000													12	45					0	0	0.001368	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543154	133543154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:133543154C>G	ENST00000409261.1	-	14	1603	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K410N|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	410							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACACTTTTCGCTTCTGTAGCT	0.403000													13	69					0	0	0.002450	0	0
CCDC87	55231	broad.mit.edu	37	11	66357994	66357994	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:66357994C>A	ENST00000333861.3	-	1	2560	c.2493G>T	c.(2491-2493)tcG>tcT	p.S831S		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	831										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTTCAGGGCCGAGACCAGGT	0.572000													13	214					1.61879e-10	3.4983e-10	0.001368	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105365603	105365603	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:105365603C>T	ENST00000369774.4	-	14	1656	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	SH3PXD2A_ENST00000540321.1_Silent_p.Q327Q|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.Q432Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.Q295Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	460	SH3 3.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AAATGCACGACTGGAATTCGG	0.532000											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					0	0	0.001523	0	0
ZNF92	168374	broad.mit.edu	37	7	64863388	64863388	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:64863388G>T	ENST00000328747.7	+	4	560	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	ZNF92_ENST00000357512.2_Missense_Mutation_p.D89Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.D52Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.D45Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TAAAAGTGTGGATGCATGTAA	0.343000													5	66					3.59834e-05	6.30586e-05	0.001168	1	0
TACR3	6870	broad.mit.edu	37	4	104579428	104579428	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:104579428C>A	ENST00000304883.2	-	2	821	c.681G>T	c.(679-681)atG>atT	p.M227I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TACGGCCTGGCATGACTTTGG	0.403000													18	32					1.50039e-11	3.28988e-11	0.001882	1	0
CDH19	28513	broad.mit.edu	37	18	64211444	64211444	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:64211444G>T	ENST00000262150.2	-	7	1270	c.978C>A	c.(976-978)caC>caA	p.H326Q	CDH19_ENST00000540086.1_Missense_Mutation_p.H326Q	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	326	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGTGGTTCTGGTGCTCAAAAT	0.373000													7	36					5.18039e-06	9.58266e-06	0.003080	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34093306	34093306	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:34093306A>G	ENST00000341394.4	+	3	439	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.K3E|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.K84E|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.K84E|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.K84E	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	84					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACGAATGAACAAAGGGGAAAG	0.313000													4	31					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152506707	152506707	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:152506707C>G	ENST00000397345.3	-	54	7616	c.7414G>C	c.(7414-7416)Gcc>Ccc	p.A2472P	NEB_ENST00000427231.2_Missense_Mutation_p.A2472P|NEB_ENST00000409198.1_Missense_Mutation_p.A2472P|NEB_ENST00000604864.1_Missense_Mutation_p.A2472P|NEB_ENST00000172853.10_Missense_Mutation_p.A2472P|NEB_ENST00000603639.1_Missense_Mutation_p.A2472P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2472					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTATTTTTGGCATTTGTCTTT	0.398000													5	45					0	0	0.001168	0	0
CORIN	10699	broad.mit.edu	37	4	47765540	47765540	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:47765540G>C	ENST00000273857.4	-	4	472	c.473C>G	c.(472-474)cCt>cGt	p.P158R	CORIN_ENST00000508498.1_Missense_Mutation_p.P19R|CORIN_ENST00000505909.1_Missense_Mutation_p.P158R|CORIN_ENST00000504584.1_Missense_Mutation_p.P158R|CORIN_ENST00000502252.1_Missense_Mutation_p.P91R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	158	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGAGAGGAGAGGTGTCAGCGT	0.473000													5	110					0	0	0.001984	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478593	21478593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:21478593G>T	ENST00000281523.2	-	5	1060	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	181	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGTCGTTGGGCTTTTTTC	0.473000													11	109					3.86212e-05	6.75495e-05	0.008291	1	0
ZNF202	7753	broad.mit.edu	37	11	123601246	123601246	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:123601246T>A	ENST00000336139.4	-	3	713	c.351A>T	c.(349-351)gcA>gcT	p.A117A	ZNF202_ENST00000530393.1_Silent_p.A117A|ZNF202_ENST00000529691.1_Silent_p.A117A			O95125	ZN202_HUMAN	zinc finger protein 202	117	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCAGCGTCACTGCCTCCTCGC	0.577000													23	71					0	0	0.003954	0	0
IGLON5	402665	broad.mit.edu	37	19	51826949	51826949	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:51826949C>A	ENST00000270642.8	+	3	192	c.192C>A	c.(190-192)gcC>gcA	p.A64A		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	64	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CCCGCGTGGCCTGGCTGAACC	0.642000													5	18					0.000602214	0.000993378	0.000602	1	0
FBXL3	26224	broad.mit.edu	37	13	77581777	77581777	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:77581777G>A	ENST00000355619.5	-	5	1114	c.790C>T	c.(790-792)Cct>Tct	p.P264S	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	264					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTCTGTCCAGGATTCTCACTG	0.373000													6	31					0	0	0.001168	0	0
SPTB	6710	broad.mit.edu	37	14	65252649	65252649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:65252649C>A	ENST00000389722.3	-	16	3635	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	SPTB_ENST00000556626.1_Missense_Mutation_p.L1194F|SPTB_ENST00000389721.5_Missense_Mutation_p.L1194F|SPTB_ENST00000542895.1_Missense_Mutation_p.L1194F|SPTB_ENST00000389720.3_Missense_Mutation_p.L1194F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1194					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGGGGGCTCCAAGTGAGCCA	0.547000													18	121					3.99206e-14	9.2022e-14	0.007413	1	0
DNTT	1791	broad.mit.edu	37	10	98078223	98078223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:98078223G>A	ENST00000419175.1	+	2	488	c.318G>A	c.(316-318)tgG>tgA	p.W106*	DNTT_ENST00000371174.2_Nonsense_Mutation_p.W106*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	106	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.W106*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATGTCTCCTGGCTGATCGAAT	0.478000													14	104					0	0	0.002450	0	0
OC90	729330	broad.mit.edu	37	8	133053916	133053916	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:133053916T>A	ENST00000262283.5	-	8	887	c.788A>T	c.(787-789)cAg>cTg	p.Q263L	OC90_ENST00000603859.1_Missense_Mutation_p.Q67L|OC90_ENST00000254627.3_Missense_Mutation_p.Q67L|OC90_ENST00000443356.2_Missense_Mutation_p.Q67L			Q02509	OC90_HUMAN	otoconin 90	67					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGACAGCCTGCAGCCAGGT	0.587000													14	18					0	0	0.004007	0	0
RRP1B	23076	broad.mit.edu	37	21	45113111	45113111	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr21:45113111G>C	ENST00000340648.4	+	16	2241	c.2124G>C	c.(2122-2124)acG>acC	p.T708T		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	708					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCAGTCCCACGGGCCCTTCTC	0.577000													5	46					0	0	0.001168	0	0
LAMB4	22798	broad.mit.edu	37	7	107746314	107746314	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:107746314T>A	ENST00000388781.3	-	8	901	c.818A>T	c.(817-819)gAa>gTa	p.E273V	LAMB4_ENST00000414450.2_Missense_Mutation_p.E273V|LAMB4_ENST00000388780.3_Missense_Mutation_p.E273V|LAMB4_ENST00000205386.4_Missense_Mutation_p.E273V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	273	Laminin EGF-like 1.				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						AGGGCGACATTCGCTAGCATG	0.468000													29	50					0	0	0.008361	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	17					8.12818e-05	0.000140254	0.001984	1	0
PMP22	5376	broad.mit.edu	37	17	15134345	15134345	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:15134345C>A	ENST00000395938.2	-	5	566	c.372G>T	c.(370-372)tgG>tgT	p.W124C	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Missense_Mutation_p.W124C|PMP22_ENST00000494511.1_Missense_Mutation_p.A65S	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	124					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGTTGAGATGCCACTCCGGGT	0.602000													10	49					0.000442599	0.000735484	0.006214	1	0
ANKRD27	84079	broad.mit.edu	37	19	33106614	33106614	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:33106614C>G	ENST00000306065.4	-	22	2283	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	709					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGACAGAATTCGGGGTCCGCT	0.547000													5	73					0	0	0.001168	0	0
ATP5A1	498	broad.mit.edu	37	18	43671703	43671703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:43671703T>A	ENST00000593152.2	-	3	643	c.104A>T	c.(103-105)cAt>cTt	p.H35L	ATP5A1_ENST00000398752.6_Missense_Mutation_p.H85L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.H85L|ATP5A1_ENST00000590665.1_Missense_Mutation_p.H85L	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	85					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.H85R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CCTCAGCCCATGTACGCGGGC	0.393000													5	81					0	0	0.000602	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305340	61305340	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:61305340A>G	ENST00000341074.5	-	8	901	c.786T>C	c.(784-786)acT>acC	p.T262T	SERPINB4_ENST00000356424.6_Silent_p.T210T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTCTCAGCAGTGAGTTTCT	0.368000													4	54					0	0	0.000248	0	0
TCL1A	8115	broad.mit.edu	37	14	96180314	96180314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:96180314C>A	ENST00000402399.1	-	1	219	c.90G>T	c.(88-90)aaG>aaT	p.K30N	RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.K30N|TCL1A_ENST00000554012.1_Missense_Mutation_p.K30N|TCL1A_ENST00000556450.1_Missense_Mutation_p.K30N|RP11-164H13.1_ENST00000547644.2_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	30					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGGCGTGCTGCTTCTCGTCCA	0.657000			T	TRA@	T-CLL								14	79					3.52763e-06	6.57955e-06	0.004990	1	0
IRAK2	3656	broad.mit.edu	37	3	10276333	10276333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:10276333G>T	ENST00000256458.4	+	11	1553	c.1463G>T	c.(1462-1464)aGc>aTc	p.S488I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	488	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|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|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CGTAACACCAGCCTGCAGGAG	0.711000													10	20					1.33987e-11	2.95231e-11	0.008291	1	0
TNPO3	23534	broad.mit.edu	37	7	128626910	128626910	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:128626910T>A	ENST00000393245.1	-	12	2038	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	TNPO3_ENST00000482320.1_Missense_Mutation_p.K455N|TNPO3_ENST00000265388.5_Missense_Mutation_p.K521N|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Missense_Mutation_p.K555N	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	521					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TATGAATGGCTTTGGCTGCAG	0.488000													36	82					0	0	0.005524	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714142	138714142	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:138714142T>G	ENST00000389532.4	-	11	2429	c.2365A>C	c.(2365-2367)Agc>Cgc	p.S789R	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S511R|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S800R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	789						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCGGCCGCTGGCGTCATCT	0.572000													46	119					0	0	0.003610	0	0
CROCC	9696	broad.mit.edu	37	1	17266418	17266418	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:17266418G>A	ENST00000375541.5	+	13	1707	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	546					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCAAGCCAGGACCTACTGG	0.667000													12	86					0	0	0.001368	0	0
ASXL3	80816	broad.mit.edu	37	18	31323638	31323638	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:31323638G>C	ENST00000269197.5	+	12	3826	c.3826G>C	c.(3826-3828)Gct>Cct	p.A1276P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1276	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACAATTTCTGCTTGTAATAT	0.393000													11	59					0	0	0.000978	0	0
C20orf26	26074	broad.mit.edu	37	20	20177351	20177351	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:20177351G>A	ENST00000245957.5	+	16	1804	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	576										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTTCTGAAGGAGATCCTGC	0.473000													23	67					0	0	0.003330	0	0
OLIG2	10215	broad.mit.edu	37	21	34399194	34399194	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr21:34399194G>T	ENST00000333337.3	+	1	952	c.24G>T	c.(22-24)gtG>gtT	p.V8V	AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Silent_p.V8V|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	8						cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CCAGCCTGGTGTCCAGCCGCC	0.662000			T	TRA@	T-ALL								9	45					9.70103e-10	2.04724e-09	0.008291	1	0
UNC13C	440279	broad.mit.edu	37	15	54916114	54916114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:54916114C>A	ENST00000545554.1	+	31	6321	c.6321C>A	c.(6319-6321)agC>agA	p.S2107R	UNC13C_ENST00000539562.2_Missense_Mutation_p.S28R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S2105R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S2107R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2107	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAACAAAAAGCAACACATGGT	0.423000													14	78					1.49906e-05	2.67392e-05	0.002450	1	0
GREB1	9687	broad.mit.edu	37	2	11720967	11720967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:11720967G>T	ENST00000389825.3	+	6	891	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S	GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000234142.5_Intron|GREB1_ENST00000263834.5_Intron			Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	304						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGGTAGCTCTGCCTGTCCTGG	0.617000													6	38					4.096e-09	8.46507e-09	0.001168	1	0
KCNT2	343450	broad.mit.edu	37	1	196227378	196227378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:196227378C>A	ENST00000367433.5	-	25	3186	c.3085G>T	c.(3085-3087)Gct>Tct	p.A1029S	KCNT2_ENST00000294725.8_Missense_Mutation_p.A1053S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A987S|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1053						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACAAGTTCAGCAAGCTCTTGT	0.403000													18	78					2.94398e-08	5.86838e-08	0.007413	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182384	140182384	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:140182384G>A	ENST00000522353.2	+	1	1602	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	PCDHA3_ENST00000532566.2_Silent_p.Q534Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGTTCCAGGTGAGTGCGC	0.672000													16	141					0	0	0.004990	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190447	9190447	+	Missense_Mutation	SNP	A	A	C	rs148001955		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:9190447A>C	ENST00000382496.5	-	11	1870	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	402	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CACGTGGGAAAAGCGGCTATT	0.557000													3	73					0	0	0.000248	0	0
FOLH1	2346	broad.mit.edu	37	11	49175861	49175861	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:49175861C>A	ENST00000340334.7	-	17	2130	c.1762G>T	c.(1762-1764)Gtt>Ttt	p.V588F	FOLH1_ENST00000343844.4_Missense_Mutation_p.V295F|FOLH1_ENST00000256999.2_Missense_Mutation_p.V603F|FOLH1_ENST00000356696.3_Missense_Mutation_p.V603F|FOLH1_ENST00000533034.1_Missense_Mutation_p.V588F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	603					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTTCTTAAAACTACAGCATAA	0.393000													12	61					3.07112e-06	5.73999e-06	0.000978	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359088	64359088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:64359088G>T	ENST00000377574.1	+	1	807	c.60G>T	c.(58-60)caG>caT	p.Q20H	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.Q20H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.Q20H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.Q20H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	20					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGGTTCTCCAGACGATGGCTC	0.617000													16	109					2.4624e-09	5.12429e-09	0.008871	1	0
TRPM4	54795	broad.mit.edu	37	19	49671653	49671653	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:49671653G>T	ENST00000252826.5	+	5	711	c.585G>T	c.(583-585)cgG>cgT	p.R195R	TRPM4_ENST00000427978.2_Silent_p.R195R|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	195					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|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)		GTGTGGTCCGGAATAGAGACA	0.647000													6	51					0.00198382	0.00319043	0.001984	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763404	92763404	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:92763404C>A	ENST00000318238.4	-	5	3097	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V	SAMD9L_ENST00000437805.1_Silent_p.V627V|SAMD9L_ENST00000411955.1_Silent_p.V627V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	627										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGACCGAGTCACCGATTTTA	0.393000													46	92					2.9001e-28	7.12348e-28	0.003610	1	0
OR8I2	120586	broad.mit.edu	37	11	55861007	55861007	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:55861007C>T	ENST00000302124.2	+	1	255	c.224C>T	c.(223-225)tCt>tTt	p.S75F	OR8I2_ENST00000560768.1_Missense_Mutation_p.S75F			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTACTCCTCTACTGTAACA	0.393000													25	153					0	0	0.002780	0	0
FAM120B	84498	broad.mit.edu	37	6	170626880	170626880	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:170626880C>T	ENST00000476287.1	+	2	510	c.402C>T	c.(400-402)ccC>ccT	p.P134P	FAM120B_ENST00000540480.1_Silent_p.P146P|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.P157P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	134					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TCTTCATCCCCTCAGGGCTAG	0.463000													12	63					0	0	0.001368	0	0
NFASC	23114	broad.mit.edu	37	1	204955212	204955212	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:204955212G>A	ENST00000367172.4	+	23	3089	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	NFASC_ENST00000360049.4_Missense_Mutation_p.E917K|NFASC_ENST00000539706.1_Missense_Mutation_p.E917K|NFASC_ENST00000513543.1_Missense_Mutation_p.E917K|NFASC_ENST00000367170.4_Missense_Mutation_p.E921K|NFASC_ENST00000367171.4_Missense_Mutation_p.E906K|NFASC_ENST00000338515.6_Missense_Mutation_p.E921K|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.E921K|NFASC_ENST00000404076.1_Missense_Mutation_p.E900K|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.E917K			O94856	NFASC_HUMAN	neurofascin	921	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTCGCAGTGAGACCAAGGA	0.612000													8	30					0	0	0.006214	0	0
SV2C	22987	broad.mit.edu	37	5	75621369	75621369	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:75621369G>T	ENST00000502798.2	+	13	2623	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	727					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGGTTCTGATGTAATGGGAAA	0.507000													10	52					6.40141e-05	0.000111745	0.000978	1	0
UBA7	7318	broad.mit.edu	37	3	49848049	49848049	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:49848049C>A	ENST00000333486.3	-	12	1526	c.1368G>T	c.(1366-1368)ctG>ctT	p.L456L		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	456	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCCGGCCCCCAGTCCCACTA	0.602000													44	132					3.05275e-18	7.27963e-18	0.003214	1	0
PLXNA3	55558	broad.mit.edu	37	X	153693806	153693806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:153693806G>T	ENST00000369682.3	+	12	2459	c.2284G>T	c.(2284-2286)Gac>Tac	p.D762Y		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	762					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CACCGAGCTGGACTTCTCCGT	0.552000													26	30					1.42536e-11	3.133e-11	0.004656	1	0
VPS13D	55187	broad.mit.edu	37	1	12336516	12336516	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:12336516G>C	ENST00000358136.3	+	19	3001	c.2871G>C	c.(2869-2871)gcG>gcC	p.A957A	VPS13D_ENST00000356315.4_Silent_p.A957A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	957					protein localization			p.A957A(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCTCCTGGCGGAATTTAAAG	0.498000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	73					0	0	0.002450	0	0
GLP2R	9340	broad.mit.edu	37	17	9783735	9783735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:9783735G>T	ENST00000262441.5	+	11	1699	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	GLP2R_ENST00000574745.1_Missense_Mutation_p.V216F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	396					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTATTGGGCGTTCATGAGAT	0.403000													39	120					9.73076e-26	2.38364e-25	0.006999	1	0
C20orf197	284756	broad.mit.edu	37	20	58645825	58645825	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:58645825A>T	ENST00000313426.1	+	4	549	c.243A>T	c.(241-243)agA>agT	p.R81S		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	81										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			TGCAGTCAAGAGAGCTGGGAA	0.463000													12	36					0	0	0.001368	0	0
PCDH19	57526	broad.mit.edu	37	X	99597071	99597071	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:99597071C>A	ENST00000373034.4	-	5	4353	c.2678G>T	c.(2677-2679)aGc>aTc	p.S893I	PCDH19_ENST00000255531.7_Missense_Mutation_p.S846I|PCDH19_ENST00000420881.2_Splice_Site	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	893					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAAGGTGGAGCTGCTGGGTTG	0.468000													14	38					2.32078e-09	4.8408e-09	0.003163	1	0
PEX13	5194	broad.mit.edu	37	2	61258982	61258982	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:61258982A>G	ENST00000295030.4	+	2	559	c.521A>G	c.(520-522)cAc>cGc	p.H174R	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	174	Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TTGAAAATACACTTTACAAAA	0.403000													20	102					0	0	0.001523	0	0
OBSL1	23363	broad.mit.edu	37	2	220424026	220424026	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:220424026A>T	ENST00000404537.1	-	9	3203	c.3147T>A	c.(3145-3147)ccT>ccA	p.P1049P	OBSL1_ENST00000373876.1_Silent_p.P1049P|OBSL1_ENST00000265318.4_Silent_p.P1049P|OBSL1_ENST00000603926.1_Silent_p.P1049P|OBSL1_ENST00000265317.5_Silent_p.P40P|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1049	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCTGAGCAGCAGGTAGCACCA	0.627000													21	99					0	0	0.002299	0	0
GRM2	2912	broad.mit.edu	37	3	51749821	51749821	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:51749821T>C	ENST00000395052.3	+	4	2266	c.2032T>C	c.(2032-2034)Tca>Cca	p.S678P	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	678					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)	CAGTCCTGCCTCACAGGTGGC	0.657000													7	22					0	0	0.001984	0	0
ABCB1	5243	broad.mit.edu	37	7	87199518	87199518	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:87199518A>T	ENST00000265724.3	-	6	725	c.308T>A	c.(307-309)tTc>tAc	p.F103Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.F103Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	103	ABC transmembrane type-1 1.		F -> L (rare polymorphism).		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTCATGAAGAACCCTGTATC	0.308000													22	65					0	0	0.003954	0	0
C11orf16	56673	broad.mit.edu	37	11	8947390	8947390	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:8947390T>A	ENST00000326053.5	-	5	930	c.824A>T	c.(823-825)cAg>cTg	p.Q275L	C11orf16_ENST00000525780.1_Missense_Mutation_p.Q275L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	275										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCACAGTAGCTGGCAGCAGGC	0.597000													7	90					0	0	0.001984	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566271	155566271	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:155566271A>T	ENST00000295101.2	+	2	1336	c.859A>T	c.(859-861)Agc>Tgc	p.S287C	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	287					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATCCCAGCGAAGCATGCAAAC	0.433000													13	58					0	0	0.001368	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710933	14710933	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:14710933C>G	ENST00000547437.1	+	12	910	c.833C>G	c.(832-834)gCc>gGc	p.A278G	CLEC17A_ENST00000417570.1_Missense_Mutation_p.A278G|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A261G	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	278	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGGGATGAGGCCCGGATGTTC	0.522000													13	30					0	0	0.001368	0	0
ZIM2	23619	broad.mit.edu	37	19	57286357	57286357	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:57286357A>C	ENST00000391708.3	-	12	1825	c.1283T>G	c.(1282-1284)cTt>cGt	p.L428R	ZIM2_ENST00000599935.1_Missense_Mutation_p.L428R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L428R|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L428R|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.L428R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAGATGTTGAAGAAGATGCAC	0.453000													5	45					0	0	0.000602	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552704	106552704	+	RNA	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:106552704A>T	ENST00000390600.2	-	0	105																											AGCCAAAAGGAAAATCCAGCT	0.478000													13	99					0	0	0.001855	0	0
MIR892A	100126342	broad.mit.edu	37	X	145078238	145078238	+	RNA	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:145078238G>C	ENST00000401124.1	-	0	23					NR_030584.1																						TAAGTGACTGGCACCTTTCTG	0.517000													34	54					0	0	0.002836	0	0
NRXN2	9379	broad.mit.edu	37	11	64374793	64374793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:64374793G>T	ENST00000265459.6	-	23	5475	c.5014C>A	c.(5014-5016)Cag>Aag	p.Q1672K	NRXN2_ENST00000301894.2_Missense_Mutation_p.Q626K|NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1602K|NRXN2_ENST00000377551.1_Missense_Mutation_p.Q1672K|NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1665K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1672					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTCGGCTCTGGTCCACCTGG	0.607000													8	46					1.06961e-07	2.10412e-07	0.003080	1	0
SMG8	55181	broad.mit.edu	37	17	57288806	57288806	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:57288806A>T	ENST00000543872.2	+	2	1658	c.1394A>T	c.(1393-1395)gAg>gTg	p.E465V	SMG8_ENST00000578922.1_Missense_Mutation_p.E465V|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E465V			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	465					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGGAAAGAAGAGGACTTGGGG	0.418000													7	54					0	0	0.003080	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961291	51961291	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:51961291C>T	ENST00000321424.3	-	1	417	c.351G>A	c.(349-351)agG>agA	p.R117R	SIGLEC8_ENST00000430817.1_Silent_p.R117R|SIGLEC8_ENST00000340550.5_Silent_p.R117R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	117	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACCCCTTATCCCTCTTCCTGG	0.488000													14	160					0	0	0.003163	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94750059	94750059	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:94750059G>C	ENST00000289495.5	+	3	1780	c.1564G>C	c.(1564-1566)Ggt>Cgt	p.G522R	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G522R|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G522R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G522R|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G522R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G522R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	522	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTGGAATGGGTGTTGGAGC	0.413000										HNSCC(28;0.073)			9	119					0	0	0.006214	0	0
ZNF208	7757	broad.mit.edu	37	19	22156076	22156076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:22156076C>A	ENST00000397126.4	-	4	1908	c.1760G>T	c.(1759-1761)gGc>gTc	p.G587V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAAGCTTTGCCACATTCTTC	0.348000													6	33					8.12818e-05	0.000140254	0.001984	1	0
UNC79	57578	broad.mit.edu	37	14	94063867	94063867	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:94063867T>A	ENST00000553484.1	+	24	3507	c.3353T>A	c.(3352-3354)aTa>aAa	p.I1118K	UNC79_ENST00000256339.4_Missense_Mutation_p.I941K|UNC79_ENST00000555664.1_Missense_Mutation_p.I1118K|UNC79_ENST00000393151.2_Missense_Mutation_p.I1118K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1118						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTGACACCATAAAGAGGCCA	0.512000													6	28					0	0	0.001168	0	0
OR4K15	81127	broad.mit.edu	37	14	20443861	20443861	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:20443861A>C	ENST00000305051.5	+	1	259	c.184A>C	c.(184-186)Att>Ctt	p.I62L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATCTAGCAATTCTGTTGGG	0.433000													8	134					0	0	0.003080	0	0
KLK1	3816	broad.mit.edu	37	19	51327022	51327022	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:51327022G>T	ENST00000448701.2	-	0	21				KLK1_ENST00000301420.2_De_novo_Start_InFrame			P06870	KLK1_HUMAN	kallikrein 1						proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGTGTCCAGGGGCCAGCAG	0.647000													4	51					1.23904e-05	2.21451e-05	0.000602	1	0
DEFB115	245929	broad.mit.edu	37	20	29845557	29845557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:29845557C>A	ENST00000400552.1	+	1	91	c.91C>A	c.(91-93)Cca>Aca	p.P31T		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	31					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGACTGCCCCAGGTAAACA	0.493000													18	37					6.49762e-13	1.464e-12	0.006122	1	0
COL9A2	1298	broad.mit.edu	37	1	40770189	40770189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:40770189C>A	ENST00000372748.3	-	23	1270	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	392	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGACCCCTCTCGCCTTGGTCA	0.622000													5	32					0.00116845	0.00189609	0.001168	1	0
ADH1C	126	broad.mit.edu	37	4	100261852	100261852	+	RNA	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:100261852A>G	ENST00000515683.1	-	0	1195					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCATGACAACATAACAGGGAA	0.438000													15	130					0	0	0.002450	0	0
ADO	84890	broad.mit.edu	37	10	64565465	64565465	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:64565465G>T	ENST00000373783.1	+	1	950	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	216							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGACCCGGACGATGGCCGGGA	0.682000													5	16					2.0095e-06	3.81126e-06	0.001984	1	0
PI4KA	5297	broad.mit.edu	37	22	21088025	21088025	+	Splice_Site	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:21088025T>A	ENST00000255882.6	-	35	4245	c.4160_splice	c.e35+1	p.S1387_splice	PI4KA_ENST00000572273.1_Splice_Site_p.S1329_splice|PI4KA_ENST00000414196.3_Splice_Site_p.S139_splice	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1329					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGGAGTACCTGAAGTAGTCA	0.582000													12	90					0	0	0.003163	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833308	131833308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:131833308G>T	ENST00000359827.3	-	26	5720	c.4758C>A	c.(4756-4758)caC>caA	p.H1586Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H1586Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1586						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						TCACCTGGTAGTGGGCCAGTG	0.527000													7	77					1.06961e-07	2.10412e-07	0.003080	1	0
DDX60	55601	broad.mit.edu	37	4	169194528	169194528	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:169194528C>A	ENST00000393743.3	-	18	2767	c.2476G>T	c.(2476-2478)Gca>Tca	p.A826S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	826	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGAACAGTTGCTGCCACTTGA	0.403000													10	26					1.58986e-06	3.03458e-06	0.008291	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64722999	64722999	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:64722999C>A	ENST00000338957.4	+	5	2488	c.2421C>A	c.(2419-2421)atC>atA	p.I807I	ZC3H12B_ENST00000423889.3_Silent_p.I796I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	796							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCTAACATCGTCCTTGCAG	0.473000													7	19					0.000157383	0.000267462	0.003080	1	0
TBC1D21	161514	broad.mit.edu	37	15	74179999	74179999	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:74179999G>T	ENST00000300504.2	+	9	899	c.816G>T	c.(814-816)gtG>gtT	p.V272V	TBC1D21_ENST00000535547.2_Silent_p.V236V|TBC1D21_ENST00000562056.1_Silent_p.V235V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	272						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTCCAGGTGCTGGTGGCCT	0.627000													4	32					3.59834e-05	6.30586e-05	0.001168	1	0
TPSD1	23430	broad.mit.edu	37	16	1306531	1306531	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:1306531C>G	ENST00000211076.3	+	2	245	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	TPSD1_ENST00000397534.2_Missense_Mutation_p.L26V	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	33					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGGCCAGGCCCTGCAGCAAAC	0.706000													8	59					0	0	0.003080	0	0
IFI44L	10964	broad.mit.edu	37	1	79106711	79106711	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:79106711G>C	ENST00000370751.4	+	7	1233	c.1054G>C	c.(1054-1056)Gca>Cca	p.A352P	IFI44L_ENST00000342282.3_Missense_Mutation_p.A94P|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	352						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TATAGGTATAGCATATGTGGC	0.328000													3	88					0	0	0.004672	0	0
MLLT10	8028	broad.mit.edu	37	10	22015257	22015257	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:22015257A>G	ENST00000377072.3	+	16	2359	c.2011A>G	c.(2011-2013)Ata>Gta	p.I671V	MLLT10_ENST00000446906.2_Missense_Mutation_p.I655V|MLLT10_ENST00000307729.7_Missense_Mutation_p.I655V|MLLT10_ENST00000377059.3_Missense_Mutation_p.I655V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	671	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCAGCTCTTATAGCTCAGTC	0.348000			T	"""MLL, PICALM, CDK6"""	AL								4	239					0	0	0.000248	0	0
FOXJ3	22887	broad.mit.edu	37	1	42654511	42654511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:42654511C>A	ENST00000372572.1	-	13	1853	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H	FOXJ3_ENST00000545068.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000372573.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.Q480H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000372571.1_Missense_Mutation_p.Q28H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	514					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGTAAAGAACTGATTAAGAG	0.408000													18	62					1.02788e-11	2.27044e-11	0.004990	1	0
LARP1	23367	broad.mit.edu	37	5	154191138	154191138	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:154191138A>G	ENST00000336314.4	+	18	2812	c.2788A>G	c.(2788-2790)Att>Gtt	p.I930V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1007							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTTGGACATTGACCCCAA	0.458000													12	50					0	0	0.001855	0	0
OR51G2	81282	broad.mit.edu	37	11	4936008	4936008	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:4936008C>A	ENST00000322013.3	-	1	914	c.886G>T	c.(886-888)Gtc>Ttc	p.V296F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACTGTAGACAATGGGATTC	0.502000													9	33					0.00448238	0.00713214	0.004482	1	0
FAM109B	150368	broad.mit.edu	37	22	42473529	42473529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:42473529G>T	ENST00000321753.3	+	3	419	c.232G>T	c.(232-234)Gag>Tag	p.E78*		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	78	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGAACTGGCCGAGGCTCCCGT	0.657000													8	85					5.18039e-06	9.58266e-06	0.003080	1	0
HEPHL1	341208	broad.mit.edu	37	11	93754597	93754597	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:93754597G>A	ENST00000315765.9	+	1	71	c.63G>A	c.(61-63)ctG>ctA	p.L21L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	21					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTCTGGGCTGGTTGGCACAG	0.498000													18	107					0	0	0.004990	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182385	140182385	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:140182385G>T	ENST00000522353.2	+	1	1603	c.1603G>T	c.(1603-1605)Gtg>Ttg	p.V535L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.V535L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTTCCAGGTGAGTGCGCG	0.677000													16	142					3.41278e-10	7.27036e-10	0.004990	1	0
YTHDF1	54915	broad.mit.edu	37	20	61834126	61834126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:61834126C>A	ENST00000370339.3	-	4	1507	c.1166G>T	c.(1165-1167)gGg>gTg	p.G389V	YTHDF1_ENST00000370333.4_Missense_Mutation_p.G339V|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	389	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GAACACACGCCCGCTTTTCAG	0.532000													23	126					9.86323e-18	2.33959e-17	0.003954	1	0
SEMA3D	223117	broad.mit.edu	37	7	84628880	84628880	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:84628880C>T	ENST00000284136.6	-	17	2253	c.2210G>A	c.(2209-2211)aGg>aAg	p.R737K	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	737					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCGCTTCTCCCTGTGCCACAT	0.493000													4	76					0	0	0.000602	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222112	56222112	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:56222112T>G	ENST00000357606.3	-	3	620	c.331A>C	c.(331-333)Aac>Cac	p.N111H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.N111H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.N111H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	111					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCAGTCTCGTTTTCTTTTGAG	0.512000													28	320					0	0	0.006320	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412049	81412049	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:81412049C>T	ENST00000430430.1	+	3	2072	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	ZBTB10_ENST00000455036.3_Silent_p.L431L|ZBTB10_ENST00000379091.4_Silent_p.L139L|ZBTB10_ENST00000426744.2_Silent_p.L431L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	431	BTB.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCTGGTGCTCACAAGCCAAA	0.388000													52	54					0	0	0.003610	0	0
MED13	9969	broad.mit.edu	37	17	60043926	60043926	+	Silent	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:60043926T>G	ENST00000397786.2	-	19	4354	c.4278A>C	c.(4276-4278)ctA>ctC	p.L1426L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1426					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTTTTCTGATAGTTTCTTTG	0.398000													12	52					0	0	0.001368	0	0
PRDM14	63978	broad.mit.edu	37	8	70978559	70978559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:70978559C>A	ENST00000276594.2	-	5	1295	c.1094G>T	c.(1093-1095)tGg>tTg	p.W365L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	365	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTCTCCATACCACACAAGGAG	0.507000													33	46					5.8336e-16	1.3693e-15	0.003271	1	0
C1orf173	127254	broad.mit.edu	37	1	75037148	75037148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:75037148G>T	ENST00000326665.5	-	14	4464	c.4246C>A	c.(4246-4248)Cca>Aca	p.P1416T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1416	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGCTGCTGGCACTTCCTCC	0.557000													24	143					1.96895e-08	3.93352e-08	0.002780	1	0
CLCN1	1180	broad.mit.edu	37	7	143028407	143028407	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:143028407C>A	ENST00000343257.2	+	9	1149	c.1062C>A	c.(1060-1062)atC>atA	p.I354I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	354					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.I354I(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGCCATCGGGTCAGTGG	0.527000													25	50					5.45024e-15	1.26937e-14	0.003330	1	0
IFNL2	282616	broad.mit.edu	37	19	39760173	39760173	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:39760173C>G	ENST00000331982.5	+	4	371	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V		NM_172138.1	NP_742150.1			interferon, lambda 2																		GGCCCTGACGCTGAAGGTTCT	0.642000													5	47					0	0	0.001168	0	0
COX10	1352	broad.mit.edu	37	17	13980233	13980233	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:13980233A>T	ENST00000261643.3	+	3	436	c.359A>T	c.(358-360)gAa>gTa	p.E120V	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Missense_Mutation_p.E120V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	120					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GAATTGATAGAACTAGAGCCA	0.418000													11	28					0	0	0.008291	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144003	11144003	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:11144003A>T	ENST00000358026.2	+	26	3868	c.3584A>T	c.(3583-3585)cAg>cTg	p.Q1195L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1195L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1195	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGCATCGGGCAGCAGAACGAG	0.617000			"""F, N, Mis"""		NSCLC								5	51					0	0	0.000602	0	0
DLC1	10395	broad.mit.edu	37	8	12950276	12950276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:12950276G>T	ENST00000276297.4	-	13	3994	c.3585C>A	c.(3583-3585)gaC>gaA	p.D1195E	DLC1_ENST00000512044.2_Missense_Mutation_p.D792E|DLC1_ENST00000520226.1_Missense_Mutation_p.D684E|DLC1_ENST00000358919.2_Missense_Mutation_p.D758E|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1195	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCCGGTTCTCGTCAGGCAGCA	0.557000													6	21					8.12818e-05	0.000140254	0.001984	1	0
SSFA2	6744	broad.mit.edu	37	2	182779942	182779942	+	Splice_Site	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:182779942G>T	ENST00000431877.2	+	11	1754		c.e11-1		SSFA2_ENST00000409136.1_Splice_Site|SSFA2_ENST00000409001.1_Splice_Site|SSFA2_ENST00000320370.7_Splice_Site|SSFA2_ENST00000428267.2_Splice_Site	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2							cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTTTTCACAGGTTCAGGAGT	0.423000													11	68					1.58986e-06	3.03458e-06	0.008291	1	0
PPM1M	132160	broad.mit.edu	37	3	52282167	52282167	+	Splice_Site	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:52282167A>G	ENST00000296487.4	+	5	631		c.e5-1		PPM1M_ENST00000457351.2_Splice_Site|PPM1M_ENST00000409502.3_Splice_Site|PPM1M_ENST00000323588.4_Splice_Site			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M						protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		TCCTCAATCCAGGGCCATCTT	0.617000													5	11					0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	185986171	185986171	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:185986171T>C	ENST00000271588.4	+	33	5497	c.5268T>C	c.(5266-5268)tgT>tgC	p.C1756C	HMCN1_ENST00000367492.2_Silent_p.C1756C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1756	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCTAGATTGTCATGTGACAG	0.393000													4	96					0	0	0.000602	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318937	130318937	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:130318937G>T	ENST00000299164.2	+	1	69	c.69G>T	c.(67-69)cgG>cgT	p.R23R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	23					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCCAGAGCGGGAGGTAGTCG	0.662000													5	36					0.000602214	0.000993378	0.000602	1	0
CD1C	911	broad.mit.edu	37	1	158262391	158262391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:158262391C>G	ENST00000368170.3	+	4	895	c.616C>G	c.(616-618)Cca>Gca	p.P206A		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	206	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGCAGTGAGGCCAGAAGCCTG	0.493000													4	59					0	0	0.000248	0	0
SCAP	22937	broad.mit.edu	37	3	47469109	47469109	+	Silent	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:47469109C>G	ENST00000265565.5	-	5	871	c.459G>C	c.(457-459)ctG>ctC	p.L153L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	153					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCCTGGCAGCAGGTCGGTCA	0.587000													4	28					0	0	0.000248	0	0
GAS7	8522	broad.mit.edu	37	17	9821352	9821352	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:9821352T>A	ENST00000396115.1	-	13	1413	c.1103A>T	c.(1102-1104)cAg>cTg	p.Q368L	GAS7_ENST00000579158.1_Missense_Mutation_p.Q380L|GAS7_ENST00000323816.4_Missense_Mutation_p.Q364L|GAS7_ENST00000437099.2_Missense_Mutation_p.Q364L|GAS7_ENST00000540214.1_Missense_Mutation_p.Q133L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.Q288L|GAS7_ENST00000585266.1_Missense_Mutation_p.Q364L|GAS7_ENST00000432992.2_Missense_Mutation_p.Q428L|GAS7_ENST00000542249.1_Missense_Mutation_p.Q373L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	428					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ATGCCGCAGCTGCGTGTACTG	0.632000			T	MLL	AML*								6	39					0	0	0.003080	0	0
TLR4	7099	broad.mit.edu	37	9	120470844	120470844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:120470844G>T	ENST00000355622.6	+	2	198	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	33					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTGCAGGTGGTTCCTAATAT	0.463000													14	46					0.000219431	0.000372205	0.002450	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128711	248128711	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248128711T>A	ENST00000366480.3	+	1	177	c.78T>A	c.(76-78)gaT>gaA	p.D26E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGGGACAGATTTTCTACTTG	0.373000													7	142					0	0	0.001984	0	0
LRRN2	10446	broad.mit.edu	37	1	204587869	204587869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:204587869C>A	ENST00000367175.1	-	1	3464	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	LRRN2_ENST00000367177.3_Missense_Mutation_p.D418Y|LRRN2_ENST00000367176.3_Missense_Mutation_p.D418Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	418	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AAACAGTGGTCCGTCATCTCC	0.662000													6	28					0.00198382	0.00319043	0.001984	1	0
SOX8	30812	broad.mit.edu	37	16	1033900	1033900	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:1033900G>A	ENST00000293894.3	+	2	710	c.595G>A	c.(595-597)Ggt>Agt	p.G199S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	199					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCTGGCGGCGGTGCCGTGTA	0.677000													3	9					0	0	0.004672	0	0
MYEOV	26579	broad.mit.edu	37	11	69063686	69063686	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:69063686G>C	ENST00000535407.1	+	2	1238	c.595G>C	c.(595-597)Gct>Cct	p.A199P	MYEOV_ENST00000441339.2_Missense_Mutation_p.A257P|MYEOV_ENST00000308946.3_Missense_Mutation_p.A257P			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	257										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TCTGCGGGTGGCTGGGTCCTG	0.662000													3	30					0	0	0.004672	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157182	12157182	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:12157182C>T	ENST00000263932.2	+	3	398	c.176C>T	c.(175-177)cCa>cTa	p.P59L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	59					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTGCCCACAGAGGCCT	0.572000													19	58					0	0	0.008871	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374486	95374486	+	RNA	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:95374486T>G	ENST00000494840.1	-	0	1375					NR_077228.1																						GGCCATCTAATTATCTAATTA	0.383000													3	26					0	0	0.004672	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131718	45131718	+	RNA	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:45131718C>T	ENST00000575173.1	-	0	418																											TAAAGAATCACGCATGGAAGC	0.448000													16	65					0	0	0.004007	0	0
GPM6A	2823	broad.mit.edu	37	4	176594891	176594891	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:176594891G>T	ENST00000280187.7	-	4	372	c.327C>A	c.(325-327)gcC>gcA	p.A109A	GPM6A_ENST00000393658.2_Silent_p.A109A|GPM6A_ENST00000515090.1_Silent_p.A102A|GPM6A_ENST00000506894.1_Silent_p.A98A	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	109						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GATCTTTGATGGCCCCAGTTG	0.428000													4	40					1.024e-07	2.0277e-07	0.000602	1	0
ZNF17	7565	broad.mit.edu	37	19	57931245	57931245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:57931245G>T	ENST00000307658.7	+	4	654	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.D129Y|AC003002.6_ENST00000596400.1_Missense_Mutation_p.141_141insY|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CACCAGAAGTGATGAAGGGAG	0.498000													11	82					3.07112e-06	5.73999e-06	0.000978	1	0
SNX10	29887	broad.mit.edu	37	7	26411519	26411519	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:26411519T>A	ENST00000338523.4	+	6	577	c.390T>A	c.(388-390)atT>atA	p.I130I	SNX10_ENST00000409367.1_Silent_p.I90I|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409838.1_Silent_p.I46I|SNX10_ENST00000396376.1_Silent_p.I130I|SNX10_ENST00000446848.2_Silent_p.I156I	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	130					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CAGAAGACATTGAGGCGTGTG	0.393000													16	98					0	0	0.004990	0	0
PRAME	23532	broad.mit.edu	37	22	22890704	22890704	+	Missense_Mutation	SNP	C	C	T	rs147281170		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:22890704C>T	ENST00000543184.1	-	5	2177	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	PRAME_ENST00000398741.1_Missense_Mutation_p.V439M|PRAME_ENST00000398743.2_Missense_Mutation_p.V439M|PRAME_ENST00000402697.1_Missense_Mutation_p.V439M|PRAME_ENST00000424204.2_Missense_Mutation_p.V423M|PRAME_ENST00000539862.1_Missense_Mutation_p.V423M|PRAME_ENST00000405655.3_Missense_Mutation_p.V439M	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	439	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGATACAGCACGTGGGTCAGA	0.552000													9	64					0	0	0.000978	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236971	53236971	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:53236971G>T	ENST00000294353.6	+	3	621	c.476G>T	c.(475-477)aGc>aTc	p.S159I	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S159I|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S159I	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	159							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CGCTGCTTCAGCCGGCTTTCT	0.488000													12	67					1.5842e-08	3.20044e-08	0.001855	1	0
LCE1B	353132	broad.mit.edu	37	1	152785227	152785227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:152785227G>T	ENST00000360090.3	+	1	781	c.305G>T	c.(304-306)gGc>gTc	p.G102V		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	102	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTCCGGGGGCTCCAGCTGC	0.622000													5	71					0.00116845	0.00189609	0.001168	1	0
CES5A	221223	broad.mit.edu	37	16	55907881	55907881	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:55907881G>T	ENST00000518005.1	-	0	206				CES5A_ENST00000290567.9_Missense_Mutation_p.L48M|CES5A_ENST00000319165.9_Missense_Mutation_p.L48M|CES5A_ENST00000520435.1_Missense_Mutation_p.L48M|CES5A_ENST00000521992.1_Missense_Mutation_p.L77M|CES5A_ENST00000541580.1_Intron			Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGCTTCCCAGCACAGTGACT	0.617000													5	32					0.000157383	0.000267462	0.003080	1	0
OPTC	26254	broad.mit.edu	37	1	203472722	203472722	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:203472722C>A	ENST00000367222.2	+	7	989	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	291						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGTGACCCCGAGGAGCACA	0.577000													5	111					0.00116845	0.00189609	0.001168	1	0
IGLV8-61	28774	broad.mit.edu	37	22	22453211	22453211	+	RNA	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:22453211G>A	ENST00000390283.2	+	0	102																											CTTGCTTATGGATCAGGTCAG	0.522000													5	20					0	0	0.001984	0	0
OR6C3	254786	broad.mit.edu	37	12	55725587	55725587	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:55725587A>C	ENST00000379667.1	+	1	103	c.103A>C	c.(103-105)Agt>Cgt	p.S35R		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTATATATTAAGTGTTACTGG	0.403000													16	142					0	0	0.003163	0	0
EHF	26298	broad.mit.edu	37	11	34673338	34673338	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:34673338G>A	ENST00000257831.3	+	6	651	c.530G>A	c.(529-531)aGt>aAt	p.S177N	EHF_ENST00000530286.1_Missense_Mutation_p.S177N|EHF_ENST00000531794.1_Missense_Mutation_p.S199N|EHF_ENST00000450654.2_Intron|EHF_ENST00000533754.1_Missense_Mutation_p.S177N	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	177					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ACAACCACCAGTCACCTTCCT	0.483000													20	90					0	0	0.003330	0	0
CD1C	911	broad.mit.edu	37	1	158262516	158262516	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:158262516G>C	ENST00000368170.3	+	4	1020	c.741G>C	c.(739-741)ctG>ctC	p.L247L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	247	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGAGCAACTGGGCACTAAAC	0.537000													18	98					0	0	0.008871	0	0
OR2T33	391195	broad.mit.edu	37	1	248436915	248436915	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248436915C>T	ENST00000318021.2	-	1	223	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCATCATGTCCATGAGGGAA	0.552000													19	139					0	0	0.002780	0	0
PER2	8864	broad.mit.edu	37	2	239162142	239162142	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:239162142C>T	ENST00000254657.3	-	19	2801	c.2522G>A	c.(2521-2523)tGc>tAc	p.C841Y	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	841					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CACGGCTGGGCAGCTGGACTG	0.701000													6	13					0	0	0.003080	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439809	150439809	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:150439809G>A	ENST00000358647.3	+	3	949	c.582G>A	c.(580-582)gaG>gaA	p.E194E	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCTGTGGAGGAGCAGAGGC	0.577000													4	83					0	0	0.000248	0	0
PCDH10	57575	broad.mit.edu	37	4	134073041	134073041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:134073041C>A	ENST00000264360.4	+	1	2572	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGGCGCAACGGGACTCCAG	0.692000													7	41					0.00448238	0.00713214	0.004482	1	0
SEMA6A	57556	broad.mit.edu	37	5	115822567	115822567	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:115822567G>T	ENST00000343348.6	-	10	1627	c.840C>A	c.(838-840)cgC>cgA	p.R280R	SEMA6A_ENST00000257414.8_Silent_p.R280R|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.R280R|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	280	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGCAGTTCAAGCGCGCCTTCA	0.473000													24	86					7.88262e-20	1.91526e-19	0.003330	1	0
NEB	4703	broad.mit.edu	37	2	152514544	152514544	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:152514544C>G	ENST00000397345.3	-	48	6338	c.6136G>C	c.(6136-6138)Gca>Cca	p.A2046P	NEB_ENST00000427231.2_Missense_Mutation_p.A2046P|NEB_ENST00000409198.1_Missense_Mutation_p.A2046P|NEB_ENST00000604864.1_Missense_Mutation_p.A2046P|NEB_ENST00000172853.10_Missense_Mutation_p.A2046P|NEB_ENST00000603639.1_Missense_Mutation_p.A2046P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2046					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAGGAATTGCATCAGGTCTG	0.413000													3	24					0	0	0.000248	0	0
CDH18	1016	broad.mit.edu	37	5	19473465	19473465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:19473465C>A	ENST00000507958.1	-	15	3233	c.2243G>T	c.(2242-2244)gGg>gTg	p.G748V	CDH18_ENST00000274170.4_Missense_Mutation_p.G748V|CDH18_ENST00000382275.1_Missense_Mutation_p.G748V|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	748					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTGATAGACCCAGCTTCTGA	0.468000													9	73					0.000673444	0.00110884	0.008291	1	0
CEP192	55125	broad.mit.edu	37	18	13049050	13049050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:13049050G>T	ENST00000506447.1	+	16	2340	c.2260G>T	c.(2260-2262)Gag>Tag	p.E754*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.E279*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.E158*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	349										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCAGGAAGATGAGAAACAAAA	0.363000													8	60					1.12685e-05	2.03014e-05	0.004482	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111976014	111976014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:111976014C>A	ENST00000374566.3	-	17	2235	c.1718G>T	c.(1717-1719)gGa>gTa	p.G573V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	573						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGCCAGGGTCCAGCAGCCTT	0.537000													19	52					4.35082e-09	8.9301e-09	0.001523	1	0
CNTN1	1272	broad.mit.edu	37	12	41337841	41337841	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:41337841G>T	ENST00000551295.2	+	14	1669	c.1552G>T	c.(1552-1554)Gtt>Ttt	p.V518F	CNTN1_ENST00000348761.2_Missense_Mutation_p.V507F|CNTN1_ENST00000347616.1_Missense_Mutation_p.V518F|CNTN1_ENST00000360099.3_Missense_Mutation_p.V518F|CNTN1_ENST00000547849.1_Missense_Mutation_p.V518F|CNTN1_ENST00000547702.1_Missense_Mutation_p.V518F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	518	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CGATATCACAGTTGGAGAAAA	0.378000													8	53					5.18039e-06	9.58266e-06	0.003080	1	0
SPEF2	79925	broad.mit.edu	37	5	35691318	35691318	+	Silent	SNP	A	A	G	rs117547956	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:35691318A>G	ENST00000440995.2	+	11	1704	c.1704A>G	c.(1702-1704)acA>acG	p.T568T	SPEF2_ENST00000356031.3_Silent_p.T568T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.T568T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	568					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.T568T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGGAAAACATTAAGTGGAA	0.403000													26	117					0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34158539	34158539	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:34158539C>T	ENST00000373381.4	-	25	4219	c.4043G>A	c.(4042-4044)tGc>tAc	p.C1348Y	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.C221Y	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1308	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCAATGGTGCAGCCGGCCTC	0.567000													19	150					0	0	0.001882	0	0
DDX31	64794	broad.mit.edu	37	9	135522351	135522351	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:135522351C>A	ENST00000372159.3	-	12	1528	c.1377G>T	c.(1375-1377)gcG>gcT	p.A459A	DDX31_ENST00000438527.3_Silent_p.A330A|DDX31_ENST00000372153.1_Silent_p.A459A|DDX31_ENST00000310532.2_Silent_p.A459A	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	459						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCTCCTGGACCGCTTTGTCCT	0.517000													18	44					5.03518e-11	1.09604e-10	0.007413	1	0
APOB	338	broad.mit.edu	37	2	21245793	21245793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:21245793G>T	ENST00000233242.1	-	18	2853	c.2726C>A	c.(2725-2727)tCg>tAg	p.S909*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	909	Heparin-binding.				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)	CTCCAGACCCGACTCGTGGAA	0.498000													11	66					3.07112e-06	5.73999e-06	0.000978	1	0
UNC119B	84747	broad.mit.edu	37	12	121154531	121154531	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:121154531A>T	ENST00000344651.4	+	3	499	c.459A>T	c.(457-459)acA>acT	p.T153T		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	153										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCTCCGGACAGTCGGGGCTA	0.537000													17	156					0	0	0.007413	0	0
VPS54	51542	broad.mit.edu	37	2	64147084	64147084	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:64147084T>A	ENST00000354504.3	-	12	2227	c.1638A>T	c.(1636-1638)gcA>gcT	p.A546A	VPS54_ENST00000272322.4_Silent_p.A699A|VPS54_ENST00000409558.3_Silent_p.A687A			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	699					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTGAAATTCTGCAGGAACAT	0.388000													15	33					0	0	0.008871	0	0
C6orf10	10665	broad.mit.edu	37	6	32261152	32261152	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:32261152G>C	ENST00000375015.4	-	26	1495	c.1295C>G	c.(1294-1296)gCa>gGa	p.A432G	C6orf10_ENST00000533191.1_Missense_Mutation_p.A431G|C6orf10_ENST00000442822.2_Missense_Mutation_p.A424G|C6orf10_ENST00000527965.1_Missense_Mutation_p.A417G|C6orf10_ENST00000375007.4_Missense_Mutation_p.A431G|C6orf10_ENST00000447241.2_Missense_Mutation_p.A433G			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	433						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGGCACATCTGCCTCAGTCTT	0.473000													40	152					0	0	0.008740	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558280	106558280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:106558280G>T	ENST00000526355.1	-	8	2662	c.2194C>A	c.(2194-2196)Ctc>Atc	p.L732I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L753I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L763I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	732					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.L732I(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGTCTCAGAGGCTTGTCTCC	0.488000													6	114					0.00448238	0.00713214	0.004482	1	0
ANO2	57101	broad.mit.edu	37	12	5685148	5685148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:5685148G>T	ENST00000327087.8	-	24	2544	c.2473C>A	c.(2473-2475)Ccc>Acc	p.P825T	ANO2_ENST00000356134.5_Missense_Mutation_p.P826T|ANO2_ENST00000546188.1_Missense_Mutation_p.P826T			Q9NQ90	ANO2_HUMAN	anoctamin 2	830						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCAGGCGGGGGATAAAGTCG	0.517000													5	17					1.23904e-05	2.21451e-05	0.000602	1	0
MMP16	4325	broad.mit.edu	37	8	89086839	89086839	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:89086839A>G	ENST00000286614.6	-	7	1497	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	406	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTACCTTTAAAGAACACAAAA	0.388000													6	61					0	0	0.001168	0	0
PHF23	79142	broad.mit.edu	37	17	7139375	7139375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:7139375C>T	ENST00000320316.3	-	4	1097	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	PHF23_ENST00000454255.2_Missense_Mutation_p.E287K|PHF23_ENST00000571362.1_Missense_Mutation_p.E224K|PHF23_ENST00000576955.1_Missense_Mutation_p.E161K	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	291							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGGACTCCTTCAGGGTGCACT	0.592000													16	141					0	0	0.006122	0	0
ZNF334	55713	broad.mit.edu	37	20	45130851	45130851	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:45130851G>A	ENST00000457685.2	-	6	2336	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	ZNF334_ENST00000347606.4_Missense_Mutation_p.P376L|ZNF334_ENST00000593880.1_Missense_Mutation_p.P399L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACATTCATTTGGCTTCTCTCC	0.438000													36	136					0	0	0.004878	0	0
AKT3	10000	broad.mit.edu	37	1	243778452	243778452	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:243778452T>A	ENST00000366539.1	-	7	773	c.573A>T	c.(571-573)gcA>gcT	p.A191A	AKT3_ENST00000336199.5_Silent_p.A191A|AKT3_ENST00000366540.1_Silent_p.A191A|AKT3_ENST00000263826.5_Silent_p.A191A			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	191	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTAGAGTGTGTGCCACTTCAT	0.308000													9	34					0	0	0.004482	0	0
SMG8	55181	broad.mit.edu	37	17	57288807	57288807	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:57288807G>T	ENST00000543872.2	+	2	1659	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	SMG8_ENST00000578922.1_Missense_Mutation_p.E465D|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E465D			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	465					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGAAAGAAGAGGACTTGGGGT	0.418000													7	56					0.000157383	0.000267462	0.003080	1	0
PEX2	5828	broad.mit.edu	37	8	77895673	77895673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:77895673C>A	ENST00000419564.2	-	4	1206	c.742G>T	c.(742-744)Gga>Tga	p.G248*	PEX2_ENST00000522527.1_Nonsense_Mutation_p.G248*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.G248*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.G248*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	248					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GGCCACTCTCCACATAGAGCG	0.433000													34	64					9.65021e-13	2.16348e-12	0.002096	1	0
FCRL1	115350	broad.mit.edu	37	1	157771796	157771796	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:157771796G>C	ENST00000358292.3	-	5	846	c.795C>G	c.(793-795)tcC>tcG	p.S265S	FCRL1_ENST00000491942.1_Silent_p.S265S|FCRL1_ENST00000368176.3_Silent_p.S265S|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	265	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCAGTCAGGGAAAGGTTGA	0.567000													11	98					0	0	0.008291	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433740	73433740	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:73433740G>T	ENST00000263666.4	-	10	2091	c.1977C>A	c.(1975-1977)gcC>gcA	p.A659A	PDZRN3_ENST00000462146.2_Silent_p.A316A|PDZRN3_ENST00000466780.1_Silent_p.A316A|PDZRN3_ENST00000535920.1_Silent_p.A381A|PDZRN3_ENST00000479530.1_Silent_p.A376A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	659							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTAAGGGGTGGCGCTCTTCA	0.657000													8	54					5.4927e-09	1.12226e-08	0.004482	1	0
CYP3A5	1577	broad.mit.edu	37	7	99277499	99277499	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:99277499C>T	ENST00000339843.2	-	1	122	c.21G>A	c.(19-21)ttG>ttA	p.L7L	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.L7L|CYP3A5_ENST00000222982.4_Silent_p.L7L					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTTCCACCGCCAAATTTGGGA	0.512000													25	97					0	0	0.004656	0	0
TYR	7299	broad.mit.edu	37	11	88924409	88924409	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:88924409T>G	ENST00000263321.5	+	2	1361	c.859T>G	c.(859-861)Tct>Gct	p.S287A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	287					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGCCATCAGTCTTTATGCAA	0.478000													6	79					0	0	0.001984	0	0
ITGAE	3682	broad.mit.edu	37	17	3657184	3657184	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:3657184G>A	ENST00000263087.4	-	13	1518	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	474					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATGTAGGAGAGGCTGCAGGTC	0.637000													9	37					0	0	0.002450	0	0
ALMS1	7840	broad.mit.edu	37	2	73651896	73651896	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:73651896C>T	ENST00000264448.6	+	5	1214	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S368L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S326L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	368					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATCAAGTTTCAGTTGCAACT	0.368000													9	28					0	0	0.006214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516808	12516808	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:12516808G>C	ENST00000380682.1	+	2	557	c.51G>C	c.(49-51)acG>acC	p.T17T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	17					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCACAGGACGAAGTCTTCAG	0.527000													16	24					0	0	0.006122	0	0
ZNF286A	57335	broad.mit.edu	37	17	15609728	15609728	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:15609728A>C	ENST00000464847.2	+	3	707	c.154A>C	c.(154-156)Atg>Ctg	p.M52L	ZNF286A_ENST00000472486.1_Missense_Mutation_p.M42L|ZNF286A_ENST00000583566.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000421016.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.M42L|ZNF286A_ENST00000585194.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000395893.2_Missense_Mutation_p.M52L|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.M52L|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000395894.2_Missense_Mutation_p.M52L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGATGTGGCCATGGACTTTAC	0.423000													3	69					0	0	0.004672	0	0
ANKRD27	84079	broad.mit.edu	37	19	33137521	33137521	+	Splice_Site	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:33137521C>A	ENST00000306065.4	-	4	372	c.213_splice	c.e4-1	p.D72_splice	ANKRD27_ENST00000586693.2_5'UTR|ANKRD27_ENST00000587352.1_Splice_Site_p.D72_splice	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	72					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATAAAGACATCCTGGAAACAA	0.488000													8	21					5.18039e-06	9.58266e-06	0.003080	1	0
MAST2	23139	broad.mit.edu	37	1	46500346	46500346	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:46500346C>A	ENST00000361297.2	+	29	4288	c.4005C>A	c.(4003-4005)cgC>cgA	p.R1335R	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1335					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCACGGCGCAAGTCAGCAG	0.687000													16	74					1.67942e-08	3.37762e-08	0.006122	1	0
B4GALT6	9331	broad.mit.edu	37	18	29210947	29210947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:29210947C>A	ENST00000306851.5	-	6	1047	c.751G>T	c.(751-753)Gca>Tca	p.A251S	B4GALT6_ENST00000383131.3_Missense_Mutation_p.A212S|B4GALT6_ENST00000237019.7_Missense_Mutation_p.A212S	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	251					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCCAGCTTTGCAGCAAAATGA	0.403000													9	64					3.07112e-06	5.73999e-06	0.000978	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625267	43625267	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:43625267C>G	ENST00000332857.6	-	4	3448	c.3420G>C	c.(3418-3420)caG>caC	p.Q1140H		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CGCCTTCATCCTGATGGGTGT	0.428000													33	80					0	0	0.003610	0	0
DMGDH	29958	broad.mit.edu	37	5	78301229	78301229	+	Splice_Site	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:78301229G>A	ENST00000255189.3	-	15	2280	c.2250_splice	c.e15-1	p.P751_splice		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	751					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAAGTCTGCTGGCTGCAGGAA	0.433000													7	29					0	0	0.008291	0	0
MYH3	4621	broad.mit.edu	37	17	10538338	10538338	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:10538338T>C	ENST00000583535.1	-	31	4262	c.4175A>G	c.(4174-4176)aAa>aGa	p.K1392R	MYH3_ENST00000226209.7_Missense_Mutation_p.K1392R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1392				KK -> QE (in Ref. 1; CAA32167 and 3; CAA31492).	muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGCAAGTTTTTTCCTTAAAGA	0.418000													10	84					0	0	0.006214	0	0
JPH2	57158	broad.mit.edu	37	20	42815314	42815314	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:42815314C>T	ENST00000372980.3	-	1	904	c.32G>A	c.(31-33)gGa>gAa	p.G11E	JPH2_ENST00000342272.3_Missense_Mutation_p.G11E	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	11	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTACGCCCCTCCATCATCAAA	0.637000													6	45					0	0	0.001168	0	0
PTPRF	5792	broad.mit.edu	37	1	44058193	44058193	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:44058193C>T	ENST00000359947.4	+	11	2074	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	PTPRF_ENST00000372413.3_Silent_p.Y578Y|PTPRF_ENST00000372414.3_Silent_p.Y578Y|PTPRF_ENST00000438120.1_Silent_p.Y578Y|PTPRF_ENST00000422171.2_Silent_p.Y37Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	578	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACACACTCTACCGCTTCCAGC	0.607000													14	98					0	0	0.004007	0	0
ZNF682	91120	broad.mit.edu	37	19	20117592	20117592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:20117592C>A	ENST00000397165.2	-	4	879	c.719G>T	c.(718-720)tGg>tTg	p.W240L	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.W164L|ZNF682_ENST00000397162.1_Missense_Mutation_p.W208L|ZNF682_ENST00000358523.5_Missense_Mutation_p.W208L|ZNF682_ENST00000597972.1_Missense_Mutation_p.W246L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ACTCGAGCACCAGTTAAAAGC	0.388000													5	25					8.12818e-05	0.000140254	0.001984	1	0
TNKS	8658	broad.mit.edu	37	8	9609305	9609305	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:9609305G>C	ENST00000310430.6	+	19	3045	c.3019G>C	c.(3019-3021)Gcc>Ccc	p.A1007P	TNKS_ENST00000518281.1_Missense_Mutation_p.A770P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1007					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGTAGGAGGAGCCTCCAATGC	0.542000													9	100					0	0	0.008291	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612781	44612781	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:44612781G>A	ENST00000273320.3	+	6	2608	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A727T	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATGTGGGAAAGCCTTTAGTCA	0.458000													7	114					0	0	0.001984	0	0
NUP210L	91181	broad.mit.edu	37	1	154042923	154042923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:154042923T>A	ENST00000368559.3	-	17	2451	c.2380A>T	c.(2380-2382)Agg>Tgg	p.R794W	NUP210L_ENST00000271854.3_Missense_Mutation_p.R794W	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	794						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)			ACTGTGTCCCTCAGTCTTGAT	0.338000													9	19					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34258104	34258104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:34258104C>A	ENST00000373381.4	-	11	1646	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	CSMD2_ENST00000338325.1_Missense_Mutation_p.E98D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	450	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAATCAAACTCCTCAAAGG	0.552000													6	60					0.00198382	0.00319043	0.001984	1	0
ZNF571	51276	broad.mit.edu	37	19	38055732	38055732	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:38055732T>G	ENST00000328550.2	-	4	1697	c.1598A>C	c.(1597-1599)aAa>aCa	p.K533T	ZNF571_ENST00000451802.2_Missense_Mutation_p.K533T|ZNF571_ENST00000358744.3_Missense_Mutation_p.K533T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.K533T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACACTGTTTACATTCATA	0.418000													5	75					0	0	0.000602	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101984	69101984	+	Splice_Site	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:69101984T>C	ENST00000332644.5	-	3	286	c.124_splice	c.e3-1	p.E42_splice		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	42	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTAAGTCTTCTCTGCAAAATT	0.338000													6	11					0	0	0.001168	0	0
CNTN1	1272	broad.mit.edu	37	12	41374759	41374759	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:41374759C>T	ENST00000551295.2	+	16	1970	c.1853C>T	c.(1852-1854)aCt>aTt	p.T618I	CNTN1_ENST00000348761.2_Missense_Mutation_p.T607I|CNTN1_ENST00000347616.1_Missense_Mutation_p.T618I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	618	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATTAGAGCCACTTCTGTGGCA	0.428000													19	133					0	0	0.006122	0	0
MC3R	4159	broad.mit.edu	37	20	54824181	54824181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:54824181G>T	ENST00000243911.2	+	1	394	c.282G>T	c.(280-282)gaG>gaT	p.E94D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATGCCCTGGAGACCATCATGA	0.562000													14	61					4.93089e-13	1.12225e-12	0.002450	1	0
PTPRB	5787	broad.mit.edu	37	12	71029521	71029521	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:71029521G>T	ENST00000334414.6	-	2	425	c.381C>A	c.(379-381)ctC>ctA	p.L127L	PTPRB_ENST00000551525.1_Silent_p.L126L|PTPRB_ENST00000550358.1_Silent_p.L127L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.		S -> G (in dbSNP:rs2465811).		angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGCTATGGAGGTATTTCC	0.448000													8	45					0.000157383	0.000267462	0.003080	1	0
MIR520A	574467	broad.mit.edu	37	19	54194189	54194189	+	RNA	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:54194189A>C	ENST00000384862.1	+	0	55					NR_030189.1																						GAGAAAAGAAAGTGCTTCCCT	0.453000													17	133					0	0	0.007413	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808631	18808631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:18808631G>T	ENST00000400664.1	+	1	1208	c.1156G>T	c.(1156-1158)Gct>Tct	p.A386S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	386						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGCTCCCCGCTCCACCCTG	0.677000													6	21					3.59834e-05	6.30586e-05	0.001168	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134474191	134474191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:134474191C>T	ENST00000319914.5	-	8	1803	c.776G>A	c.(775-777)tGg>tAg	p.W259*	ST3GAL1_ENST00000522652.1_Nonsense_Mutation_p.W259*|ST3GAL1_ENST00000521180.1_Nonsense_Mutation_p.W259*|ST3GAL1_ENST00000399640.2_Nonsense_Mutation_p.W259*			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	259					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCCTTGCAGCCAGTTGTCAAA	0.572000													5	115					0	0	0.001168	0	0
ZNF654	55279	broad.mit.edu	37	3	88189288	88189288	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:88189288C>T	ENST00000309495.5	+	1	1035	c.828C>T	c.(826-828)aaC>aaT	p.N276N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAATTGCAACGAGTCGTTTA	0.373000													7	101					0	0	0.003080	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024906	176024906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:176024906C>A	ENST00000303991.4	-	2	2107	c.1930G>T	c.(1930-1932)Ggg>Tgg	p.G644W		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	644						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCTTGCCCAGGGAGCTTT	0.582000													11	31					3.07112e-06	5.73999e-06	0.000978	1	0
SGOL2	151246	broad.mit.edu	37	2	201437173	201437173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:201437173C>T	ENST00000357799.4	+	7	2202	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	702					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTACCCCGTTCAGCAAAATGA	0.343000													8	41					0	0	0.003080	0	0
OR51G1	79324	broad.mit.edu	37	11	4944943	4944943	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:4944943C>A	ENST00000321961.2	-	1	694	c.627G>T	c.(625-627)gtG>gtT	p.V209V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCACACCCACGGTGCAGG	0.547000													10	70					3.07112e-06	5.73999e-06	0.000978	1	0
PSG8	440533	broad.mit.edu	37	19	43359741	43359741	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:43359741G>T	ENST00000401467.2	-	1	102	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	11				TQR -> MQH (in Ref. 2; CAH18672).		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)				TTGATGTGCTGTGTGCAGGGA	0.582000													20	148					0.00332997	0.00532677	0.003330	1	0
NPIPA5	100288332	broad.mit.edu	37	16	15457672	15457672	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:15457672G>T	ENST00000360151.4	-	8	896	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		CATCCGCTGAGGGTAGAGCTG	0.572000													9	90					0.00621372	0.00980023	0.006214	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39914269	39914269	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:39914269C>T	ENST00000425673.1	+	16	2813	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	PLEKHG2_ENST00000458508.2_Silent_p.L800L|PLEKHG2_ENST00000409794.3_Silent_p.L859L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	859					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATCCCCCTGTCTGCCCCAGGA	0.672000													4	13					0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	21031029	21031029	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:21031029C>A	ENST00000261383.3	-	41	5938	c.5939G>T	c.(5938-5940)cGc>cTc	p.R1980L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1980					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)		GATCAGGTTGCGGAAAAACAC	0.453000													7	56					8.12818e-05	0.000140254	0.001984	1	0
MMP2	4313	broad.mit.edu	37	16	55522585	55522585	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:55522585G>A	ENST00000219070.4	+	6	1472	c.963G>A	c.(961-963)gaG>gaA	p.E321E	MMP2_ENST00000543485.1_Silent_p.E245E|MMP2_ENST00000437642.2_Silent_p.E271E|MMP2_ENST00000570308.1_Silent_p.E245E	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	321	Collagen-binding.|Fibronectin type-II 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCACCACTGAGGACTACGACC	0.612000													4	11					0	0	0.000602	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485988	169485988	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:169485988C>A	ENST00000330368.2	-	2	725	c.351G>T	c.(349-351)caG>caT	p.Q117H		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	117						cytoplasm|cytoskeleton											TTTCCGTGATCTGTTGCCGGT	0.507000													9	39					2.17888e-05	3.86353e-05	0.006214	1	0
OR1A1	8383	broad.mit.edu	37	17	3119399	3119399	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:3119399T>G	ENST00000304094.1	+	1	485	c.485T>G	c.(484-486)cTc>cGc	p.L162R		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACACTCTGCTCACAGCTAGT	0.488000													4	74					0	0	0.000248	0	0
MYH10	4628	broad.mit.edu	37	17	8445459	8445459	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:8445459T>C	ENST00000360416.3	-	14	1709	c.1571A>G	c.(1570-1572)gAt>gGt	p.D524G	MYH10_ENST00000269243.4_Missense_Mutation_p.D514G|MYH10_ENST00000396239.1_Missense_Mutation_p.D514G|MYH10_ENST00000379980.4_Missense_Mutation_p.D530G	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	514	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGGCTGCAGATCCAGCCCGAA	0.488000													5	68					0	0	0.000602	0	0
GTF2F1	2962	broad.mit.edu	37	19	6380350	6380350	+	Missense_Mutation	SNP	C	C	T	rs149599017	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:6380350C>T	ENST00000394456.5	-	13	1960	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	GTF2F1_ENST00000429701.2_Missense_Mutation_p.R414Q	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	499					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGGGTTGAGTCGCTTGAGGAT	0.537000													6	204					0	0	0.001984	0	0
EPB41	2035	broad.mit.edu	37	1	29435868	29435868	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:29435868C>T	ENST00000343067.4	+	18	2461	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D	EPB41_ENST00000373800.3_Intron|EPB41_ENST00000349460.4_Silent_p.D555D|EPB41_ENST00000347529.3_Silent_p.D689D|EPB41_ENST00000356093.2_Silent_p.D745D|EPB41_ENST00000398863.2_Silent_p.D681D|EPB41_ENST00000373798.1_Silent_p.D778D|EPB41_ENST00000460378.1_3'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	778	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACAGTGGAGACTTGGACCCAG	0.502000													8	81					0	0	0.003080	0	0
ZNF134	7693	broad.mit.edu	37	19	58132553	58132553	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:58132553A>C	ENST00000396161.5	+	3	1376	c.1066A>C	c.(1066-1068)Agt>Cgt	p.S356R		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	356						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTAGTCGAAGTTCTGACTA	0.438000													6	109					0	0	0.001168	0	0
LYPD3	27076	broad.mit.edu	37	19	43967379	43967379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:43967379C>T	ENST00000244333.3	-	4	531	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	148	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GCACGCCTCCCGGCTCAGGCC	0.622000													8	68					0	0	0.006214	0	0
NOS1	4842	broad.mit.edu	37	12	117658026	117658026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:117658026G>A	ENST00000317775.6	-	27	4709	c.4024C>T	c.(4024-4026)Cga>Tga	p.R1342*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.R1376*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1342					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCAGGGCTCGGTACACAGAC	0.607000													7	180					0	0	0.004482	0	0
DACH2	117154	broad.mit.edu	37	X	86069788	86069788	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:86069788G>T	ENST00000373131.1	+	9	1759	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	DACH2_ENST00000510272.1_Missense_Mutation_p.Q326H|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.Q545H|DACH2_ENST00000508860.1_Missense_Mutation_p.Q378H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	545	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGTGGAGCAGGCACTTAAGC	0.438000													10	14					2.80697e-09	5.81445e-09	0.000978	1	0
DNM3	26052	broad.mit.edu	37	1	172017776	172017776	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:172017776G>A	ENST00000358155.4	+	10	1397	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	DNM3_ENST00000355305.5_Missense_Mutation_p.M407I|DNM3_ENST00000520906.1_Missense_Mutation_p.M407I|DNM3_ENST00000367733.2_Missense_Mutation_p.M407I|DNM3_ENST00000367731.1_Missense_Mutation_p.M407I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	407					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCAGACATGGCATTTGAAG	0.353000													15	62					0	0	0.004007	0	0
C16orf62	57020	broad.mit.edu	37	16	19639973	19639973	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:19639973A>G	ENST00000438132.3	+	17	1713	c.1665A>G	c.(1663-1665)cgA>cgG	p.R555R	C16orf62_ENST00000543152.1_Silent_p.R215R|C16orf62_ENST00000542263.1_Silent_p.R488R|C16orf62_ENST00000448695.1_Silent_p.R316R|C16orf62_ENST00000417362.2_Silent_p.R399R|C16orf62_ENST00000251143.5_Silent_p.R466R	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	466						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTTTTCGATCACTGGGAT	0.383000													14	108					0	0	0.001855	0	0
GZMA	3001	broad.mit.edu	37	5	54405942	54405942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:54405942G>T	ENST00000274306.6	+	5	756	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	241	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCGTGGGCCTGGTGTCTATAT	0.458000													20	51					3.7963e-18	9.02878e-18	0.003330	1	0
EHBP1	23301	broad.mit.edu	37	2	63176133	63176133	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:63176133A>G	ENST00000263991.5	+	14	2739	c.2257A>G	c.(2257-2259)Atc>Gtc	p.I753V	EHBP1_ENST00000405015.3_Missense_Mutation_p.I718V|EHBP1_ENST00000431489.1_Missense_Mutation_p.I718V|EHBP1_ENST00000354487.3_Missense_Mutation_p.I718V|EHBP1_ENST00000405289.1_Missense_Mutation_p.I718V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	753						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAATCTCCTATCAAAAAAAC	0.368000													7	34					0	0	0.001984	0	0
ANGEL2	90806	broad.mit.edu	37	1	213181662	213181662	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:213181662C>G	ENST00000366962.3	-	3	686	c.532G>C	c.(532-534)Gat>Cat	p.D178H	ANGEL2_ENST00000540642.1_Missense_Mutation_p.D52H|ANGEL2_ENST00000360506.2_Missense_Mutation_p.D9H|ANGEL2_ENST00000535388.1_Missense_Mutation_p.D9H|ANGEL2_ENST00000544555.1_Missense_Mutation_p.D9H	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	178										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TCCAGTAAATCTTGTGAAAGT	0.353000													7	75					0	0	0.004482	0	0
MDM4	4194	broad.mit.edu	37	1	204512011	204512011	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:204512011G>T	ENST00000367182.3	+	8	773	c.611G>T	c.(610-612)gGa>gTa	p.G204V	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.G204V|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	204					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|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)			TGGTTTTTAGGAAACTTGAGA	0.388000			A		"""GBM, bladder, retinoblastoma"""								15	68					2.35188e-11	5.14438e-11	0.006122	1	0
RTTN	25914	broad.mit.edu	37	18	67863750	67863750	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:67863750G>A	ENST00000255674.6	-	7	1114	c.828C>T	c.(826-828)ttC>ttT	p.F276F	RTTN_ENST00000437017.1_Silent_p.F276F|RTTN_ENST00000454359.1_Silent_p.F276F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	276							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTTATTGGAGAAAAAACCTG	0.398000													4	58					0	0	0.000248	0	0
CACNA1S	779	broad.mit.edu	37	1	201020122	201020122	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:201020122C>T	ENST00000362061.3	-	33	4329	c.4103G>A	c.(4102-4104)tGt>tAt	p.C1368Y	CACNA1S_ENST00000367338.3_Missense_Mutation_p.C1349Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1368	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGGAAGGCACAGAGCATGTA	0.582000													10	93					0	0	0.008291	0	0
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348000													4	75					0	0	0.000248	0	0
HYDIN	54768	broad.mit.edu	37	16	70935048	70935048	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:70935048C>T	ENST00000393567.2	-	53	9057	c.8907G>A	c.(8905-8907)cgG>cgA	p.R2969R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2969								p.R2968R(1)|p.R2920R(1)|p.R526R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGGTGATCCGCCAGGCCA	0.527000													5	65					0	0	0.004482	0	0
POLR1A	25885	broad.mit.edu	37	2	86258615	86258615	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:86258615C>G	ENST00000263857.6	-	30	4794	c.4416G>C	c.(4414-4416)gaG>gaC	p.E1472D	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1472					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGACGGGTCCTCCTCAGTGC	0.642000													8	110					0	0	0.004482	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036415	21036415	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:21036415T>C	ENST00000381545.3	+	13	1780	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L	SLCO1B3_ENST00000261196.2_Silent_p.L521L|LST3_ENST00000540229.1_Silent_p.L521L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.L521L|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	521					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTCAGCACACTTGGGTGAATG	0.343000													3	53					0	0	0.004672	0	0
ITGB2	3689	broad.mit.edu	37	21	46321419	46321419	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr21:46321419G>C	ENST00000397850.2	-	7	1181	c.729C>G	c.(727-729)gtC>gtG	p.V243V	ITGB2_ENST00000397857.1_Silent_p.V243V|ITGB2_ENST00000397854.3_Silent_p.V186V|ITGB2_ENST00000302347.5_Silent_p.V243V|ITGB2_ENST00000355153.4_Silent_p.V243V|ITGB2_ENST00000397852.1_Silent_p.V243V			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	243	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCAGGCGGCGACCTGCATCA	0.667000													10	32					0	0	0.000978	0	0
FHL5	9457	broad.mit.edu	37	6	97063517	97063517	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:97063517G>C	ENST00000326771.2	+	7	1104	c.724G>C	c.(724-726)Gac>Cac	p.D242H	FHL5_ENST00000541107.1_Missense_Mutation_p.D242H	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	242	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTGCTTTCAAGACAGCCAGTG	0.438000													3	71					0	0	0.004672	0	0
SPDL1	54908	broad.mit.edu	37	5	169021607	169021607	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:169021607G>C	ENST00000265295.4	+	7	1092	c.813G>C	c.(811-813)caG>caC	p.Q271H	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TGGAACGTCAGCTCATCAGTA	0.343000													4	36					0	0	0.000602	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590659	234590659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:234590659G>T	ENST00000373426.3	+	1	76	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCAAGGCAGGGAAGCTGCT	0.582000													17	125					6.94344e-10	1.47221e-09	0.006122	1	0
ZFP64	55734	broad.mit.edu	37	20	50782517	50782517	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:50782517G>A	ENST00000216923.4	-	3	683	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	ZFP64_ENST00000371518.2_Missense_Mutation_p.P112S|ZFP64_ENST00000361387.2_Missense_Mutation_p.P112S|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P110S|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTTCCGTGGGCAGGTAAGTT	0.413000													13	48					0	0	0.002450	0	0
UMOD	7369	broad.mit.edu	37	16	20352616	20352616	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:20352616C>T	ENST00000396134.2	-	8	1596	c.1473G>A	c.(1471-1473)gtG>gtA	p.V491V	UMOD_ENST00000396138.4_Silent_p.V507V|UMOD_ENST00000396142.2_Silent_p.V458V|UMOD_ENST00000302509.4_Silent_p.V458V|UMOD_ENST00000570689.1_Silent_p.V458V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Silent_p.V491V	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	458	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCGCCATCCGCACGGTGAACA	0.597000													5	39					0	0	0.000602	0	0
VSTM2A	222008	broad.mit.edu	37	7	54636714	54636714	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:54636714C>G	ENST00000407838.3	+	5	1053	c.647C>G	c.(646-648)gCt>gGt	p.A216G	VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000404951.1_Intron|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000498834.1_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	216						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCGAGGATAGCTACAAGCCAT	0.378000													7	9					0	0	0.003080	0	0
OR4D9	390199	broad.mit.edu	37	11	59283148	59283148	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:59283148A>C	ENST00000329328.3	+	1	763	c.763A>C	c.(763-765)Atc>Ctc	p.I255L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I255F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGTGCCCTGCATCTATGTCTA	0.547000													12	230					0	0	0.001855	0	0
TEPP	374739	broad.mit.edu	37	16	58011780	58011780	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:58011780C>A	ENST00000290871.5	+	2	262	c.225C>A	c.(223-225)tcC>tcA	p.S75S	TEPP_ENST00000441824.2_Silent_p.S75S|TEPP_ENST00000569996.1_Intron	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	75						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TGTATGCCTCCCCGGCCATCC	0.662000													13	97					0.00244969	0.00393264	0.002450	1	0
PTPRC	5788	broad.mit.edu	37	1	198687428	198687428	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:198687428T>C	ENST00000367376.2	+	14	1821	c.1650T>C	c.(1648-1650)ttT>ttC	p.F550F	PTPRC_ENST00000442510.2_Silent_p.F552F|PTPRC_ENST00000352140.3_Silent_p.F502F|PTPRC_ENST00000594404.1_Silent_p.F389F|PTPRC_ENST00000348564.6_Silent_p.F391F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	550	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACTACACTTTTAAGGTAAAAG	0.323000													3	19					0	0	0.004672	0	0
OR51F1	256892	broad.mit.edu	37	11	4790811	4790811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:4790811C>A	ENST00000380383.1	-	1	357	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Nonsense_Mutation_p.E113*|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	113						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTCCAGATTCCATAAAAGTG	0.418000													12	29					7.03913e-09	1.43171e-08	0.001368	1	0
OR6N2	81442	broad.mit.edu	37	1	158747383	158747383	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:158747383G>T	ENST00000339258.1	-	1	42	c.43C>A	c.(43-45)Ctt>Att	p.L15I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCAAAGCCAAGGAACACAAAT	0.463000													12	80					5.50884e-06	1.00659e-05	0.001368	1	0
SCUBE2	57758	broad.mit.edu	37	11	9052304	9052304	+	Splice_Site	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:9052304C>A	ENST00000457346.2	-	18	2416		c.e18+1		SCUBE2_ENST00000309263.3_Splice_Site|SCUBE2_ENST00000450649.2_Splice_Site|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Splice_Site			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2							extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAAGTACTCACCTCTGGTTTC	0.537000													13	111					1.3612e-06	2.60921e-06	0.003163	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354843	45354843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:45354843G>T	ENST00000359271.2	+	2	1418	c.1168G>T	c.(1168-1170)Gcc>Tcc	p.A390S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	390						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCCTCGGCTGGCCCTGAGCTC	0.627000													8	45					0.00621372	0.00980023	0.006214	1	0
USP28	57646	broad.mit.edu	37	11	113683174	113683174	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:113683174C>A	ENST00000003302.4	-	16	1864	c.1796G>T	c.(1795-1797)gGa>gTa	p.G599V	USP28_ENST00000545540.1_Missense_Mutation_p.G474V|USP28_ENST00000544967.1_Missense_Mutation_p.G307V|USP28_ENST00000260188.5_Missense_Mutation_p.G599V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	599					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCAATAGTGTCCAGCATTTGC	0.433000													20	114					1.10923e-09	2.32447e-09	0.002780	1	0
TAL1	6886	broad.mit.edu	37	1	47685793	47685793	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:47685793G>T	ENST00000371883.3	-	4	1177	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	TAL1_ENST00000294339.3_Silent_p.R199R|TAL1_ENST00000371884.2_Silent_p.R199R|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	199	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTGCTGCCGCCATCGCTCC	0.577000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								11	39					1.08611e-07	2.12263e-07	0.000978	1	0
MINK1	50488	broad.mit.edu	37	17	4797591	4797591	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:4797591G>T	ENST00000355280.6	+	23	2989	c.2793G>T	c.(2791-2793)aaG>aaT	p.K931N	MINK1_ENST00000347992.7_Missense_Mutation_p.K902N|MINK1_ENST00000453408.3_Missense_Mutation_p.K911N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	931	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CACCCTCGAAGGATGGGAGTG	0.632000													10	22					1.08611e-07	2.12263e-07	0.000978	1	0
KBTBD8	84541	broad.mit.edu	37	3	67053770	67053770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:67053770G>T	ENST00000295568.4	+	3	432	c.301G>T	c.(301-303)Gct>Tct	p.A101S	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.A127S	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	127	BTB.									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)		GTTCACTGCAGCTAGCATCTT	0.418000													18	94					5.35267e-07	1.03485e-06	0.007413	1	0
TMEM55A	55529	broad.mit.edu	37	8	92007983	92007983	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:92007983G>A	ENST00000285419.3	-	7	1010	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	232						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCAATCCTAGGAGATAAGCAA	0.378000													30	36					0	0	0.007291	0	0
ATRX	546	broad.mit.edu	37	X	76937395	76937395	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:76937395T>C	ENST00000373344.5	-	9	3567	c.3353A>G	c.(3352-3354)aAa>aGa	p.K1118R	ATRX_ENST00000395603.3_Missense_Mutation_p.K1080R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1118					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCATCTTCTTTCATGGAATA	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	110					0	0	0.000248	0	0
OR4C16	219428	broad.mit.edu	37	11	55339778	55339778	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:55339778T>G	ENST00000314634.3	+	1	175	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCAATGTTCTTCTTCCTTTT	0.388000													6	145					0	0	0.001984	0	0
KDM5B	10765	broad.mit.edu	37	1	202702845	202702845	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:202702845G>C	ENST00000367265.3	-	23	4757	c.3593C>G	c.(3592-3594)gCt>gGt	p.A1198G	KDM5B_ENST00000367264.2_Missense_Mutation_p.A1234G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1198					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGTGTGGAAAGCATCCCTGCA	0.502000													7	63					0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114274375	114274375	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:114274375T>A	ENST00000357077.4	+	38	4654	c.4601T>A	c.(4600-4602)gTg>gAg	p.V1534E	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V1501E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1501					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTATTAAAGTGAAGGAGCTG	0.433000													18	41					0	0	0.006122	0	0
ZNF573	126231	broad.mit.edu	37	19	38262290	38262290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:38262290C>G	ENST00000590414.2	-	2	137	c.116G>C	c.(115-117)cGg>cCg	p.R39P	ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000585724.1_Intron			Q86YE8	ZN573_HUMAN	zinc finger protein 573	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACTCCTGCCGAGAGAAGTC	0.403000													10	21					0	0	0.008291	0	0
NLRP8	126205	broad.mit.edu	37	19	56490773	56490773	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:56490773C>T	ENST00000291971.3	+	9	2961	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	NLRP8_ENST00000590542.1_Silent_p.L945L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	964						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAAAACTGCCTGTTCACCTC	0.517000													18	105					0	0	0.006122	0	0
ZBBX	79740	broad.mit.edu	37	3	167068230	167068230	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:167068230A>G	ENST00000392766.2	-	9	846	c.506T>C	c.(505-507)cTc>cCc	p.L169P	ZBBX_ENST00000307529.5_Missense_Mutation_p.L169P|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.L169P|ZBBX_ENST00000392767.2_Missense_Mutation_p.L169P|ZBBX_ENST00000392764.1_Missense_Mutation_p.L140P	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	169						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCTGTGGAGCTTTAGTGC	0.313000													7	214					0	0	0.003080	0	0
TSPAN14	81619	broad.mit.edu	37	10	82267000	82267000	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:82267000T>A	ENST00000429989.2	+	4	372	c.149T>A	c.(148-150)cTc>cAc	p.L50H	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.L50H|TSPAN14_ENST00000341863.6_Missense_Mutation_p.L50H|TSPAN14_ENST00000372164.3_Missense_Mutation_p.L33H|TSPAN14_ENST00000372156.1_Missense_Mutation_p.L50H	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	50						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CTGTCCGACCTCACCAAAGTG	0.617000													4	35					0	0	0.000248	0	0
PRIM2	5558	broad.mit.edu	37	6	57398175	57398175	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:57398175A>T	ENST00000607273.1	+	10	965	c.878A>T	c.(877-879)aAa>aTa	p.K293I	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	293					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CAGTTACATAAAGCCTTGCGG	0.403000													30	164					0	0	0.002836	0	0
LRP1B	53353	broad.mit.edu	37	2	141113940	141113940	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:141113940T>A	ENST00000389484.3	-	75	12472	c.11501A>T	c.(11500-11502)cAg>cTg	p.Q3834L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3834	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGTTTCTCTGAAATCCAGG	0.343000										TSP Lung(27;0.18)			10	62					0	0	0.000978	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723389	58723389	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:58723389G>C	ENST00000300079.5	+	7	941	c.891G>C	c.(889-891)gtG>gtC	p.V297V	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.V266V	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	266						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ACATCTCTGTGTTGGAAGAAA	0.458000													4	41					0	0	0.000602	0	0
HECW1	23072	broad.mit.edu	37	7	43503287	43503287	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:43503287A>G	ENST00000395891.1	+	14	3285	c.2680A>G	c.(2680-2682)Aca>Gca	p.T894A	HECW1_ENST00000453890.1_Missense_Mutation_p.T860A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	894					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						AACCATTGCAACAGAGAGGTC	0.502000													9	71					0	0	0.006214	0	0
LAMC1	3915	broad.mit.edu	37	1	183085945	183085945	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:183085945G>A	ENST00000258341.4	+	8	1728	c.1471G>A	c.(1471-1473)Ggt>Agt	p.G491S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	491	Laminin EGF-like 4.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAATCCTCGGGGTTGCACACC	0.373000													4	66					0	0	0.000248	0	0
EXO1	9156	broad.mit.edu	37	1	242035554	242035554	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:242035554A>T	ENST00000366548.3	+	12	2081	c.1488A>T	c.(1486-1488)gcA>gcT	p.A496A	EXO1_ENST00000348581.5_Silent_p.A496A|EXO1_ENST00000518483.1_Silent_p.A496A	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	496					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAAGTGGTGCAGTTGTGGTTC	0.358000								Editing and processing nucleases					16	73					0	0	0.001882	0	0
MID2	11043	broad.mit.edu	37	X	107169959	107169959	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:107169959G>C	ENST00000262843.6	+	10	2412	c.1864G>C	c.(1864-1866)Gcc>Ccc	p.A622P	MID2_ENST00000443968.2_Missense_Mutation_p.A592P|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	622	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCAAGAATGCCTCCTCATG	0.463000													12	29					0	0	0.002450	0	0
NBEA	26960	broad.mit.edu	37	13	36141140	36141140	+	Silent	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:36141140A>C	ENST00000540320.1	+	45	7555	c.7021A>C	c.(7021-7023)Agg>Cgg	p.R2341R	NBEA_ENST00000379939.2_Silent_p.R2338R|NBEA_ENST00000310336.4_Silent_p.R2341R|NBEA_ENST00000537702.1_Silent_p.R134R|NBEA_ENST00000400445.3_Silent_p.R2341R			Q8NFP9	NBEA_HUMAN	neurobeachin	2341	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGAAACTTCAGGGATCTATC	0.363000													9	80					0	0	0.008291	0	0
SPAST	6683	broad.mit.edu	37	2	32289029	32289029	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:32289029G>A	ENST00000315285.3	+	1	254	c.129G>A	c.(127-129)gaG>gaA	p.E43E	SPAST_ENST00000345662.1_Silent_p.E43E	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	43	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ctccgcccgAGTCGCCGCATA	0.701000													7	19					0	0	0.004482	0	0
KLK4	9622	broad.mit.edu	37	19	51410331	51410331	+	Silent	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:51410331C>G	ENST00000324041.1	-	5	623	c.624G>C	c.(622-624)ggG>ggC	p.G208G	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	208	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TCAGGGGCCCCCCAGAGTCAC	0.532000													4	47					0	0	0.000248	0	0
PXDNL	137902	broad.mit.edu	37	8	52325810	52325810	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:52325810C>G	ENST00000356297.4	-	15	1904	c.1804G>C	c.(1804-1806)Ggt>Cgt	p.G602R	PXDNL_ENST00000543296.1_Missense_Mutation_p.G602R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	602					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTTGTCTACCCTGTATAGCT	0.338000													12	71					0	0	0.002450	0	0
NRXN2	9379	broad.mit.edu	37	11	64397967	64397967	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:64397967C>T	ENST00000265459.6	-	19	4125	c.3664G>A	c.(3664-3666)Gac>Aac	p.D1222N	NRXN2_ENST00000301894.2_Missense_Mutation_p.D176N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D1182N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1222N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1215N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1222	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TATTTGCCGTCGCTTACTATG	0.637000													7	75					0	0	0.004482	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813565	106813565	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:106813565G>A	ENST00000407775.2	+	8	1505	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	ZFPM2_ENST00000520492.1_Missense_Mutation_p.E287K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E287K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E150K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	419					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACCAGAAGCGAACTTCCCCA	0.498000													6	60					0	0	0.003080	0	0
ITGA5	3678	broad.mit.edu	37	12	54797565	54797565	+	Splice_Site	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:54797565T>A	ENST00000293379.4	-	17	1883		c.e17-2		RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)						angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTGTGAAACCTGAAGCCAGGG	0.557000													10	58					0	0	0.008291	0	0
ZNF778	197320	broad.mit.edu	37	16	89294603	89294603	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:89294603T>G	ENST00000433976.2	+	6	2155	c.1823T>G	c.(1822-1824)aTa>aGa	p.I608R	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.I566R	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ATCGTGCACATAAGAACCCAC	0.478000													4	93					0	0	0.000602	0	0
IL13RA1	3597	broad.mit.edu	37	X	117907897	117907897	+	Missense_Mutation	SNP	C	C	G	rs12853794	byFrequency	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:117907897C>G	ENST00000371666.3	+	9	1132	c.1065C>G	c.(1063-1065)atC>atG	p.I355M	IL13RA1_ENST00000371637.3_Missense_Mutation_p.I154M	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	355						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TTCCAGTCATCGTCGCAGGTG	0.423000													7	121					0	0	0.001984	0	0
KRIT1	889	broad.mit.edu	37	7	91870375	91870375	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:91870375G>C	ENST00000394507.1	-	6	977	c.194C>G	c.(193-195)aCa>aGa	p.T65R	KRIT1_ENST00000394505.2_Missense_Mutation_p.T65R|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65R|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65R|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65R	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGCCTTGTGTTATTTCACT	0.348000													3	63					0	0	0.004672	0	0
SFXN5	94097	broad.mit.edu	37	2	73195591	73195591	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:73195591C>T	ENST00000272433.2	-	12	943	c.813G>A	c.(811-813)atG>atA	p.M271I	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	271					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CCAGCATGGACATGACGATCG	0.662000													5	23					0	0	0.001984	0	0
ITGAX	3687	broad.mit.edu	37	16	31374564	31374564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:31374564G>T	ENST00000268296.4	+	14	1700	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V527L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	527					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCTCTGACAGTGCTGGGGGA	0.602000													24	120					8.24728e-16	1.93081e-15	0.004656	1	0
NDUFS6	4726	broad.mit.edu	37	5	1815993	1815993	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:1815993G>T	ENST00000274137.5	+	4	356	c.338G>T	c.(337-339)gGt>gTt	p.G113V		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	113					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GGCACATGCGGTTACTGTGGG	0.473000													6	145					2.0095e-06	3.81126e-06	0.001984	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48565366	48565366	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:48565366G>A	ENST00000354276.3	-	14	1473	c.1146C>T	c.(1144-1146)caC>caT	p.H382H	PLA2G4C_ENST00000599921.1_Silent_p.H382H|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Silent_p.H392H|PLA2G4C_ENST00000413144.2_Silent_p.H382H|CTD-2265M8.2_ENST00000596552.1_RNA	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	382	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CATCCACCAGGTGGAGGTGCT	0.582000													11	23					0	0	0.008291	0	0
FAM208B	54906	broad.mit.edu	37	10	5799599	5799599	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:5799599G>A	ENST00000328090.5	+	17	7474	c.6849G>A	c.(6847-6849)gtG>gtA	p.V2283V		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2283																	GAGGCTTTGTGATATCAGATG	0.428000													7	178					0	0	0.003080	0	0
SLC39A14	23516	broad.mit.edu	37	8	22275274	22275274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:22275274G>T	ENST00000381237.1	+	8	1377	c.1258G>T	c.(1258-1260)Ggc>Tgc	p.G420C	SLC39A14_ENST00000240095.6_Missense_Mutation_p.G420C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.G420C|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G420C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	420						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CATCCTGGCCGGCAGCCACTT	0.512000													9	57					7.48243e-07	1.44041e-06	0.006214	1	0
IGHV1-69	28461	broad.mit.edu	37	14	107170381	107170381	+	RNA	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:107170381G>A	ENST00000390633.2	-	0	47																											GATGAGCTGTGCTCCCAGGGG	0.502000													6	38					0	0	0.001984	0	0
TLR10	81793	broad.mit.edu	37	4	38775676	38775676	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:38775676C>A	ENST00000308973.4	-	4	2141	c.1536G>T	c.(1534-1536)caG>caT	p.Q512H	TLR10_ENST00000508334.1_Missense_Mutation_p.Q512H|TLR10_ENST00000506111.1_Missense_Mutation_p.Q512H|TLR10_ENST00000361424.2_Missense_Mutation_p.Q512H	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	512					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTTTAACTTCCTGGCAGCTCT	0.398000													15	59					7.93312e-07	1.52391e-06	0.002450	1	0
C7orf34	135927	broad.mit.edu	37	7	142636718	142636718	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:142636718C>A	ENST00000409607.3	+	1	116	c.75C>A	c.(73-75)tcC>tcA	p.S25S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TGGGCAGGTCCATGCCTCCCC	0.657000													16	35					5.35267e-07	1.03485e-06	0.007413	1	0
RSPH6A	81492	broad.mit.edu	37	19	46307688	46307688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:46307688G>T	ENST00000221538.3	-	3	1617	c.1475C>A	c.(1474-1476)aCg>aAg	p.T492K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.T492K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.T228K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	492						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCTGACCTGCGTGGCGGCCGA	0.657000													17	40					1.02788e-11	2.27044e-11	0.004990	1	0
EXOC3L2	90332	broad.mit.edu	37	19	45721530	45721530	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:45721530C>T	ENST00000413988.1	-	7	628	c.588G>A	c.(586-588)gaG>gaA	p.E196E	EXOC3L2_ENST00000252482.3_Silent_p.E196E	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	196										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CATCCAGGGCCTCCGGGCTGC	0.672000													8	16					0	0	0.003080	0	0
ITGA1	3672	broad.mit.edu	37	5	52240831	52240831	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:52240831C>G	ENST00000282588.6	+	27	3802	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1115					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAAAATGCATCTCTGGTTTTA	0.313000													10	180					0	0	0.000978	0	0
AZGP1	563	broad.mit.edu	37	7	99565997	99565997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:99565997C>A	ENST00000411734.1	-	3	390	c.385G>T	c.(385-387)Gga>Tga	p.G129*	AZGP1_ENST00000292401.4_Nonsense_Mutation_p.G132*			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	132					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGAATGCTCCGCTGCTTCTG	0.493000													107	297					2.55378e-55	6.28999e-55	0.003610	1	0
OR8B8	26493	broad.mit.edu	37	11	124310874	124310874	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:124310874C>T	ENST00000328064.2	-	1	180	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CCACAGTGACCACGTAGAAGC	0.498000													8	58					0	0	0.006214	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687288	151687288	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:151687288C>G	ENST00000325144.4	-	3	1053	c.913G>C	c.(913-915)Gat>Cat	p.D305H		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TCCATGGCATCTTTCCCGAGG	0.547000													26	96					0	0	0.001786	0	0
PHF20L1	51105	broad.mit.edu	37	8	133790148	133790148	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:133790148T>C	ENST00000395386.2	+	2	373	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.L25S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000395383.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.L25S|PHF20L1_ENST00000315808.10_Missense_Mutation_p.L25S|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	25	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGGACTACTTACAAAAATGG	0.368000													3	128					0	0	0.004672	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318936	130318936	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:130318936G>T	ENST00000299164.2	+	1	68	c.68G>T	c.(67-69)cGg>cTg	p.R23L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	23					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGCCAGAGCGGGAGGTAGTC	0.662000													6	34					0.00116845	0.00189609	0.001168	1	0
GABRB1	2560	broad.mit.edu	37	4	47408806	47408806	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:47408806G>A	ENST00000295454.3	+	8	1235	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	GABRB1_ENST00000538619.1_Missense_Mutation_p.V245M	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	315					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGTTGCTTTGTGTTTGTGTT	0.463000													5	59					0	0	0.001168	0	0
LTBP1	4052	broad.mit.edu	37	2	33526644	33526644	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:33526644T>A	ENST00000404816.2	+	22	3767	c.3414T>A	c.(3412-3414)acT>acA	p.T1138T	LTBP1_ENST00000354476.3_Silent_p.T1139T|LTBP1_ENST00000402934.1_Silent_p.T759T|LTBP1_ENST00000404525.1_Silent_p.T759T|LTBP1_ENST00000418533.2_Silent_p.T812T|LTBP1_ENST00000272273.5_Silent_p.T78T|LTBP1_ENST00000390003.4_Silent_p.T813T|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Silent_p.T812T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1138	EGF-like 10; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCAGGAACACTGAGGGCTCTT	0.458000													5	95					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179416915	179416915	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:179416915T>C	ENST00000589042.1	-	335	90936	c.90712A>G	c.(90712-90714)Aag>Gag	p.K30238E	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21298E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K21173E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27670E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21365E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K28597E|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28597	Fibronectin type-III 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCAGCCTTGATTTCATCA	0.433000													16	143					0	0	0.004007	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:40359793C>G	ENST00000338305.6	-	3	2801	c.2259G>C	c.(2257-2259)acG>acC	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													3	46					0	0	0.004672	0	0
UBAC2	337867	broad.mit.edu	37	13	99992718	99992718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:99992718G>T	ENST00000376440.2	+	5	1104	c.601G>T	c.(601-603)Gga>Tga	p.G201*	UBAC2_ENST00000403766.3_Nonsense_Mutation_p.G236*|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	236						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATTGGGATGGGAGCCACGCT	0.542000													15	91					3.27435e-08	6.51248e-08	0.002450	1	0
SAMSN1	64092	broad.mit.edu	37	21	15858241	15858241	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr21:15858241T>C	ENST00000285670.2	-	9	1492	c.1318A>G	c.(1318-1320)Agt>Ggt	p.S440G	SAMSN1_ENST00000400564.1_Missense_Mutation_p.S204G|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S372G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	372					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTTCAGTCACTTGGCTCTGTG	0.363000													14	87					0	0	0.004007	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704587	52704587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:52704587G>T	ENST00000287727.3	+	4	1670	c.1498G>T	c.(1498-1500)Gat>Tat	p.D500Y	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D500Y|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D500Y|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D500Y	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	500					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCCAAAGAAGATTCAGTAAC	0.393000													16	63					1.02788e-11	2.27044e-11	0.004990	1	0
OR4C13	283092	broad.mit.edu	37	11	49974488	49974488	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:49974488A>T	ENST00000555099.1	+	1	546	c.514A>T	c.(514-516)Ata>Tta	p.I172L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCCTAATGTCATAGATCACTT	0.438000													12	123					0	0	0.000978	0	0
YIPF5	81555	broad.mit.edu	37	5	143543795	143543795	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:143543795G>C	ENST00000274496.5	-	4	443	c.309C>G	c.(307-309)atC>atG	p.I103M	YIPF5_ENST00000448443.2_Missense_Mutation_p.I103M|YIPF5_ENST00000513112.1_Missense_Mutation_p.I49M	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	103	Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTTTTTGCCAGATGTGGTCAA	0.323000													6	23					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168100000	168100000	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:168100000C>A	ENST00000409195.1	+	9	2187	c.2098C>A	c.(2098-2100)Cat>Aat	p.H700N	XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	525					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAACTCAACATCTAGATCA	0.383000													8	38					0.000157383	0.000267462	0.003080	1	0
NAA60	79903	broad.mit.edu	37	16	3529593	3529593	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:3529593A>G	ENST00000407558.4	+	4	536	c.233A>G	c.(232-234)cAt>cGt	p.H78R	NAA60_ENST00000572584.1_Missense_Mutation_p.H78R|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000577013.1_Missense_Mutation_p.H78R|NAA60_ENST00000575076.1_Missense_Mutation_p.H78R|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000576916.1_Missense_Mutation_p.H78R|NAA60_ENST00000570819.1_Missense_Mutation_p.H78R|NAA60_ENST00000572942.1_Missense_Mutation_p.H78R|NAA60_ENST00000421765.3_Missense_Mutation_p.H78R|NAA60_ENST00000414063.2_Missense_Mutation_p.H78R|NAA60_ENST00000360862.5_Missense_Mutation_p.H13R|NAA60_ENST00000573580.1_Missense_Mutation_p.H13R|NAA60_ENST00000424546.2_Missense_Mutation_p.H85R|LA16c-306E5.3_ENST00000574423.2_RNA	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	78	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						ACCAAAATACATAAAGAGGTA	0.488000													4	31					0	0	0.000248	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394727	17394727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:17394727G>T	ENST00000394458.3	+	5	1430	c.1154G>T	c.(1153-1155)aGg>aTg	p.R385M	ANKLE1_ENST00000433424.2_Intron|ANKLE1_ENST00000594072.1_Intron|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Intron	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	385	LEM.					nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCCTTCACCAGGCAGTTGTAC	0.582000													12	63					5.50884e-06	1.00659e-05	0.001368	1	0
ULK4	54986	broad.mit.edu	37	3	41996248	41996248	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:41996248C>G	ENST00000301831.4	-	2	466	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q	ULK4_ENST00000414606.1_Missense_Mutation_p.E2Q|ULK4_ENST00000420927.1_Missense_Mutation_p.E2Q	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	2							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATAAAGTTTTCCATCTCTGGG	0.383000													4	60					0	0	0.000602	0	0
ZMAT4	79698	broad.mit.edu	37	8	40438748	40438748	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:40438748T>A	ENST00000297737.6	-	6	756	c.610A>T	c.(610-612)Agt>Tgt	p.S204C	ZMAT4_ENST00000315769.7_Missense_Mutation_p.S128C	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	204						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGGGAGACACTGCAGATGGTA	0.453000													52	101					0	0	0.003610	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953628	161953628	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:161953628G>C	ENST00000294794.3	-	8	2513	c.2090C>G	c.(2089-2091)tCc>tGc	p.S697C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S698C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.S180C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	697	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAAAGCGTAGGAGATGTTGGC	0.547000													48	204					0	0	0.003610	0	0
APCDD1	147495	broad.mit.edu	37	18	10468599	10468599	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:10468599G>A	ENST00000355285.4	+	2	546	c.192G>A	c.(190-192)agG>agA	p.R64R	APCDD1_ENST00000578882.1_Silent_p.R64R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	64					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGGTGCAAGGATCACAGTGC	0.542000													7	71					0	0	0.001984	0	0
DDX4	54514	broad.mit.edu	37	5	55094310	55094310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:55094310G>T	ENST00000505374.1	+	18	1618	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V	DDX4_ENST00000514278.2_Missense_Mutation_p.G489V|DDX4_ENST00000353507.5_Missense_Mutation_p.G475V|DDX4_ENST00000511853.1_Missense_Mutation_p.G360V|DDX4_ENST00000354991.5_Missense_Mutation_p.G475V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	509					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GGACAAGTGGGTGGAGCATGT	0.393000													9	78					0.00621372	0.00980023	0.006214	1	0
WBSCR17	64409	broad.mit.edu	37	7	70880979	70880979	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:70880979G>C	ENST00000333538.5	+	4	1328	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	232	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGCTCGCATTGAGGGCTGGAA	0.582000													9	61					0	0	0.006214	0	0
DOCK3	1795	broad.mit.edu	37	3	51395231	51395231	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:51395231G>A	ENST00000266037.9	+	45	4749	c.4726G>A	c.(4726-4728)Gct>Act	p.A1576T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1576	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGGAGATGCTGAGAAGAT	0.498000													7	75					0	0	0.003080	0	0
POP1	10940	broad.mit.edu	37	8	99140740	99140740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:99140740G>T	ENST00000401707.2	+	4	539	c.458G>T	c.(457-459)aGa>aTa	p.R153I	POP1_ENST00000349693.3_Missense_Mutation_p.R153I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	153					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)			CGCCTTCCCAGACGGTTACAG	0.453000													29	46					1.99505e-19	4.82138e-19	0.002445	1	0
TIMD4	91937	broad.mit.edu	37	5	156381614	156381614	+	Missense_Mutation	SNP	G	G	T	rs75303251		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:156381614G>T	ENST00000274532.2	-	2	268	c.212C>A	c.(211-213)aCt>aAt	p.T71N	TIMD4_ENST00000407087.3_Missense_Mutation_p.T71N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	71	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTCCATCAGTGCGGATGAG	0.522000													5	74					1.23904e-05	2.21451e-05	0.000602	1	0
EPHB1	2047	broad.mit.edu	37	3	134967256	134967256	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:134967256G>T	ENST00000398015.3	+	14	2965	c.2595G>T	c.(2593-2595)cgG>cgT	p.R865R	EPHB1_ENST00000493838.1_Silent_p.R426R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	865	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGAAGGACCGGAACAGCCGGC	0.587000													13	52					7.03913e-09	1.43171e-08	0.001368	1	0
RYR2	6262	broad.mit.edu	37	1	237865352	237865352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:237865352G>C	ENST00000366574.2	+	66	9759	c.9442G>C	c.(9442-9444)Gtg>Ctg	p.V3148L	RYR2_ENST00000542537.1_Missense_Mutation_p.V3132L|RYR2_ENST00000360064.6_Missense_Mutation_p.V3146L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3148					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTATTTACGTGGAGAGGTA	0.328000													5	25					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237819179	237819179	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:237819179C>A	ENST00000366574.2	+	53	8341	c.8024C>A	c.(8023-8025)gCt>gAt	p.A2675D	RYR2_ENST00000542537.1_Missense_Mutation_p.A2659D|RYR2_ENST00000360064.6_Missense_Mutation_p.A2673D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2675	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCGGGAGCTTTGCCTCCA	0.408000													4	17					1.23904e-05	2.21451e-05	0.000602	1	0
C2orf71	388939	broad.mit.edu	37	2	29295786	29295786	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:29295786A>G	ENST00000331664.5	-	1	1341	c.1342T>C	c.(1342-1344)Ttg>Ctg	p.L448L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	448					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCCAGCTTCAAAGGTGGGGAG	0.552000													5	69					0	0	0.001168	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432096	117432096	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:117432096C>G	ENST00000160373.3	-	4	1245	c.1154G>C	c.(1153-1155)gGa>gCa	p.G385A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	385	Pro-rich.							p.G385L(1)		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)		AGTGCTTGGTCCATTTTCCTC	0.547000													31	92					0	0	0.002445	0	0
TBCA	6902	broad.mit.edu	37	5	77072075	77072075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:77072075C>A	ENST00000306388.6	-	1	36	c.7G>T	c.(7-9)Gat>Tat	p.D3Y	TBCA_ENST00000518338.2_Missense_Mutation_p.D3Y|TBCA_ENST00000520361.1_Missense_Mutation_p.D3Y|TBCA_ENST00000380377.4_Missense_Mutation_p.D3Y|TBCA_ENST00000520039.1_Missense_Mutation_p.D3Y|TBCA_ENST00000522370.1_Intron			O75347	TBCA_HUMAN	tubulin folding cofactor A	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		ACGCGAGGATCGGCCATGGTC	0.682000													3	4					0.004672	0.00742072	0.004672	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576479	158576479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:158576479G>T	ENST00000361284.1	+	1	251	c.251G>T	c.(250-252)gGc>gTc	p.G84V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATGCTCTCTGGCCTGGCTGGG	0.552000													10	279					0.000978159	0.00160176	0.000978	1	0
CDH6	1004	broad.mit.edu	37	5	31318111	31318111	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:31318111C>A	ENST00000514738.1	+	11	2227	c.1797C>A	c.(1795-1797)gcC>gcA	p.A599A	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTTATCTGCCTCCCCCATTA	0.473000													5	50					0.000602214	0.000993378	0.000602	1	0
HRNR	388697	broad.mit.edu	37	1	152187614	152187614	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:152187614G>C	ENST00000368801.2	-	3	6566	c.6491C>G	c.(6490-6492)tCt>tGt	p.S2164C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2164					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)			ACGGGAGCCAGACCCATGCTG	0.622000													40	1251					0	0	0.007291	0	0
RYR3	6263	broad.mit.edu	37	15	33765620	33765620	+	Splice_Site	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:33765620G>T	ENST00000389232.4	+	2	122	c.51_splice	c.e2-1	p.E18_splice	RYR3_ENST00000415757.3_Splice_Site_p.E18_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	18					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		CTCCTGGCAGGAGGATGAAGT	0.562000													18	101					1.67942e-08	3.37762e-08	0.006122	1	0
TSKS	60385	broad.mit.edu	37	19	50266472	50266472	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:50266472C>T	ENST00000246801.3	-	1	115	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	11							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTCTTTGGACTGCCAGATCG	0.652000													20	79					0	0	0.002780	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931451	62931451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:62931451G>T	ENST00000306494.6	-	9	1488	c.1489C>A	c.(1489-1491)Ccc>Acc	p.P497T	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	497					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATGATCCAGGGCAGGGGTCGA	0.507000													12	161					5.50884e-06	1.00659e-05	0.001368	1	0
CLEC4F	165530	broad.mit.edu	37	2	71046928	71046928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:71046928G>T	ENST00000272367.2	-	2	233	c.157C>A	c.(157-159)Ctt>Att	p.L53I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.L53I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	53					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						AGAGTCACAAGAGAGAAGACC	0.552000													6	48					0.00198382	0.00319043	0.001984	1	0
NCAN	1463	broad.mit.edu	37	19	19327781	19327781	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:19327781T>A	ENST00000252575.5	+	2	62	c.19T>A	c.(19-21)Tgg>Agg	p.W7R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	7					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCGTTTGTCTGGGCCTTGGG	0.577000													33	128					0	0	0.004289	0	0
POLD1	5424	broad.mit.edu	37	19	50902661	50902661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:50902661G>T	ENST00000440232.2	+	3	289	c.236G>T	c.(235-237)tGg>tTg	p.W79L	POLD1_ENST00000599857.1_Missense_Mutation_p.W79L|POLD1_ENST00000595904.1_Missense_Mutation_p.W79L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	79					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GATCCTCGCTGGCTTCGGCCC	0.587000								DNA polymerases (catalytic subunits)					6	40					8.12818e-05	0.000140254	0.001984	1	0
CCDC108	255101	broad.mit.edu	37	2	219903121	219903121	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:219903121A>G	ENST00000341552.5	-	4	416	c.333T>C	c.(331-333)agT>agC	p.S111S	CCDC108_ENST00000409865.3_Silent_p.S100S|CCDC108_ENST00000324264.6_Silent_p.S46S|CCDC108_ENST00000295729.2_Silent_p.S46S|CCDC108_ENST00000410037.1_Silent_p.S46S|CCDC108_ENST00000453220.1_Silent_p.S111S|CCDC108_ENST00000441968.1_Silent_p.S111S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	111						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCAGGCACTCATGGCTG	0.647000													3	40					0	0	0.000248	0	0
OR52A5	390054	broad.mit.edu	37	11	5153145	5153145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:5153145G>T	ENST00000307388.1	-	1	727	c.728C>A	c.(727-729)aCa>aAa	p.T243K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCAATGCATGTATTAAAGGC	0.403000													6	47					0.00116845	0.00189609	0.001168	1	0
MEP1A	4224	broad.mit.edu	37	6	46801135	46801135	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:46801135G>T	ENST00000230588.4	+	11	1478	c.1469G>T	c.(1468-1470)aGt>aTt	p.S490I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	490	MATH.				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)			CATGTGTGCAGTGGGGAGAAC	0.473000													31	139					9.65021e-13	2.16348e-12	0.002096	1	0
STIP1	10963	broad.mit.edu	37	11	63961668	63961668	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:63961668C>T	ENST00000358794.5	+	3	921	c.368C>T	c.(367-369)tCa>tTa	p.S123L	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.S76L|STIP1_ENST00000305218.4_Missense_Mutation_p.S76L|STIP1_ENST00000538945.1_Intron			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	76					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAGGGCTATTCACGAAAAGCA	0.418000													38	130					0	0	0.008740	0	0
C10orf11	83938	broad.mit.edu	37	10	78316985	78316985	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:78316985G>A	ENST00000496424.2	+	3	983	c.107G>A	c.(106-108)cGc>cAc	p.R36H	C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Missense_Mutation_p.R179H			Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	179										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GGGAAGTGTCGCTACGTTTAC	0.448000													5	83					0	0	0.001984	0	0
ZNF831	128611	broad.mit.edu	37	20	57829560	57829560	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:57829560G>C	ENST00000371030.2	+	5	4796	c.4796G>C	c.(4795-4797)gGg>gCg	p.G1599A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1599						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TATGGGTGTGGGGAAATGACT	0.483000													12	93					0	0	0.001368	0	0
ZIC4	84107	broad.mit.edu	37	3	147114060	147114060	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:147114060C>A	ENST00000383075.3	-	3	779	c.267G>T	c.(265-267)ctG>ctT	p.L89L	ZIC4_ENST00000484399.1_Silent_p.L89L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.L139L|ZIC4_ENST00000425731.3_Silent_p.L127L|ZIC4_ENST00000473123.1_Silent_p.L89L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	89	Poly-Ala.					nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCAGCTGCCAGGGCGTCGC	0.701000													4	21					0.00024832	0.000418052	0.000248	1	0
THAP1	55145	broad.mit.edu	37	8	42694370	42694370	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:42694370C>T	ENST00000254250.3	-	2	456	c.226G>A	c.(226-228)Gct>Act	p.A76T	THAP1_ENST00000345117.2_Intron|THAP1_ENST00000532093.1_5'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	76					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGGGCACAGCATTCTCTTTC	0.353000													15	165					0	0	0.004990	0	0
PCDH15	65217	broad.mit.edu	37	10	55913019	55913019	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:55913019C>A	ENST00000373965.2	-	15	2040	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	PCDH15_ENST00000373955.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395430.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.G542V|PCDH15_ENST00000414778.1_Missense_Mutation_p.G547V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395445.1_Missense_Mutation_p.G549V|PCDH15_ENST00000395438.1_Missense_Mutation_p.G542V|PCDH15_ENST00000373957.3_Missense_Mutation_p.G520V|PCDH15_ENST00000320301.6_Missense_Mutation_p.G542V|PCDH15_ENST00000409834.1_Missense_Mutation_p.G153V|PCDH15_ENST00000395433.1_Missense_Mutation_p.G520V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G542V|PCDH15_ENST00000395432.2_Missense_Mutation_p.G505V|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	542	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGATCTCCCCATTTGACCC	0.453000										HNSCC(58;0.16)			9	64					2.17888e-05	3.86353e-05	0.006214	1	0
NELL2	4753	broad.mit.edu	37	12	45171025	45171025	+	Splice_Site	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:45171025T>G	ENST00000429094.2	-	6	1183	c.679_splice	c.e6+1	p.T227_splice	NELL2_ENST00000395487.2_Splice_Site_p.T226_splice|NELL2_ENST00000549027.1_Splice_Site_p.T226_splice|NELL2_ENST00000437801.2_Splice_Site_p.T277_splice|NELL2_ENST00000551601.1_Splice_Site_p.T226_splice|NELL2_ENST00000452445.2_Splice_Site_p.T227_splice|NELL2_ENST00000333837.4_Splice_Site_p.T250_splice	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	227	TSP N-terminal.				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)		ATAGACTTACTGCGATTAAGA	0.388000													16	52					0	0	0.007413	0	0
RYR1	6261	broad.mit.edu	37	19	38934885	38934885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:38934885C>A	ENST00000355481.4	+	6	652	c.521C>A	c.(520-522)tCc>tAc	p.S174Y	RYR1_ENST00000359596.3_Missense_Mutation_p.S174Y|RYR1_ENST00000360985.3_Missense_Mutation_p.S174Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	174	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCAGTGTCTCCTCCGAGCGC	0.597000													4	20					0.00024832	0.000418052	0.000248	1	0
KCNH4	23415	broad.mit.edu	37	17	40322232	40322232	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:40322232G>A	ENST00000264661.3	-	8	1615	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A428V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	428					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTACAGTGCCGCGATGTAGGC	0.607000													7	30					0	0	0.003080	0	0
GPR107	57720	broad.mit.edu	37	9	132837961	132837961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:132837961A>T	ENST00000372406.1	+	2	695	c.188A>T	c.(187-189)aAg>aTg	p.K63M	GPR107_ENST00000347136.6_Missense_Mutation_p.K63M|GPR107_ENST00000372410.3_Missense_Mutation_p.K63M	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	63						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GGCTTCTTCAAGGATGGGTAC	0.408000													12	42					0	0	0.001855	0	0
MALT1	10892	broad.mit.edu	37	18	56414822	56414822	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:56414822A>T	ENST00000348428.3	+	17	2481	c.2223A>T	c.(2221-2223)gcA>gcT	p.A741A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.A730A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	741					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAGTTCTGCAGCCACCTCAG	0.448000			T	BIRC3	MALT								15	145					0	0	0.002450	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14808564	14808564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:14808564G>C	ENST00000358984.4	+	25	2479	c.2299G>C	c.(2299-2301)Gat>Cat	p.D767H	ANKRD30B_ENST00000579292.1_3'UTR	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	852										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCCTGATAAAGATGGTCTTCT	0.289000													5	31					0	0	0.001168	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432789	111432789	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:111432789G>A	ENST00000393934.3	+	3	1250	c.680G>A	c.(679-681)gGa>gAa	p.G227E	PLCXD2_ENST00000477665.1_Missense_Mutation_p.G227E|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	227					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CTGTGGCCAGGAAAGAAGATT	0.488000													7	54					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415801	105415801	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:105415801G>A	ENST00000333244.5	-	7	6106	c.5987C>T	c.(5986-5988)cCg>cTg	p.P1996L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1996						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGAACGACGGCATCTTGAA	0.617000													59	262					0	0	0.003610	0	0
LAMB1	3912	broad.mit.edu	37	7	107616205	107616205	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:107616205T>G	ENST00000393561.1	-	8	1374	c.1190A>C	c.(1189-1191)aAc>aCc	p.N397T	LAMB1_ENST00000393560.1_Missense_Mutation_p.N373T|LAMB1_ENST00000222399.6_Missense_Mutation_p.N373T			P07942	LAMB1_HUMAN	laminin, beta 1	373	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTCACAGTTGCGCCCCAT	0.517000													7	88					0	0	0.003080	0	0
AOC4P	90586	broad.mit.edu	37	17	41020640	41020640	+	RNA	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:41020640C>T	ENST00000585538.1	+	0	1479					NR_002773.1																						TCTCTACTCCCACTACTTTGG	0.517000													4	30					0	0	0.000248	0	0
NLRP13	126204	broad.mit.edu	37	19	56424590	56424590	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:56424590G>T	ENST00000588751.1	-	5	617	c.593C>A	c.(592-594)cCt>cAt	p.P198H	NLRP13_ENST00000342929.3_Missense_Mutation_p.P198H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	198							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTCTTTAGGCCAACTGAT	0.483000													15	198					6.31663e-08	1.25356e-07	0.003163	1	0
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:60161321G>C	ENST00000358246.1	+	6	768	c.575G>C	c.(574-576)cGg>cCg	p.R192P	MS4A7_ENST00000300184.3_Missense_Mutation_p.R237P|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192P|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373000													17	110					0	0	0.006122	0	0
CNGB3	54714	broad.mit.edu	37	8	87660047	87660047	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:87660047T>A	ENST00000320005.5	-	8	1019	c.972A>T	c.(970-972)agA>agT	p.R324S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCCTATTTGCTCTAAACATTG	0.289000													8	114					0	0	0.004482	0	0
RASIP1	54922	broad.mit.edu	37	19	49225109	49225109	+	Splice_Site	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:49225109A>C	ENST00000222145.4	-	11	2897		c.e11+1			NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1						signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ATTGCTCCTCACCTGTGTCCA	0.627000													10	78					0	0	0.008291	0	0
TNNT1	7138	broad.mit.edu	37	19	55649411	55649411	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:55649411G>C	ENST00000588981.1	-	10	623	c.419C>G	c.(418-420)gCc>gGc	p.A140G	TNNT1_ENST00000587758.1_Missense_Mutation_p.A129G|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.A37G|TNNT1_ENST00000356783.5_Missense_Mutation_p.A129G|TNNT1_ENST00000585321.2_Missense_Mutation_p.A70G|TNNT1_ENST00000587465.2_Missense_Mutation_p.A70G|TNNT1_ENST00000536926.1_Missense_Mutation_p.A129G|TNNT1_ENST00000291901.8_Missense_Mutation_p.A140G	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	140					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCGCTTCTTGGCCTCTTCCTC	0.567000													19	77					0	0	0.002299	0	0
SPATA16	83893	broad.mit.edu	37	3	172634254	172634254	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:172634254G>T	ENST00000351008.3	-	9	1539	c.1356C>A	c.(1354-1356)tcC>tcA	p.S452S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	452					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCACACCTGAGGATGCAGGAA	0.483000													39	141					2.26627e-22	5.53636e-22	0.007835	1	0
CADM1	23705	broad.mit.edu	37	11	115099869	115099869	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:115099869C>T	ENST00000542447.2	-	5	813	c.685G>A	c.(685-687)Gga>Aga	p.G229R	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.G229R|CADM1_ENST00000537058.1_Missense_Mutation_p.G229R|CADM1_ENST00000536727.1_Missense_Mutation_p.G229R|CADM1_ENST00000331581.6_Missense_Mutation_p.G229R	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	229	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGCAGGTTTCCAGTGACCGCA	0.522000													6	32					0	0	0.003080	0	0
ABCB1	5243	broad.mit.edu	37	7	87145854	87145854	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:87145854C>A	ENST00000265724.3	-	25	3472	c.3055G>T	c.(3055-3057)Gac>Tac	p.D1019Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D955Y|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1019					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGTAGCTGTCAATCAAAGGG	0.433000													35	105					3.76114e-14	8.69219e-14	0.004289	1	0
DZIP1L	199221	broad.mit.edu	37	3	137807303	137807303	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:137807303C>A	ENST00000327532.2	-	6	1279	c.917G>T	c.(916-918)gGa>gTa	p.G306V	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.G306V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	306						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						TCGCAGTGATCCCAGCTTGGA	0.522000													19	80					2.32416e-17	5.49847e-17	0.002299	1	0
C1QA	712	broad.mit.edu	37	1	22965758	22965758	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:22965758A>T	ENST00000374642.3	+	3	800	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	C1QA_ENST00000402322.1_Missense_Mutation_p.Q199L	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	199	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCTCTTCCAGGTGGTGTCA	0.597000													9	71					0	0	0.000978	0	0
PPM1A	5494	broad.mit.edu	37	14	60758173	60758173	+	Splice_Site	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:60758173G>C	ENST00000395076.4	+	5	1549		c.e5+1		PPM1A_ENST00000325642.3_Splice_Site|PPM1A_ENST00000529574.1_Splice_Site	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A						cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGACGACACTGTAAGTAGCAT	0.388000													4	55					0	0	0.000248	0	0
IFNA6	3443	broad.mit.edu	37	9	21350513	21350513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:21350513T>A	ENST00000380210.1	-	1	864	c.374A>T	c.(373-375)cAg>cTg	p.Q125L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	125					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCACACCTCCTGCATCACACA	0.483000													26	209					0	0	0.005443	0	0
ITIH6	347365	broad.mit.edu	37	X	54783877	54783877	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:54783877G>C	ENST00000218436.6	-	8	2659	c.2630C>G	c.(2629-2631)cCa>cGa	p.P877R		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	877	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATGGGGGTTTGGGGTCTCAGG	0.483000													16	33					0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40733255	40733255	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:40733255C>A	ENST00000373198.3	-	26	3795	c.3560G>T	c.(3559-3561)aGg>aTg	p.R1187M	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1164M|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1174M|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1165M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1175M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1155M|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1168M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1165	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGGTCCAGCCTGCTGATATT	0.483000													30	90					2.81731e-10	6.03039e-10	0.002096	1	0
CHD7	55636	broad.mit.edu	37	8	61734669	61734669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:61734669G>T	ENST00000423902.2	+	11	3401	c.2922G>T	c.(2920-2922)gaG>gaT	p.E974D	CHD7_ENST00000525508.1_Missense_Mutation_p.E974D|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	974					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.R969fs*16(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCAGTTGGAGGGAGTAAACT	0.353000													18	47					3.51602e-12	7.82401e-12	0.008871	1	0
DCT	1638	broad.mit.edu	37	13	95121091	95121091	+	Silent	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:95121091C>G	ENST00000377028.5	-	2	917	c.504G>C	c.(502-504)ggG>ggC	p.G168G	DCT_ENST00000446125.1_Silent_p.G168G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	168					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTCCATTGGGCCCAAGCAGGC	0.483000													27	178					0	0	0.006320	0	0
DROSHA	29102	broad.mit.edu	37	5	31511174	31511174	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:31511174T>A	ENST00000511367.2	-	8	1644	c.1400A>T	c.(1399-1401)gAa>gTa	p.E467V	DROSHA_ENST00000344624.3_Missense_Mutation_p.E467V|DROSHA_ENST00000442743.1_Missense_Mutation_p.E430V|DROSHA_ENST00000513349.1_Missense_Mutation_p.E430V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	467					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTTGGAGGTTCCCACGGAGG	0.478000													9	101					0	0	0.006214	0	0
DENND2A	27147	broad.mit.edu	37	7	140302057	140302057	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:140302057C>T	ENST00000275884.6	-	2	558	c.141G>A	c.(139-141)aaG>aaA	p.K47K	DENND2A_ENST00000537639.1_Silent_p.K47K|DENND2A_ENST00000496613.1_Silent_p.K47K|DENND2A_ENST00000492720.1_Silent_p.K47K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	47										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ATATCTTGTCCTTTATGTTGA	0.572000													11	119					0	0	0.000978	0	0
USH2A	7399	broad.mit.edu	37	1	215963417	215963417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:215963417G>T	ENST00000366943.2	-	51	10552	c.10166C>A	c.(10165-10167)aCt>aAt	p.T3389N	USH2A_ENST00000307340.3_Missense_Mutation_p.T3389N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3389					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATCATTCCAGTTGAAATCTT	0.348000										HNSCC(13;0.011)			10	49					9.70103e-10	2.04724e-09	0.008291	1	0
HBD	3045	broad.mit.edu	37	11	5255305	5255305	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:5255305A>G	ENST00000380299.3	-	2	445	c.231T>C	c.(229-231)gcT>gcC	p.A77A	HBD_ENST00000292901.3_Silent_p.A77A	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	77					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCAGGTGAGCCAGGCCAT	0.537000													16	82					0	0	0.004990	0	0
OR4K5	79317	broad.mit.edu	37	14	20389159	20389159	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:20389159T>A	ENST00000315915.4	+	1	419	c.394T>A	c.(394-396)Tat>Aat	p.Y132N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCTTATACTATGTGGTCAT	0.438000													7	194					0	0	0.001984	0	0
SYNGR4	23546	broad.mit.edu	37	19	48876967	48876967	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:48876967C>T	ENST00000344846.2	+	3	537	c.287C>T	c.(286-288)aCc>aTc	p.T96I	SYNGR4_ENST00000595322.1_Missense_Mutation_p.T47I|SYNGR4_ENST00000601610.1_Missense_Mutation_p.T47I	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	96	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		ATTGCCGGCACCCGCTTCAAG	0.672000													20	73					0	0	0.001882	0	0
MUC17	140453	broad.mit.edu	37	7	100679896	100679896	+	Silent	SNP	T	T	G	rs71286280		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:100679896T>G	ENST00000306151.4	+	3	5263	c.5199T>G	c.(5197-5199)acT>acG	p.T1733T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1733	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)					CTCCTACAACTTCTGAAGGTA	0.512000													34	443					0	0	0.003271	0	0
LPAL2	80350	broad.mit.edu	37	6	160913946	160913946	+	RNA	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:160913946A>C	ENST00000335388.5	-	0	374					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TATAACACCAAGGGCCTGCCG	0.498000													4	111					0	0	0.000248	0	0
STK31	56164	broad.mit.edu	37	7	23793982	23793982	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:23793982A>T	ENST00000354639.3	+	10	1577	c.1113A>T	c.(1111-1113)atA>atT	p.I371I	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.I371I|STK31_ENST00000355870.3_Silent_p.I394I|STK31_ENST00000433467.2_Silent_p.I394I	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	394							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						CAGATGCTATACAAGTGTTGG	0.368000													23	80					0	0	0.003954	0	0
TMEM52B	120939	broad.mit.edu	37	12	10337952	10337952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:10337952A>G	ENST00000298530.3	+	2	640	c.62A>G	c.(61-63)cAt>cGt	p.H21R	TMEM52B_ENST00000381923.2_Missense_Mutation_p.H41R|TMEM52B_ENST00000536952.1_Missense_Mutation_p.H41R	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GACTGGGTACATCTCTGGTAT	0.353000													12	72					0	0	0.001855	0	0
ROCK1	6093	broad.mit.edu	37	18	18622600	18622600	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:18622600T>C	ENST00000399799.1	-	7	1686	c.746A>G	c.(745-747)cAa>cGa	p.Q249R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	249	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACCACCTTGGGATTTTAA	0.408000													3	44					0	0	0.000248	0	0
VCAN	1462	broad.mit.edu	37	5	82817085	82817085	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:82817085T>C	ENST00000265077.3	+	7	3525	c.2960T>C	c.(2959-2961)gTa>gCa	p.V987A	VCAN_ENST00000512590.2_Missense_Mutation_p.V939A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V987A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	987	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAGTGTTAGTACCTTCTGTT	0.423000													11	38					0	0	0.000978	0	0
CNTN4	152330	broad.mit.edu	37	3	3084014	3084014	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:3084014A>G	ENST00000397461.1	+	20	2803	c.2419A>G	c.(2419-2421)Agt>Ggt	p.S807G	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.S807G|CNTN4_ENST00000358480.3_Missense_Mutation_p.S588G|CNTN4_ENST00000397459.2_Missense_Mutation_p.S479G|CNTN4_ENST00000418658.1_Missense_Mutation_p.S807G|CNTN4_ENST00000448906.2_Missense_Mutation_p.S479G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	807	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACCACCAGCCAGTATCTTTGC	0.408000													6	35					0	0	0.006214	0	0
CYP3A5	1577	broad.mit.edu	37	7	99274120	99274120	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:99274120G>T	ENST00000343703.5	-	0	247				CYP3A5_ENST00000480723.1_Intron|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Intron|CYP3A5_ENST00000222982.4_Intron					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GAGAGGTTCAGGCAGGAATTC	0.418000													31	68					5.60225e-13	1.26862e-12	0.001786	1	0
CSMD3	114788	broad.mit.edu	37	8	113249558	113249558	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:113249558G>T	ENST00000297405.5	-	67	10732	c.10488C>A	c.(10486-10488)gcC>gcA	p.A3496A	CSMD3_ENST00000352409.3_Silent_p.A3426A|CSMD3_ENST00000343508.3_Silent_p.A3456A|CSMD3_ENST00000455883.2_Silent_p.A3327A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3496						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATAATTTTGGGCAAATACAT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	34					4.11147e-13	9.38126e-13	0.003755	1	0
AGMO	392636	broad.mit.edu	37	7	15458203	15458203	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:15458203G>C	ENST00000342526.3	-	5	758	c.589C>G	c.(589-591)Caa>Gaa	p.Q197E		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	197					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATCCAAAATTGGTAAAGAAGA	0.338000													7	44					0	0	0.001984	0	0
COL22A1	169044	broad.mit.edu	37	8	139815175	139815175	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:139815175T>C	ENST00000303045.6	-	11	1943	c.1497A>G	c.(1495-1497)ggA>ggG	p.G499G	COL22A1_ENST00000435777.1_Silent_p.G499G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	499	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCTATGTCTCCCTGAGGGG	0.562000										HNSCC(7;0.00092)			3	111					0	0	0.000248	0	0
POMK	84197	broad.mit.edu	37	8	42977597	42977597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:42977597G>T	ENST00000331373.5	+	5	885	c.630G>T	c.(628-630)aaG>aaT	p.K210N		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		210	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										ACCTGCCGAAGACACTGTCCC	0.542000													10	47					1.76689e-08	3.53772e-08	0.006214	1	0
DDX54	79039	broad.mit.edu	37	12	113614678	113614678	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:113614678C>A	ENST00000314045.7	-	7	746	c.719G>T	c.(718-720)aGt>aTt	p.S240I	DDX54_ENST00000306014.5_Missense_Mutation_p.S240I	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	240	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTATTCCACACTCTGCAGCTT	0.577000													16	94					9.7654e-05	0.000168182	0.007413	1	0
DDX54	79039	broad.mit.edu	37	12	113614682	113614682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:113614682G>A	ENST00000314045.7	-	7	742	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	DDX54_ENST00000306014.5_Nonsense_Mutation_p.Q239*	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	239	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCACACTCTGCAGCTTCAGG	0.587000													17	94					0	0	0.006122	0	0
COL13A1	1305	broad.mit.edu	37	10	71686841	71686841	+	Splice_Site	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:71686841A>T	ENST00000356340.3	+	25	1901		c.e25-1		COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398978.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398968.3_Splice_Site			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTGGTTTTTTAGGAGATCCGG	0.542000													44	301					0	0	0.003610	0	0
NCOA5	57727	broad.mit.edu	37	20	44697169	44697169	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:44697169T>A	ENST00000290231.6	-	4	638	c.474A>T	c.(472-474)ccA>ccT	p.P158P		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	158	Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTTCTGGGCCTGGAGGGCCCC	0.423000													15	74					0	0	0.003163	0	0
VWA8	23078	broad.mit.edu	37	13	42179326	42179326	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:42179326C>A	ENST00000379310.3	-	40	5032	c.4964G>T	c.(4963-4965)cGa>cTa	p.R1655L		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CAGGATGATTCGGAGGGAGTG	0.428000													13	76					9.31168e-06	1.69457e-05	0.001855	1	0
SUCLA2	8803	broad.mit.edu	37	13	48528531	48528531	+	Splice_Site	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:48528531C>G	ENST00000378654.3	-	7	1020	c.964_splice	c.e7+1	p.V322_splice	SUCLA2_ENST00000544100.1_Splice_Site_p.V188_splice|SUCLA2_ENST00000534875.1_Splice_Site_p.V264_splice|SUCLA2_ENST00000543413.1_Splice_Site_p.V264_splice	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	322					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CACATGGTACCTAGGCAGCCT	0.358000													14	64					0	0	0.001855	0	0
RAP2A	5911	broad.mit.edu	37	13	98116573	98116573	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:98116573G>T	ENST00000245304.4	+	2	678	c.429G>T	c.(427-429)atG>atT	p.M143I		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	143					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	p.M143I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GCCCCTTTATGGAAACTTCCG	0.493000													15	84					2.32078e-09	4.8408e-09	0.003163	1	0
SLC9A2	6549	broad.mit.edu	37	2	103300704	103300704	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:103300704T>C	ENST00000233969.2	+	5	1476	c.1334T>C	c.(1333-1335)tTa>tCa	p.L445S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	445						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTTTTGCGTTAGTGTTTCTC	0.438000													22	140					0	0	0.002780	0	0
MRC2	9902	broad.mit.edu	37	17	60754766	60754766	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:60754766G>T	ENST00000303375.5	+	12	2373	c.1971G>T	c.(1969-1971)ccG>ccT	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCTGCCGGGGCCAGATC	0.667000													5	20					3.59834e-05	6.30586e-05	0.001168	1	0
OR2T33	391195	broad.mit.edu	37	1	248436913	248436913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248436913G>T	ENST00000318021.2	-	1	225	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCAGCATCATGTCCATGAGGG	0.557000													19	142					7.87624e-14	1.81093e-13	0.002780	1	0
CA10	56934	broad.mit.edu	37	17	50235099	50235099	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:50235099G>T	ENST00000451037.2	-	1	988	c.48C>A	c.(46-48)atC>atA	p.I16I	CA10_ENST00000285273.4_Silent_p.I16I|CA10_ENST00000340813.6_5'UTR|CA10_ENST00000570565.1_Intron|CA10_ENST00000442502.2_Silent_p.I16I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	16					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATATGCAGACGATGAAATTGG	0.498000													20	73					5.26018e-13	1.19417e-12	0.001882	1	0
MUC5B	727897	broad.mit.edu	37	11	1261536	1261536	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:1261536G>A	ENST00000447027.1	+	30	3968	c.3910G>A	c.(3910-3912)Gca>Aca	p.A1304T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1301T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1301					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAAGGCTGTGGCATGTCCTGG	0.607000													6	54					0	0	0.001168	0	0
KDELC1	79070	broad.mit.edu	37	13	103443408	103443408	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:103443408C>A	ENST00000376004.4	-	6	1262	c.926G>T	c.(925-927)gGg>gTg	p.G309V	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	309						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTGTCTCGCCCTCTCCAGAC	0.478000													12	65					0.000978159	0.00160176	0.000978	1	0
MROH2B	133558	broad.mit.edu	37	5	41004915	41004915	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:41004915G>C	ENST00000399564.4	-	36	4422	c.3972C>G	c.(3970-3972)atC>atG	p.I1324M	MROH2B_ENST00000506092.2_Missense_Mutation_p.I879M	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.I1324M(1)									CGAGCCCTCGGATGGCCATCT	0.473000													3	96					0	0	0.004672	0	0
MIR498	574460	broad.mit.edu	37	19	54177564	54177564	+	RNA	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:54177564C>T	ENST00000385134.1	+	0	114					NR_030182.1																						GAGCAATCGTCTAAGGAAGTT	0.408000													6	64					0	0	0.003080	0	0
BICC1	80114	broad.mit.edu	37	10	60573725	60573725	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:60573725A>C	ENST00000373886.3	+	18	2516	c.2512A>C	c.(2512-2514)Aag>Cag	p.K838Q	BICC1_ENST00000263103.1_Missense_Mutation_p.K464Q	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	838					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGCAGCCCTAAGCGTAAACA	0.428000													9	70					0	0	0.008291	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170215	107170215	+	RNA	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:107170215G>T	ENST00000390633.2	-	0	127																											GACTGCACCAGCTGCACCTGG	0.557000													9	72					0.00621372	0.00980023	0.006214	1	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	A	rs148031312		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:5079889C>A	ENST00000321522.2	-	1	968	c.969G>T	c.(967-969)acG>acT	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000													8	34					0.000274275	0.000456617	0.004482	1	0
ARHGAP18	93663	broad.mit.edu	37	6	129905144	129905144	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:129905144G>A	ENST00000368149.2	-	13	1915	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTTCTTGGCTGAGAAACCTGG	0.453000													8	31					0	0	0.006214	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061593	12061593	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr16:12061593T>A	ENST00000053243.1	+	3	662	c.444T>A	c.(442-444)gcT>gcA	p.A148A	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.A99A	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	148					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CACTCCCAGCTATGGAGGAAG	0.498000			T	IL2	intestinal T-cell lymphoma								7	59					0	0	0.003080	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973956	143973956	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:143973956G>T	ENST00000409869.1	+	5	415	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V80F			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	80	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTTGCAGATGGTTGAAAAAGA	0.323000													8	54					0.000274275	0.000456617	0.004482	1	0
PSMC6	5706	broad.mit.edu	37	14	53175037	53175037	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:53175037A>T	ENST00000445930.2	+	2	144	c.138A>T	c.(136-138)caA>caT	p.Q46H	PSMC6_ENST00000606149.1_Missense_Mutation_p.Q32H			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TAAGGGAACAATTAAAAGAAC	0.378000													4	29					0	0	0.000248	0	0
MED12L	116931	broad.mit.edu	37	3	150877677	150877677	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:150877677C>G	ENST00000474524.1	+	7	934	c.896C>G	c.(895-897)gCc>gGc	p.A299G	MED12L_ENST00000422248.2_Missense_Mutation_p.A299G|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.A299G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	299					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTTTTGTGCCCGGCGTCTT	0.532000													33	157					0	0	0.002836	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531579	140531579	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:140531579G>A	ENST00000231136.1	+	1	1741	c.1741G>A	c.(1741-1743)Ggc>Agc	p.G581S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G445S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		581	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCGAGCCGGGCTACCTGGT	0.697000													15	56					0	0	0.003954	0	0
ZFP64	55734	broad.mit.edu	37	20	50776818	50776818	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:50776818A>C	ENST00000216923.4	-	5	956	c.607T>G	c.(607-609)Tac>Gac	p.Y203D	ZFP64_ENST00000371518.2_Missense_Mutation_p.Y203D|ZFP64_ENST00000361387.2_Missense_Mutation_p.Y203D|ZFP64_ENST00000346617.4_Missense_Mutation_p.Y149D|ZFP64_ENST00000371515.4_Missense_Mutation_p.Y201D|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTACACTTGTAGGGCTTCACG	0.552000													5	160					0	0	0.000602	0	0
VNN1	8876	broad.mit.edu	37	6	133004457	133004457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:133004457G>T	ENST00000367928.4	-	7	1377	c.1364C>A	c.(1363-1365)tCa>tAa	p.S455*		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	455					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCCGTCAGTTGACACCTGATT	0.378000													8	23					1.12685e-05	2.03014e-05	0.004482	1	0
SNRPF	6636	broad.mit.edu	37	12	96259135	96259135	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:96259135T>C	ENST00000266735.5	+	3	309	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_003095.2	NP_003086.1	P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	55					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|lung(1)	2						AGATGGAGCTTTGTCTGGACA	0.308000													7	79					0	0	0.003080	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777894	31777894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:31777894C>A	ENST00000375654.4	-	2	2045	c.1856G>T	c.(1855-1857)gGg>gTg	p.G619V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G619V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	619					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						GCAGGCAGGCCCAGTGCATCC	0.458000													24	69					6.32553e-13	1.42881e-12	0.004656	1	0
BRINP1	1620	broad.mit.edu	37	9	121929393	121929393	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:121929393T>C	ENST00000265922.3	-	8	2716	c.2255A>G	c.(2254-2256)cAg>cGg	p.Q752R	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		752					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						CTGGTCCGACTGTTTGAGGAT	0.488000													14	194					0	0	0.004990	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101714	135101714	+	Silent	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr10:135101714C>G	ENST00000368563.2	-	11	1997	c.1641G>C	c.(1639-1641)acG>acC	p.T547T	TUBGCP2_ENST00000543663.1_Silent_p.T575T|TUBGCP2_ENST00000368562.1_Silent_p.T140T|TUBGCP2_ENST00000252936.3_Silent_p.T547T|TUBGCP2_ENST00000417178.2_Silent_p.T417T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	547					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGCGAGGGGGCGTGATGTCCT	0.657000													4	53					0	0	0.000248	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900415	151900415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:151900415G>T	ENST00000393900.3	-	3	739	c.386C>A	c.(385-387)cCa>cAa	p.P129Q	MAGEA12_ENST00000357916.4_Missense_Mutation_p.P129Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P129Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	129	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGTGAATGGCTCCCTGGC	0.493000													16	71					4.75885e-15	1.11122e-14	0.004990	1	0
WRB	7485	broad.mit.edu	37	21	40768830	40768830	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr21:40768830A>C	ENST00000333781.5	+	5	631	c.490A>C	c.(490-492)Aaa>Caa	p.K164Q	WRB_ENST00000466787.1_3'UTR|WRB_ENST00000380708.1_Missense_Mutation_p.K130Q|WRB_ENST00000541890.1_Intron|WRB_ENST00000398753.1_Missense_Mutation_p.K130Q	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	164						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				AGTCTGTAACAAAGTTGTCGC	0.458000													27	71					0	0	0.008361	0	0
GRIA4	2893	broad.mit.edu	37	11	105804662	105804662	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:105804662A>G	ENST00000393127.2	+	14	2707	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	GRIA4_ENST00000282499.5_Missense_Mutation_p.Y754C|GRIA4_ENST00000525187.1_Missense_Mutation_p.Y754C|GRIA4_ENST00000530497.1_Missense_Mutation_p.Y754C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	754					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCAAAGGCTATGGAGTAGCA	0.433000													8	47					0	0	0.003080	0	0
BCL2	596	broad.mit.edu	37	18	60985555	60985555	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:60985555C>T	ENST00000398117.1	-	1	1806	c.345G>A	c.(343-345)atG>atA	p.M115I	BCL2_ENST00000444484.1_Missense_Mutation_p.M115I|BCL2_ENST00000589955.1_Missense_Mutation_p.M115I|BCL2_ENST00000333681.4_Missense_Mutation_p.M115I	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	115					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GCTGGCTGGACATCTCGGCGA	0.706000			T	IGH@	"""NHL, CLL"""								9	62					0	0	0.008291	0	0
HSPA12B	116835	broad.mit.edu	37	20	3722989	3722989	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:3722989T>A	ENST00000254963.2	+	4	345	c.200T>A	c.(199-201)tTc>tAc	p.F67Y	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	67							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCCATTGACTTCGGCACCACG	0.587000													29	43					0	0	0.008361	0	0
HERC2	8924	broad.mit.edu	37	15	28427567	28427567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:28427567C>A	ENST00000261609.7	-	57	9025	c.8917G>T	c.(8917-8919)Ggc>Tgc	p.G2973C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2973					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCAGCCCGCCCAGCTGGTCC	0.547000													21	71					1.64113e-05	2.92154e-05	0.001523	1	0
EP400	57634	broad.mit.edu	37	12	132472367	132472367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:132472367G>T	ENST00000333577.4	+	8	2558	c.2449G>T	c.(2449-2451)Gag>Tag	p.E817*	EP400_ENST00000330386.6_Nonsense_Mutation_p.E781*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E744*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E781*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E780*			Q96L91	EP400_HUMAN	E1A binding protein p400	817	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTATCTGCTGGAGGAGATGCA	0.617000													9	30					5.4927e-09	1.12226e-08	0.004482	1	0
KEL	3792	broad.mit.edu	37	7	142650930	142650930	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:142650930C>T	ENST00000355265.2	-	9	1512	c.1038G>A	c.(1036-1038)atG>atA	p.M346I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	346					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGTTGTGACATGTTTTTCA	0.532000													20	278					0	0	0.001523	0	0
IGF2R	3482	broad.mit.edu	37	6	160484449	160484449	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:160484449G>T	ENST00000356956.1	+	27	3821	c.3673G>T	c.(3673-3675)Gac>Tac	p.D1225Y		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1225					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTTGAAGGGGACAACTGTGA	0.507000													12	76					5.50884e-06	1.00659e-05	0.001368	1	0
TEX15	56154	broad.mit.edu	37	8	30701510	30701510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:30701510C>T	ENST00000256246.2	-	1	5098	c.5024G>A	c.(5023-5025)tGg>tAg	p.W1675*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1675										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAATTATTCCACAGGTTTTG	0.333000													7	88					0	0	0.001984	0	0
PDE8B	8622	broad.mit.edu	37	5	76607860	76607860	+	Silent	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:76607860G>C	ENST00000264917.5	+	2	426	c.381G>C	c.(379-381)ctG>ctC	p.L127L	PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Silent_p.L127L|PDE8B_ENST00000333194.4_Silent_p.L127L|PDE8B_ENST00000346042.3_Silent_p.L127L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	127					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCATGAGACTGACGCAGGACC	0.438000													7	118					0	0	0.001984	0	0
TLR9	54106	broad.mit.edu	37	3	52257839	52257839	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:52257839C>T	ENST00000597542.1	-	9	1522	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	TLR9_ENST00000360658.2_Missense_Mutation_p.G165S|TLR9_ENST00000494383.1_Missense_Mutation_p.R318Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	165					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCATGCAGGCCGGCGAGGCTG	0.587000													17	146					0	0	0.007413	0	0
HTT	3064	broad.mit.edu	37	4	3221999	3221999	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:3221999G>A	ENST00000355072.5	+	53	7478	c.7333G>A	c.(7333-7335)Gtc>Atc	p.V2445I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2445					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAAAGGAAGTCTTTAAGGA	0.527000													22	76					0	0	0.001882	0	0
OR13C3	138803	broad.mit.edu	37	9	107298308	107298308	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:107298308C>G	ENST00000374781.2	-	1	829	c.787G>C	c.(787-789)Gga>Cga	p.G263R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTGCGTCTTCCTGTGGCTGAA	0.428000													27	89					0	0	0.003271	0	0
DAB2	1601	broad.mit.edu	37	5	39383078	39383078	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:39383078G>C	ENST00000545653.1	-	9	1450	c.920C>G	c.(919-921)tCt>tGt	p.S307C	DAB2_ENST00000320816.6_Missense_Mutation_p.S328C|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S307C	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	328					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CAGCGGAGTAGACGAGCTACT	0.478000													7	143					0	0	0.003080	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791461	14791461	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:14791461A>T	ENST00000358984.4	+	16	1976	c.1796A>T	c.(1795-1797)gAa>gTa	p.E599V	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E599V|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	599										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CATCAAAAAGAATTCGATACC	0.299000													5	46					0	0	0.001984	0	0
RNF220	55182	broad.mit.edu	37	1	44878266	44878266	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:44878266G>T	ENST00000355387.2	+	2	947	c.497G>T	c.(496-498)gGg>gTg	p.G166V	RNF220_ENST00000372247.2_Missense_Mutation_p.G166V|RNF220_ENST00000361799.2_Missense_Mutation_p.G166V			Q5VTB9	RN220_HUMAN	ring finger protein 220	166					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TATGACTTTGGGACACAGCTG	0.517000													13	63					9.31168e-06	1.69457e-05	0.001855	1	0
TRPV5	56302	broad.mit.edu	37	7	142625300	142625300	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:142625300C>A	ENST00000265310.1	-	7	1140	c.792G>T	c.(790-792)agG>agT	p.R264S	TRPV5_ENST00000442623.1_Missense_Mutation_p.R264S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	264					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACTGGATGTGCCTCCGCTTCT	0.567000													18	103					1.37657e-19	3.33567e-19	0.001882	1	0
MUC16	94025	broad.mit.edu	37	19	9059515	9059515	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:9059515T>C	ENST00000397910.4	-	3	28134	c.27931A>G	c.(27931-27933)Agt>Ggt	p.S9311G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9313	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGGCACACTAGAAAGGACA	0.498000													41	126					0	0	0.002222	0	0
OR4N4	283694	broad.mit.edu	37	15	22382496	22382496	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:22382496A>T	ENST00000328795.4	+	1	115	c.24A>T	c.(22-24)gtA>gtT	p.V8V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAACACAGTAGTGACAGAAT	0.353000													10	99					0	0	0.001368	0	0
CHI3L2	1117	broad.mit.edu	37	1	111772476	111772476	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:111772476G>A	ENST00000445067.2	+	4	814	c.43G>A	c.(43-45)Gta>Ata	p.V15I	CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369744.2_Intron|CHI3L2_ENST00000369748.4_Missense_Mutation_p.V15I|CHI3L2_ENST00000524472.1_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2	15					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TATTGCAGGTGTAGTGGTCTT	0.463000													5	60					0	0	0.003080	0	0
ACAP1	9744	broad.mit.edu	37	17	7249762	7249762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:7249762G>T	ENST00000158762.3	+	12	1165	c.959G>T	c.(958-960)tGc>tTc	p.C320F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	320	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GTGAAACTCTGCCCTGACTCA	0.522000											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	72					5.50884e-06	1.00659e-05	0.001368	1	0
TMEM135	65084	broad.mit.edu	37	11	87032340	87032340	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:87032340A>T	ENST00000340353.7	+	14	1478	c.1276A>T	c.(1276-1278)Act>Tct	p.T426S	TMEM135_ENST00000535167.1_Missense_Mutation_p.T309S|TMEM135_ENST00000305494.5_Missense_Mutation_p.T448S|TMEM135_ENST00000532959.1_Missense_Mutation_p.T319S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	448						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGATACACAACTGTAACACC	0.383000													9	71					0	0	0.008291	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894553	78894553	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:78894553G>T	ENST00000326828.5	-	5	815	c.431C>A	c.(430-432)aCt>aAt	p.T144N	CHRNA3_ENST00000348639.3_Missense_Mutation_p.T144N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	144					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						CACCTCCCCAGTGTACTTGAG	0.483000													9	56					0.000274275	0.000456617	0.004482	1	0
CTDP1	9150	broad.mit.edu	37	18	77456032	77456032	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:77456032A>G	ENST00000299543.7	+	3	601	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	CTDP1_ENST00000075430.7_Missense_Mutation_p.M152V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	152					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GACCGTGTCCATGGTGCACAG	0.632000													4	32					0	0	0.000248	0	0
YTHDC2	64848	broad.mit.edu	37	5	112849745	112849745	+	Silent	SNP	C	C	T	rs150619659		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:112849745C>T	ENST00000161863.4	+	1	366	c.153C>T	c.(151-153)atC>atT	p.I51I	YTHDC2_ENST00000515883.1_Silent_p.I51I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	51	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAGTCAATATCGCGCTGGAGC	0.667000													14	18					0	0	0.004007	0	0
LONRF1	91694	broad.mit.edu	37	8	12600764	12600764	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:12600764T>C	ENST00000398246.3	-	2	818	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	250					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTCCGCTCTGTAAATTTTTAC	0.294000													10	37					0	0	0.000978	0	0
TNR	7143	broad.mit.edu	37	1	175375656	175375656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:175375656G>T	ENST00000367674.1	-	3	903	c.195C>A	c.(193-195)ttC>ttA	p.F65L	TNR_ENST00000263525.2_Missense_Mutation_p.F65L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	65					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)					ACACGTGGTTGAAGACCACAG	0.557000													23	106					3.8784e-16	9.12745e-16	0.001882	1	0
DMXL2	23312	broad.mit.edu	37	15	51780177	51780177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:51780177C>A	ENST00000251076.5	-	22	5478	c.5191G>T	c.(5191-5193)Gct>Tct	p.A1731S	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.A1731S|DMXL2_ENST00000449909.3_Missense_Mutation_p.A1095S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1731						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATGAACCAGCTAGCAAGAAA	0.338000													20	145					4.35082e-09	8.9301e-09	0.001523	1	0
ZNF677	342926	broad.mit.edu	37	19	53747081	53747081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:53747081G>A	ENST00000333952.4	-	4	250	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	ZNF677_ENST00000599012.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000598806.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000601828.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000601413.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000594681.1_Nonsense_Mutation_p.Q29*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAGGCCCTCTGGGCAGGGTCC	0.493000													28	81					0	0	0.006320	0	0
MCCC2	64087	broad.mit.edu	37	5	70922501	70922501	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:70922501G>C	ENST00000340941.6	+	7	788	c.659G>C	c.(658-660)gGa>gCa	p.G220A	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Missense_Mutation_p.G220A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	220	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ACCGCAGGAGGAGCCTATGTG	0.502000													7	29					0	0	0.003080	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715881	170715881	+	Silent	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:170715881T>C	ENST00000314251.3	-	11	1465	c.1386A>G	c.(1384-1386)ggA>ggG	p.G462G	SLC2A2_ENST00000382808.4_Silent_p.G343G	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	462					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ACACATAAGGTCCACAGAAGT	0.403000													4	21					0	0	0.000248	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567501	45567501	+	RNA	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:45567501T>C	ENST00000256692.5	-	0	1184					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAATGCTTCTGTGGGAATGC	0.423000													23	157					0	0	0.003954	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572407	38572407	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:38572407A>G	ENST00000222345.6	+	3	711	c.202A>G	c.(202-204)Agc>Ggc	p.S68G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	68					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			caccCGCCCCAGCCCCACCAC	0.716000													3	5					0	0	0.000602	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070610	114070610	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:114070610G>C	ENST00000462705.1	-	11	917	c.96C>G	c.(94-96)gaC>gaG	p.D32E	ZBTB20_ENST00000357258.3_Missense_Mutation_p.D32E|ZBTB20_ENST00000471418.1_Missense_Mutation_p.D32E|ZBTB20_ENST00000393785.2_Missense_Mutation_p.D32E|ZBTB20_ENST00000464560.1_Missense_Mutation_p.D32E|ZBTB20_ENST00000474710.1_Missense_Mutation_p.D105E|ZBTB20_ENST00000481632.1_Missense_Mutation_p.D32E	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCACCGTTACGTCACAGAAGT	0.612000													7	34					0	0	0.004482	0	0
EP300	2033	broad.mit.edu	37	22	41568563	41568563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:41568563G>T	ENST00000263253.7	+	28	5732	c.4513G>T	c.(4513-4515)Gag>Tag	p.E1505*	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1505					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCTTATTTCGAGGGTGATTT	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	37					5.9392e-07	1.14578e-06	0.001168	1	0
KRT74	121391	broad.mit.edu	37	12	52967151	52967151	+	Silent	SNP	G	G	T	rs149972815	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:52967151G>T	ENST00000549343.1	-	1	449	c.411C>A	c.(409-411)cgC>cgA	p.R137R	KRT74_ENST00000305620.2_Silent_p.R137R			Q7RTS7	K2C74_HUMAN	keratin 74	137	Head.					keratin filament	structural molecule activity	p.R137R(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTCCTGGGCGCGCACCTTCT	0.607000													22	101					1.10513e-12	2.4653e-12	0.002299	1	0
SNX25	83891	broad.mit.edu	37	4	186185599	186185599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:186185599G>T	ENST00000504273.1	+	4	541	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	SNX25_ENST00000264694.8_Nonsense_Mutation_p.E83*			Q9H3E2	SNX25_HUMAN	sorting nexin 25	83	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAGACATGAAGAACAGCCAAG	0.348000													27	81					3.99451e-17	9.42536e-17	0.001786	1	0
CCDC110	256309	broad.mit.edu	37	4	186379887	186379887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:186379887C>A	ENST00000307588.3	-	6	1929	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	CCDC110_ENST00000393540.3_Missense_Mutation_p.E581D|CCDC110_ENST00000510617.1_Missense_Mutation_p.E618D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	618						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATCTTTCTTTCTCTTTTAGCT	0.318000													21	58					1.10923e-09	2.32447e-09	0.002780	1	0
BACH2	60468	broad.mit.edu	37	6	90661400	90661400	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:90661400A>T	ENST00000257749.4	-	7	1132	c.425T>A	c.(424-426)gTg>gAg	p.V142E	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.V142E|BACH2_ENST00000537989.1_Missense_Mutation_p.V142E	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	142						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTCCGGCACACAAACAGGCC	0.592000													14	44					0	0	0.001855	0	0
OR13C3	138803	broad.mit.edu	37	9	107298307	107298307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:107298307C>A	ENST00000374781.2	-	1	830	c.788G>T	c.(787-789)gGa>gTa	p.G263V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGCGTCTTCCTGTGGCTGA	0.428000													26	88					1.36615e-20	3.32836e-20	0.002836	1	0
RSBN1	54665	broad.mit.edu	37	1	114340623	114340623	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:114340623C>A	ENST00000261441.5	-	2	802	c.739G>T	c.(739-741)Gat>Tat	p.D247Y		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	247						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAATCATCGGCTCTCTGG	0.363000													12	104					1.5842e-08	3.20044e-08	0.001855	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651075	84651075	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:84651075C>T	ENST00000286744.5	+	21	2919	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L899F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	899	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGCAGATCCTCAGTGTCCA	0.403000													8	68					0	0	0.006214	0	0
OR2H1	26716	broad.mit.edu	37	6	29429911	29429911	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:29429911T>C	ENST00000377136.1	+	4	830	c.365T>C	c.(364-366)gTg>gCg	p.V122A	OR2H1_ENST00000396792.2_Missense_Mutation_p.V122A|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.V122A|OR2H1_ENST00000377132.1_Missense_Mutation_p.V122A|OR2H1_ENST00000442615.1_Missense_Mutation_p.V122A			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GACCGATACGTGGCTGTCTGC	0.577000													12	127					0	0	0.001855	0	0
STK16	8576	broad.mit.edu	37	2	220112227	220112227	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:220112227G>T	ENST00000409638.3	+	5	703	c.531G>T	c.(529-531)gtG>gtT	p.V177V	STK16_ENST00000409516.3_Silent_p.V59V|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409260.1_Silent_p.V222V|STK16_ENST00000409743.1_Silent_p.V177V|STK16_ENST00000396738.2_Silent_p.V177V	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	177	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCCATGTGGAGGGCTCCC	0.517000													12	146					2.80697e-09	5.81445e-09	0.000978	1	0
CST1	1469	broad.mit.edu	37	20	23731380	23731380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:23731380C>A	ENST00000304749.2	-	1	194	c.124G>T	c.(124-126)Gag>Tag	p.E42*	CST1_ENST00000398402.1_Nonsense_Mutation_p.E42*	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	42						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGTACCCACTCATCATTGAGG	0.577000													18	50					1.96292e-10	4.22169e-10	0.001523	1	0
PTPRD	5789	broad.mit.edu	37	9	8331720	8331720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:8331720G>C	ENST00000381196.4	-	41	5939	c.5396C>G	c.(5395-5397)aCa>aGa	p.T1799R	PTPRD_ENST00000397611.3_Missense_Mutation_p.T1389R|PTPRD_ENST00000397606.3_Missense_Mutation_p.T1392R|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1786R|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1777R|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1799R|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1799R|PTPRD_ENST00000355233.5_Missense_Mutation_p.T1393R|PTPRD_ENST00000537002.1_Missense_Mutation_p.T1389R|PTPRD_ENST00000486161.1_Missense_Mutation_p.T1392R|PTPRD_ENST00000397617.3_Missense_Mutation_p.T1392R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1799	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGCCTTACTGTTCGGGACTG	0.498000										TSP Lung(15;0.13)			5	74					0	0	0.000602	0	0
WNK3	65267	broad.mit.edu	37	X	54319419	54319419	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:54319419C>A	ENST00000354646.2	-	10	2377	c.1939G>T	c.(1939-1941)Ggt>Tgt	p.G647C	WNK3_ENST00000375159.2_Missense_Mutation_p.G647C|WNK3_ENST00000375169.3_Missense_Mutation_p.G647C	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	647					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGGACTGACCTTGAACCAAA	0.413000													7	22					0.000157383	0.000267462	0.003080	1	0
OR2M4	26245	broad.mit.edu	37	1	248402299	248402299	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248402299C>A	ENST00000306687.1	+	1	69	c.69C>A	c.(67-69)acC>acA	p.T23T		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGTCCCACCCACACCTTCC	0.448000													20	98					2.98393e-07	5.80639e-07	0.002780	1	0
RYR3	6263	broad.mit.edu	37	15	33954739	33954739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:33954739C>A	ENST00000389232.4	+	35	5078	c.5008C>A	c.(5008-5010)Cct>Act	p.P1670T	RYR3_ENST00000415757.3_Missense_Mutation_p.P1670T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1670	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		GTTCTCCACCCCTTGCTTTGT	0.572000													8	43					0.00307968	0.00493517	0.003080	1	0
CDH10	1008	broad.mit.edu	37	5	24491734	24491734	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:24491734G>A	ENST00000264463.4	-	11	2334	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	609					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCCAGTGCTGAGGCCGGCAG	0.517000										HNSCC(23;0.051)			12	109					0	0	0.002450	0	0
ZBBX	79740	broad.mit.edu	37	3	167068220	167068220	+	Silent	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:167068220T>G	ENST00000392766.2	-	9	856	c.516A>C	c.(514-516)acA>acC	p.T172T	ZBBX_ENST00000307529.5_Silent_p.T172T|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.T172T|ZBBX_ENST00000392767.2_Silent_p.T172T|ZBBX_ENST00000392764.1_Silent_p.T143T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	172						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCAAAAGAGTTGTTCTGTGGA	0.328000													7	203					0	0	0.003080	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746443	77746443	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:77746443A>C	ENST00000409088.3	-	3	966	c.552T>G	c.(550-552)gaT>gaG	p.D184E	LRRTM4_ENST00000409884.1_Missense_Mutation_p.D184E|LRRTM4_ENST00000409282.1_Missense_Mutation_p.D185E|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D185E|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D184E	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	184						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAAAAATCAAGATTCC	0.413000													4	88					0	0	0.000602	0	0
CDK9	1025	broad.mit.edu	37	9	130548455	130548455	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:130548455T>G	ENST00000373265.2	+	1	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.C10G			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	10	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CTCGGTGGAGTGCCCTTTTTG	0.692000													10	32					0	0	0.008291	0	0
OR2F1	26211	broad.mit.edu	37	7	143657426	143657426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:143657426C>A	ENST00000392899.1	+	1	400	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGCCTATGACCGCTATGTGG	0.542000													39	94					1.07637e-12	2.4071e-12	0.004878	1	0
CRABP2	1382	broad.mit.edu	37	1	156670737	156670737	+	Missense_Mutation	SNP	G	G	A	rs144578509	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:156670737G>A	ENST00000368222.3	-	2	332	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	CRABP2_ENST00000368221.1_Missense_Mutation_p.R60C	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	60					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	p.R60C(1)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCTGTGGTGCGCACGGTGGTG	0.547000													8	46					0	0	0.004482	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236868	55236868	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:55236868A>C	ENST00000251091.5	+	7	1684	c.1379A>C	c.(1378-1380)cAg>cCg	p.Q460P	SAMD4A_ENST00000392067.3_Missense_Mutation_p.Q548P|SAMD4A_ENST00000554335.1_Missense_Mutation_p.Q548P|SAMD4A_ENST00000357634.3_Missense_Mutation_p.Q547P|SAMD4A_ENST00000555192.1_Missense_Mutation_p.Q139P	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	548					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGGAAACAGCAGGTGCAGAAG	0.418000													14	72					0	0	0.001855	0	0
MAGEB6	158809	broad.mit.edu	37	X	26211992	26211992	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:26211992G>T	ENST00000379034.1	+	2	178	c.29G>T	c.(28-30)cGt>cTt	p.R10L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	10										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGTAAGCTCCGTACCTGTGAG	0.587000													21	29					1.55795e-14	3.60978e-14	0.001882	1	0
KCNA10	3744	broad.mit.edu	37	1	111061285	111061285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:111061285C>G	ENST00000369771.2	-	1	512	c.125G>C	c.(124-126)gGg>gCg	p.G42A		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	42						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)		GGAGCTGCCCCCAGGCCGGCC	0.552000													4	42					0	0	0.000602	0	0
GPR124	25960	broad.mit.edu	37	8	37691583	37691583	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:37691583C>T	ENST00000315215.7	+	11	1908	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	GPR124_ENST00000412232.2_Silent_p.I515I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	515					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAGCCGCATCGTGGGTGCCC	0.672000													17	49					0	0	0.004990	0	0
TLR10	81793	broad.mit.edu	37	4	38775675	38775675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:38775675C>A	ENST00000308973.4	-	4	2142	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	TLR10_ENST00000508334.1_Nonsense_Mutation_p.E513*|TLR10_ENST00000506111.1_Nonsense_Mutation_p.E513*|TLR10_ENST00000361424.2_Nonsense_Mutation_p.E513*	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	513					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTTTAACTTCCTGGCAGCTC	0.398000													14	57					4.3838e-07	8.51196e-07	0.001855	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18707001	18707001	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr9:18707001T>C	ENST00000380548.4	+	14	2170	c.1831T>C	c.(1831-1833)Tgg>Cgg	p.W611R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.W611R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	611	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTGTATGACTGGGAGTATGA	0.552000													5	41					0	0	0.001984	0	0
ILVBL	10994	broad.mit.edu	37	19	15233937	15233937	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:15233937G>T	ENST00000263383.3	-	4	594	c.455C>A	c.(454-456)aCt>aAt	p.T152N	ILVBL_ENST00000534378.1_Missense_Mutation_p.T45N|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	152						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTGCAGCAGAGTGCTGGCAGC	0.627000													11	69					1.08611e-07	2.12263e-07	0.000978	1	0
TLR8	51311	broad.mit.edu	37	X	12937314	12937314	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:12937314G>A	ENST00000218032.6	+	2	242	c.155G>A	c.(154-156)cGt>cAt	p.R52H	TLR8_ENST00000311912.5_Missense_Mutation_p.R70H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	52					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGCAGCAATCGTCGACTACAG	0.413000													29	21					0	0	0.006320	0	0
ABCB11	8647	broad.mit.edu	37	2	169825981	169825981	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:169825981T>A	ENST00000263817.6	-	16	2014	c.1890A>T	c.(1888-1890)gaA>gaT	p.E630D		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	630	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGTGCCATGTTCAAAACCAA	0.448000													5	37					0	0	0.001168	0	0
VEGFC	7424	broad.mit.edu	37	4	177648962	177648962	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:177648962C>A	ENST00000280193.2	-	3	937	c.522G>T	c.(520-522)atG>atT	p.M174I	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	174					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGCTGGTGTTCATGCACTGCA	0.522000													22	49					1.22574e-08	2.48745e-08	0.002299	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319139	21319139	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:21319139T>A	ENST00000583088.1	+	3	1380	c.485T>A	c.(484-486)gTg>gAg	p.V162E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V162E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTCTTCATGGTGGTGGCCCAG	0.622000										Prostate(3;0.18)			9	73					0	0	0.004482	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670290	32670290	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:32670290T>C	ENST00000421922.2	+	5	717	c.617T>C	c.(616-618)cTc>cCc	p.L206P	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCTCCAGCCCTCCAGGAGTAT	0.493000													3	103					0	0	0.004672	0	0
LAD1	3898	broad.mit.edu	37	1	201355871	201355871	+	Silent	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:201355871C>A	ENST00000391967.2	-	3	919	c.618G>T	c.(616-618)gtG>gtT	p.V206V	LAD1_ENST00000367313.3_Silent_p.V220V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	206	8 X SEK repeats.					basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTGAGGCCAGCACCTTCTCAG	0.468000													30	128					1.30897e-18	3.1297e-18	0.001786	1	0
TRIM9	114088	broad.mit.edu	37	14	51448785	51448785	+	Missense_Mutation	SNP	G	G	A	rs148009813		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:51448785G>A	ENST00000298355.3	-	8	2761	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	TRIM9_ENST00000338969.5_Missense_Mutation_p.S628L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	547	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GATGATGTCCGAGTGCGCCGA	0.522000													4	29					0	0	0.000248	0	0
COCH	1690	broad.mit.edu	37	14	31354733	31354733	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr14:31354733C>T	ENST00000460581.2	+	8	1077	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Silent_p.A289A|COCH_ENST00000396618.3_Silent_p.A289A|COCH_ENST00000382493.4_Silent_p.A140A|COCH_ENST00000216361.4_Silent_p.A289A			O43405	COCH_HUMAN	cochlin	289	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCATTGTGGCCAGAGAGTTTG	0.458000													10	59					0	0	0.000978	0	0
DHX34	9704	broad.mit.edu	37	19	47883131	47883131	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:47883131G>T	ENST00000328771.4	+	14	3220	c.2871G>T	c.(2869-2871)caG>caT	p.Q957H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	957						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGGACCGGCAGCTGGCGCACC	0.657000													8	28					0.000274275	0.000456617	0.004482	1	0
NUF2	83540	broad.mit.edu	37	1	163318761	163318761	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:163318761G>C	ENST00000271452.3	+	13	1430	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T	NUF2_ENST00000524800.1_Missense_Mutation_p.R337T|NUF2_ENST00000367900.3_Missense_Mutation_p.R384T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	384	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAAGAAAAAAGAGGTGCTGTC	0.333000													8	43					0	0	0.004482	0	0
OR7A10	390892	broad.mit.edu	37	19	14951951	14951951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:14951951C>A	ENST00000248058.1	-	1	738	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAGGAGACAACTGAGAGGTGA	0.463000													5	61					0.000602214	0.000993378	0.000602	1	0
MAP2	4133	broad.mit.edu	37	2	210560018	210560018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:210560018G>T	ENST00000360351.4	+	7	3630	c.3124G>T	c.(3124-3126)Gtc>Ttc	p.V1042F	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1038F|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1042					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGATTTTGCTGTCCAGGGTCA	0.443000													12	47					5.16669e-11	1.12194e-10	0.000978	1	0
CPA1	1357	broad.mit.edu	37	7	130023322	130023322	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr7:130023322T>C	ENST00000011292.3	+	5	724	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	CPA1_ENST00000484324.1_Missense_Mutation_p.F104L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	192					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGGGGTCTGGTTTGCAAAGAA	0.637000													15	35					0	0	0.004990	0	0
ITGA1	3672	broad.mit.edu	37	5	52204760	52204760	+	Silent	SNP	A	A	G			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr5:52204760A>G	ENST00000282588.6	+	13	1946	c.1488A>G	c.(1486-1488)acA>acG	p.T496T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	496					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTAACAACAACTGACATTG	0.388000													5	138					0	0	0.001168	0	0
PGS1	9489	broad.mit.edu	37	17	76399770	76399770	+	Silent	SNP	G	G	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:76399770G>A	ENST00000262764.6	+	7	1028	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.Q199Q	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	334					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTTTGACCCAGGAAGATGCAG	0.537000													28	76					0	0	0.007291	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42386248	42386248	+	Silent	SNP	C	C	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:42386248C>T	ENST00000426726.3	+	1	322	c.48C>T	c.(46-48)tcC>tcT	p.S16S	RUNDC3A_ENST00000590941.1_Silent_p.S16S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.S16S	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	16	Interaction with RAP2A (By similarity).				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCTGTCCTCCAAGAAAGCGT	0.672000													6	27					0	0	0.004482	0	0
TESPA1	9840	broad.mit.edu	37	12	55356574	55356574	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:55356574G>T	ENST00000524622.1	-	7	1355	c.694C>A	c.(694-696)Cag>Aag	p.Q232K	TESPA1_ENST00000531122.1_Missense_Mutation_p.Q232K|TESPA1_ENST00000316577.8_Missense_Mutation_p.Q370K|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q232K|TESPA1_ENST00000449076.1_Missense_Mutation_p.Q370K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	370																	GACATCCTCTGCTGTGTTTCC	0.527000													8	42					1.76689e-08	3.53772e-08	0.006214	1	0
DOCK3	1795	broad.mit.edu	37	3	51395454	51395454	+	Silent	SNP	T	T	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:51395454T>A	ENST00000266037.9	+	46	4853	c.4830T>A	c.(4828-4830)ccT>ccA	p.P1610P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1610	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAATGCGGCCTCTGCATAAGA	0.502000													19	80					0	0	0.001523	0	0
CNGA4	1262	broad.mit.edu	37	11	6265462	6265462	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:6265462G>C	ENST00000379936.2	+	6	1666	c.1551G>C	c.(1549-1551)gaG>gaC	p.E517D		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	517					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGCTGAGCTGGAGTCCA	0.602000													7	57					0	0	0.003080	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22930869	22930869	+	RNA	SNP	G	G	C			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr22:22930869G>C	ENST00000390302.2	+	0	122																											GGCCCAATCTGCCCTGACTCA	0.557000													21	174					0	0	0.002780	0	0
ANK2	287	broad.mit.edu	37	4	114120256	114120256	+	Silent	SNP	A	A	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr4:114120256A>T	ENST00000357077.4	+	4	428	c.375A>T	c.(373-375)gcA>gcT	p.A125A	ANK2_ENST00000506722.1_Silent_p.A104A|ANK2_ENST00000394537.3_Silent_p.A125A|ANK2_ENST00000264366.6_Silent_p.A125A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	125					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATATTAATGCACAGTCTCAGG	0.368000													6	32					0	0	0.001168	0	0
HTR3C	170572	broad.mit.edu	37	3	183778050	183778050	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:183778050C>A	ENST00000318351.1	+	9	1288	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	418						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGGTGCAGTTCAGCCACGCGA	0.587000													21	133					4.54149e-19	1.09166e-18	0.002299	1	0
USH2A	7399	broad.mit.edu	37	1	215813952	215813952	+	Silent	SNP	G	G	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:215813952G>T	ENST00000366943.2	-	68	15302	c.14916C>A	c.(14914-14916)cgC>cgA	p.R4972R	USH2A_ENST00000307340.3_Silent_p.R4972R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4972	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R4972R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGCTGTACACGCGTCGCCCTC	0.552000										HNSCC(13;0.011)			15	48					8.60227e-14	1.9678e-13	0.004007	1	0
ATP1A2	477	broad.mit.edu	37	1	160093063	160093063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:160093063delC	ENST00000361216.3	+	4	327	c.238delC	c.(238-240)cafs	p.P82fs	ATP1A2_ENST00000392233.3_Frame_Shift_Del_p.P82fs|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	82	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGCCCTCACACCACCTCCCAC	0.632													22	162	---	---	---	---					
OR2T4	127074	broad.mit.edu	37	1	248525120	248525120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr1:248525120delC	ENST00000366475.1	+	1	238	c.238delC	c.(238-240)tgfs	p.L80fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGATCCTTCTGATACACTG	0.468													63	279	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													2	4	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585078	175585078	+	RNA	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:175585078delC	ENST00000442996.1	+	0	217																											ATTTCATTCTCAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
ITGA4	3676	broad.mit.edu	37	2	182347144	182347144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr2:182347144delA	ENST00000397033.2	+	8	1328	c.898delA	c.(898-900)aafs	p.K301fs		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	301					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AATGAAAGGTAAAAAGGTAAT	0.333													14	82	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													3	6	---	---	---	---					
RPL10A	4736	broad.mit.edu	37	6	35438117	35438118	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:35438117_35438118insA	ENST00000322203.6	+	5	499_500	c.472_473insA	c.(472-474)aatfs	p.N158fs	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	158					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AATCAAGTTCCAAATGAAGAAG	0.485													9	49	---	---	---	---					
GLP1R	2740	broad.mit.edu	37	6	39041463	39041463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr6:39041463delG	ENST00000373256.4	+	7	784	c.741delG	c.(739-741)gafs	p.E247fs		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	247					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCTTGGTGGAGGGCGTGTACC	0.562													8	143	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22021573	22021574	+	Splice_Site	DEL	GT	GT	-	rs12229		TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr8:22021573_22021574delGT	ENST00000318561.3	+	5	786		c.e5+1		SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000521315.1_3'UTR	NM_001172357.1|NM_001172410.1|NM_003018.3	NP_001165828.1|NP_001165881.1|NP_003009.2	P11686	PSPC_HUMAN	surfactant protein C						respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CGGTGAGCAGGTGTGATCCCAG	0.708													10	27	---	---	---	---					
OR8K3	219473	broad.mit.edu	37	11	56086481	56086481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr11:56086481delA	ENST00000312711.1	+	1	699	c.699delA	c.(697-699)agfs	p.R233fs		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CTGCTGGCAGACAAAAGGCTT	0.433													8	79	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133253148	133253148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr12:133253148delT	ENST00000320574.5	-	9	936	c.893delA	c.(892-894)tcfs	p.Y298fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.Y271fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	298					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATCGATCATGTAGGAAATCAT	0.527								DNA polymerases (catalytic subunits)					8	53	---	---	---	---					
TNFRSF19	55504	broad.mit.edu	37	13	24243135	24243136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr13:24243135_24243136insT	ENST00000382263.3	+	9	1328_1329	c.1144_1145insT	c.(1144-1146)ggtfs	p.G382fs	TNFRSF19_ENST00000382258.4_Frame_Shift_Ins_p.G382fs|TNFRSF19_ENST00000248484.4_Frame_Shift_Ins_p.G382fs|TNFRSF19_ENST00000403372.2_Frame_Shift_Ins_p.G250fs	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	382					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TAACAACACACTGGTAGAATCA	0.460													8	55	---	---	---	---					
NPAP1	23742	broad.mit.edu	37	15	24921209	24921209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr15:24921209delC	ENST00000329468.2	+	1	669	c.195delC	c.(193-195)ttfs	p.F65fs		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.F65F(1)									CCAGCATCTTCGTCGCCCCTA	0.721													8	47	---	---	---	---					
SMG8	55181	broad.mit.edu	37	17	57287753	57287754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr17:57287753_57287754insA	ENST00000543872.2	+	2	605_606	c.341_342insA	c.(340-342)gtcfs	p.V114fs	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Frame_Shift_Ins_p.V114fs|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Frame_Shift_Ins_p.V114fs			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	114					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCAGCCGGGGGTTCAGTTCGGG	0.634													7	11	---	---	---	---					
SERPINB7	8710	broad.mit.edu	37	18	61465837	61465837	+	Splice_Site	DEL	G	G	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr18:61465837delG	ENST00000398019.2	+	6	779		c.e6-1		SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000540675.1_Splice_Site	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTTTCAAAAGGCAAAATCAA	0.318													11	38	---	---	---	---					
DAZAP1	26528	broad.mit.edu	37	19	1432542	1432542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr19:1432542delC	ENST00000336761.6	+	11	1106	c.901delC	c.(901-903)cafs	p.P301fs	DAZAP1_ENST00000233078.4_Frame_Shift_Del_p.P301fs	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	301	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACCTCCACCGCCAGATCAGTT	0.652													34	148	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													8	225	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37580381	37580382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chr20:37580381_37580382insT	ENST00000217429.4	+	4	1107_1108	c.1066_1067insT	c.(1066-1068)gggfs	p.G356fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	326					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GGAGCTCACCCTGGGCAACCTG	0.599													18	112	---	---	---	---					
FRMPD4	9758	broad.mit.edu	37	X	12735777	12735777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:12735777delC	ENST00000380682.1	+	16	3338	c.2832delC	c.(2830-2832)cafs	p.H944fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	944					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGGCTACCACCCCCTTGCAG	0.582													18	147	---	---	---	---					
NHSL2	340527	broad.mit.edu	37	X	71358622	71358623	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:71358622_71358623insA	ENST00000373677.1	+	2	1388_1389	c.126_127insA	c.(124-129)agatcafs	p.S43fs	NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.S409fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.S43fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.S178fs			F5H593	F5H593_HUMAN	NHS-like 2	409										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCAGCCAGAGCAATCAAGTCAA	0.485													13	9	---	---	---	---					
TMEM255A	55026	broad.mit.edu	37	X	119410798	119410799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6969-01A-11D-1945-08	TCGA-55-6969-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	146118dc-87fd-4d20-a306-8de328606298	3d952ddb-a8cf-4d05-b81d-10293dcaf009	g.chrX:119410798_119410799insT	ENST00000371369.4	-	7	842_843	c.616_617insA	c.(616-618)tgtfs	p.C206fs	TMEM255A_ENST00000309720.5_Frame_Shift_Ins_p.C230fs|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Frame_Shift_Ins_p.C66fs	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CAGGCCAACAATGTTGAGGATG	0.505													39	64	---	---	---	---					
